VERNONSUTTONVERNON SUTTON29.70508570000000-95.401808700000003508SUTTON, VERNONProfessorplugins:TwitterTwitterprns:coAuthorOfcoauthor ofprns:endDateend dateFaculty Rankprns:fullNamefull nameprns:grantAwardedBygrant awarded byprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:pluginSearchableDataProfilesRNS Plugin Searchable Dataprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:principalInvestigatorNameprincipal investigator nameprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:startDatestart dateprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:address1address line 1vivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provinceAgreementvivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipDepartmentDivisionGrantvivo:hasResearchArearesearch areasvivo:hasResearcherRoleresearch activitiesvivo:hrJobTitleHR job titleInformation Resourcevivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonAuthorship 156303625345085Chen MJ, Karaviti LP, Macias CG, Roth DR, Gunn S, Sutton VR, Schlomer BPediatric endocrinology reviews : PERState of the art review in hypospadias: challenges in diagnosis and medical management. Pediatr Endocrinol Rev. 2014 Sep; 12(1):46-54.Pediatr Endocrinol Rev2014-09-01T00:00:002014State of the art review in hypospadias: challenges in diagnosis and medical management.25464842Ross J, Busch J, Mintz E, Ng D, Stanley A, Brafman D, Sutton VR, Van den Veyver I, Willert KCell reportsA rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells. Cell Rep. 2014 Dec 11; 9(5):1770-1780.Cell Rep2014-11-20T00:00:002014A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells.25581988McCann-Crosby B, Chen MJ, Lyons SK, Lin Y, Axelrad M, Dietrich JE, Sutton VR, Macias CG, Gunn S, Karaviti LPediatric endocrinology reviews : PERNonclassical congenital adrenal hyperplasia: targets of treatment and transition. Pediatr Endocrinol Rev. 2014 Dec; 12(2):224-38.Pediatr Endocrinol Rev2014-12-01T00:00:002014Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.Authorship 851881Authorship 917539Authorship 953393Authorship 987422Authorship 9798813Authorship 10150111Authorship 1585097Authorship 2044418Authorship 228501Authorship 16021917Authorship 1604868Authorship 16122142Authorship 1622251224754836Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VRClinical geneticsA cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet. 2015 Feb; 87(2):133-40.Clin Genet2014-05-30T00:00:002014A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.25564734Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang FThe New England journal of medicineTBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50.N Engl J Med2015-01-07T00:00:002015TBX6 null variants and a common hypomorphic allele in congenital scoliosis.25574841Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JRThe Journal of clinical investigationGlobal transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.J Clin Invest2015-01-09T00:00:002015Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.25817016White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CMAmerican journal of human geneticsDVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22.Am J Hum Genet2015-03-26T00:00:002015DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.Authorship 402085Authorship 409464Authorship 800143Authorship 827293Authorship 878678Authorship 9265518Authorship 97282Authorship 97356426426884Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SCGenetics in medicine : official journal of the American College of Medical GeneticsCesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2016 06; 18(6):570-6.Genet Med2015-10-01T00:00:002015Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.26602010Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BHThe Journal of pediatricsElevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2.J Pediatr2015-11-18T00:00:002015Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.9637430Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LGAmerican journal of medical geneticsDelineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet. 1998 Jun 16; 78(1):82-9.Am J Med Genet1998-06-16T00:00:001998Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.Authorship 29682711Authorship 29700810Authorship 3000938Authorship 30190130Authorship 3039312Authorship 3041299Authorship 3052272Authorship 3059962825875217Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SHJournal of inherited metabolic diseaseUntargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov; 38(6):1029-39.J Inherit Metab Dis2015-04-15T00:00:002015Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.25956449Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SHMolecular genetics and metabolismAromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):91-4.Mol Genet Metab2015-05-02T00:00:002015Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.26042911McCann-Crosby B, Sutton VRClinics in perinatologyDisorders of sexual development. Clin Perinatol. 2015 Jun; 42(2):395-412, ix-x.Clin Perinatol2015-03-29T00:00:002015Disorders of sexual development.26042915Gambello MJ, Sutton VRClinics in perinatologyGenetics in the twenty-first century. Preface. Clin Perinatol. 2015 Jun; 42(2):xxi-xxii.Clin Perinatol2015-06-01T00:00:002015Genetics in the twenty-first century. Preface.26069231Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Genter F, Shaywitz AJ, Harmatz PAmerican journal of medical genetics. Part ASafety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. Am J Med Genet A. 2015 Oct; 167A(10):2272-81.Am J Med Genet A2015-06-10T00:00:002015Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.26166479Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, L?pez-Gir?ldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Centers for Mendelian Genomics, Bamshad MJAmerican journal of human geneticsThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215.Am J Hum Genet2015-07-09T00:00:002015The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.26182482Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LPPediatric endocrinology reviews : PERAndrogen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. Pediatr Endocrinol Rev. 2015 Jun; 12(4):373-87.Pediatr Endocrinol Rev2015-06-01T00:00:002015Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.26385305Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJMolecular genetics and metabolismRecurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45.Mol Genet Metab2015-09-02T00:00:002015Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.26739615White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VRGenome medicinePOGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.Genome Med2016-01-06T00:00:002016POGZ truncating alleles cause syndromic intellectual disability.9326330Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LGAmerican journal of human geneticsChromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997 Sep; 61(3):642-50.Am J Hum Genet1997-09-01T00:00:001997Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.12559843Reid Sutton V, Pan Y, Davis EC, Craigen WJMolecular genetics and metabolismA mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan; 78(1):11-6.Mol Genet Metab2003-01-01T00:00:002003A mouse model of argininosuccinic aciduria: biochemical characterization.12815599Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RLHuman mutationEpigenetic detection of human chromosome 14 uniparental disomy. Hum Mutat. 2003 Jul; 22(1):92-7.Hum Mutat2003-07-01T00:00:002003Epigenetic detection of human chromosome 14 uniparental disomy.12938037Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJHuman geneticsSkeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet. 2003 Oct; 113(5):447-51.Hum Genet2003-08-21T00:00:002003Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).27116846Colindres JV, Axelrad M, McCullough L, Smith EO, Huang GO, Tu DD, Bercaw-Pratt JL, Cheni MJ, Mendiratta M, Gunn S, Sutton R, Macias C, Karaviti LPPediatric endocrinology reviews : PEREvidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. Pediatr Endocrinol Rev. 2016 Mar; 13(3):585-601.Pediatr Endocrinol Rev2016-03-01T00:00:002016Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood.10951461Sutton VR, Shaffer LGAmerican journal of medical geneticsSearch for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. Am J Med Genet. 2000 Aug 28; 93(5):381-7.Am J Med Genet2000-08-28T00:00:002000Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.74Professor10Assistant Professor14Associate Professor42Director6Adjunct Professor12239715Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LGAmerican journal of medical geneticsSubtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms. Am J Med Genet. 2002 Sep 15; 112(1):23-7.Am J Med Genet2002-09-15T00:00:002002Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.11292221Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GDJournal of child neurologyMitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8.J Child Neurol2001-02-01T00:00:002001Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.Authorship 3167924Authorship 3167936Authorship 31679422Authorship 3167955Authorship 3167964Authorship 31679711Authorship 31679811Authorship 3167995Authorship 31680011Authorship 316801Authorship 3168021Authorship 3168032Authorship 316804Authorship 3168056Authorship 31680626984560Atwal PS, Medina CR, Burrage LC, Sutton VRJournal of human geneticsNineteen-year follow-up of a patient with severe glutathione synthetase deficiency. J Hum Genet. 2016 Jul; 61(7):669-72.J Hum Genet2016-03-17T00:00:002016Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.26936850Miller MJ, Bostwick BL, Kennedy AD, Donti TR, Sun Q, Sutton VR, Elsea SHJIMD reportsChronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. JIMD Rep. 2016; 30:39-44.JIMD Rep2016-03-03T00:00:002016Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions.26833328Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B, DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra TAmerican journal of human geneticsDe Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet. 2016 Feb 04; 98(2):373-81.Am J Hum Genet2016-01-28T00:00:002016De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.23378291Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle DHuman mutationPhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat. 2013 Apr; 34(4):566-71.Hum Mutat2013-03-04T00:00:002013PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.27225280Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LAD, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SHJournal of inherited metabolic diseaseErratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2016 09; 39(5):757.J Inherit Metab Dis2016-09-01T00:00:002016Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.22281936Robin NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L, Members of in-service exam subcommitteesGenetics in medicine : official journal of the American College of Medical GeneticsThe development and implementation of an in-service exam for medical genetics residency programs. Genet Med. 2012 May; 14(5):552-7.Genet Med2012-01-26T00:00:002012The development and implementation of an in-service exam for medical genetics residency programs.21358181Sutton RAdvances in oto-rhino-laryngologyReferring patients for a medical genetics consultation and genetic counseling. Adv Otorhinolaryngol. 2011; 70:25-27.Adv Otorhinolaryngol2011-02-24T00:00:002011Referring patients for a medical genetics consultation and genetic counseling.16331412Rosa AL, Wu YQ, Kwabi-Addo B, Coveler KJ, Reid Sutton V, Shaffer LGChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biologyAllele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32. Chromosome Res. 2005; 13(8):809-18.Chromosome Res2005-12-08T00:00:002005Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.Authorship 3172111227412853McGuire AL, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, Sanchez LA, Molecular Autopsy Consortium of Houston (MATCH)Genome researchThe ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9.Genome Res2016-07-13T00:00:002016The ethics of conducting molecular autopsies in cases of sudden death in the young.6701 FANNINHouston, 77030TX12872843Sutton VR, O'Brien WE, Clark GD, Kim J, Wanders RJJournal of inherited metabolic disease3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2003; 26(1):69-71.J Inherit Metab Dis2003-01-01T00:00:0020033-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.12108829Sutton VRObstetrics and gynecology clinics of North AmericaTay-Sachs disease screening and counseling families at risk for metabolic disease. Obstet Gynecol Clin North Am. 2002 Jun; 29(2):287-96.Obstet Gynecol Clin North Am2002-06-01T00:00:002002Tay-Sachs disease screening and counseling families at risk for metabolic disease.Authorship 32013514Authorship 32020815Authorship 3207944Authorship 32265413Authorship 3232391726633545Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SEGenetics in medicine : official journal of the American College of Medical GeneticsMolecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.Genet Med2015-12-03T00:00:002015Molecular diagnostic experience of whole-exome sequencing in adult patients.26853229Bostwick B, Fang P, Patel A, Sutton VRAmerican journal of medical genetics. Part C, Seminars in medical geneticsPhenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):9-20.Am J Med Genet C Semin Med Genet2016-02-07T00:00:002016Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.26924530White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMBAmerican journal of human geneticsDVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.Am J Hum Genet2016-02-25T00:00:002016DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.27087445Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra ARCellAsprosin, a Fasting-Induced Glucogenic Protein Hormone. Cell. 2016 Apr 21; 165(3):566-79.Cell2016-04-14T00:00:002016Asprosin, a Fasting-Induced Glucogenic Protein Hormone.Authorship 325644827504266Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SHMolecular genetics and metabolism reportsDiagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Sep; 8:61-6.Mol Genet Metab Rep2016-07-27T00:00:002016Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.Authorship 3267912527523599Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla GAmerican journal of human geneticsGNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 09 01; 99(3):704-710.Am J Hum Genet2016-08-11T00:00:002016GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.12624155Coveler KJ, Sutton VR, Knox-DuBois C, Shaffer LGJournal of medical geneticsComprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14. J Med Genet. 2003 Mar; 40(3):e26.J Med Genet2003-03-01T00:00:002003Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14.17551330Brunetti-Pierri N, Seidel GF, Levy ML, Reid Sutton VClinical dysmorphologyParkes Weber syndrome occurring in a family with capillary malformations. Clin Dysmorphol. 2007 Jul; 16(3):167-171.Clin Dysmorphol2007-07-01T00:00:002007Parkes Weber syndrome occurring in a family with capillary malformations.Authorship 327414727448163Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SHGenetic testing and molecular biomarkersMetabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep; 20(9):485-95.Genet Test Mol Biomarkers2016-07-22T00:00:002016Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism.18179902Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel AAmerican journal of human genetics22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.Am J Hum Genet2008-01-01T00:00:00200822q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.18414210Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel AGenetics in medicine : official journal of the American College of Medical GeneticsMicroduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77.Genet Med2008-04-01T00:00:002008Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.19844256Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SWEuropean journal of human genetics : EJHGClinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.Eur J Hum Genet2009-10-21T00:00:002009Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.20684007Dhar SU, Taylor T, Trinh C, Sutton VRAmerican journal of medical genetics. Part ACranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature. Am J Med Genet A. 2010 Sep; 152A(9):2335-8.Am J Med Genet A2010-09-01T00:00:002010Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature.20981291Douglas G, Axelrad ME, Brandt ML, Crabtree E, Dietrich JE, French S, Gunn S, Karaviti L, Lopez ME, Macias CG, McCullough LB, Suresh D, Sutton VRInternational journal of pediatric endocrinologyConsensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team. Int J Pediatr Endocrinol. 2010; 2010:919707.Int J Pediatr Endocrinol2010-10-17T00:00:002010Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team.15666313Sutton VR, Hyland JC, Phillips WA, Schlesinger AE, Brill PWAmerican journal of medical genetics. Part AA dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. Am J Med Genet A. 2005 Mar 01; 133A(2):209-12.Am J Med Genet A2005-03-01T00:00:002005A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.21963082Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pe?a L, Smith B, Urv T, Venditti C, Chakarapani AMolecular genetics and metabolismChronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):26-33.Mol Genet Metab2011-09-10T00:00:002011Chronic management and health supervision of individuals with propionic acidemia.22000903Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani AMolecular genetics and metabolismAcute management of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):16-25.Mol Genet Metab2011-09-24T00:00:002011Acute management of propionic acidemia.22009732Martinez HR, Niu MC, Sutton VR, Pignatelli R, Vatta M, Jefferies JLAmerican journal of medical genetics. Part ACoffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. Am J Med Genet A. 2011 Dec; 155A(12):3030-4.Am J Med Genet A2011-10-18T00:00:002011Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.22711065Stark RJ, Naik-Mathuria BJ, Lam FW, Olutoye OO, Sutton VR, Shekerdemian LSASAIO journal (American Society for Artificial Internal Organs : 1992)Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia. ASAIO J. 2012 Jul-Aug; 58(4):438-9.ASAIO J2012-07-01T00:00:002012Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia.22729222Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RKNature geneticsMosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012 Jun 24; 44(8):928-33.Nat Genet2012-06-24T00:00:002012Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.22846370Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SEMolecular genetics and metabolismHigh prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8.Mol Genet Metab2012-07-16T00:00:002012High prevalence of overweight and obesity in females with phenylketonuria.17382127Berg JS, French SL, McCullough LB, Kleppe S, Sutton VR, Gunn SK, Karaviti LPThe Journal of pediatricsEthical and legal implications of genetic testing in androgen insensitivity syndrome. J Pediatr. 2007 Apr; 150(4):434-8.J Pediatr2007-04-01T00:00:002007Ethical and legal implications of genetic testing in androgen insensitivity syndrome.27552071Almannai M, Marom R, Sutton VRCurrent opinion in pediatricsNewborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing. Curr Opin Pediatr. 2016 12; 28(6):694-699.Curr Opin Pediatr2016-12-01T00:00:002016Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.17506108Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DLAmerican journal of medical genetics. Part AChromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.Am J Med Genet A2007-06-15T00:00:002007Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.17546030Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IBNature geneticsMutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul; 39(7):836-8.Nat Genet2007-06-03T00:00:002007Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.17621479Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IBJournal of child neurologyPhenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.J Child Neurol2007-02-01T00:00:002007Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.17607705Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VRAmerican journal of medical genetics. Part AMicroarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.Am J Med Genet A2007-08-01T00:00:002007Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.18348260Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VRAmerican journal of medical genetics. Part ADuplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. Am J Med Genet A. 2008 Apr 15; 146A(8):1042-8.Am J Med Genet A2008-04-15T00:00:002008Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.Authorship 100122418468308Williams K, Scheimann A, Sutton V, Hayslett E, Glaze DGJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineSleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. J Clin Sleep Med. 2008 Apr 15; 4(2):111-8.J Clin Sleep Med2008-04-15T00:00:002008Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition.18550408Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GDMolecular genetics and metabolismCPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008 Aug; 94(4):422-427.Mol Genet Metab2008-06-11T00:00:002008CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.18925666Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark GAmerican journal of medical genetics. Part ANeuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15; 146A(22):2871-8.Am J Med Genet A2008-11-15T00:00:002008Neuroimaging aspects of Aicardi syndrome.19116729Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IBHuman geneticsNon-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar; 125(2):211-6.Hum Genet2009-01-01T00:00:002009Non-random X chromosome inactivation in Aicardi syndrome.Authorship 6528761Authorship 6542481727854361Sutton VR, Blitzer MGGenetics in medicine : official journal of the American College of Medical GeneticsThe ABMGG's response to a commentary on the decision to create a 24-month specialty of Laboratory Genetics and Genomics. Genet Med. 2017 03; 19(3):362-363.Genet Med2016-11-17T00:00:002016The ABMGG's response to a commentary on the decision to create a 24-month specialty of Laboratory Genetics and Genomics.27959697Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JRThe New England journal of medicineResolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.N Engl J Med2016-12-07T00:00:002016Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.19676059Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CAAmerican journal of medical genetics. Part ACraniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep; 149A(9):1916-21.Am J Med Genet A2009-09-01T00:00:002009Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.19706438Yang SY, He XY, Olpin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik MProceedings of the National Academy of Sciences of the United States of AmericaMental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. Proc Natl Acad Sci U S A. 2009 Sep 01; 106(35):14820-4.Proc Natl Acad Sci U S A2009-08-17T00:00:002009Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.19760649Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IBAmerican journal of medical genetics. Part AA genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2113-21.Am J Med Genet A2009-10-01T00:00:002009A genome-wide screen for copy number alterations in Aicardi syndrome.19968947Axelrad ME, Berg JS, Coker LA, Dietrich J, Adcock L, French SL, Gunn S, Ligon BL, McCullough LB, Sutton VR, Karaviti LPAdvances in pediatricsThe gender medicine team: "it takes a village". Adv Pediatr. 2009; 56:145-64.Adv Pediatr2009-01-01T00:00:002009The gender medicine team: "it takes a village".20736978Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz PEuropean journal of human genetics : EJHGDuplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7.Eur J Hum Genet2010-08-25T00:00:002010Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.20854095Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang PGenetic testing and molecular biomarkersPORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13.Genet Test Mol Biomarkers2010-09-20T00:00:002010PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.20458665Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver IAmerican journal of perinatologyManagement of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol. 2010 Nov; 27(10):775-84.Am J Perinatol2010-05-10T00:00:002010Management of ornithine transcarbamylase deficiency in pregnancy.20583190Erez A, Plunkett K, Sutton VR, McGuire ALAmerican journal of medical genetics. Part AThe right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm. Am J Med Genet A. 2010 Jul; 152A(7):1774-80.Am J Med Genet A2010-07-01T00:00:002010The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm.Authorship 7566044Authorship 7567013127480077Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HHAmerican journal of medical genetics. Part ASRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A. 2016 12; 170(12):3165-3171.Am J Med Genet A2016-08-02T00:00:002016SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.27799064Eldomery MK, Akdemir ZC, V?gtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VRGenome medicineMIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.Genome Med2016-11-01T00:00:002016MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.22494213Douglas G, Axelrad ME, Brandt ML, Crabtree E, Dietrich JE, French S, Gunn S, Karaviti L, Lopez ME, Macias CG, McCullough LB, Suresh D, Austin E, Reid Sutton VPediatric annalsGuidelines for evaluating and managing children born with disorders of sexual development. Pediatr Ann. 2012 Apr; 41(4):e1-7.Pediatr Ann2012-04-01T00:00:002012Guidelines for evaluating and managing children born with disorders of sexual development.21271668Fruhman G, El-Hattab AW, Belmont JW, Patel A, Cheung SW, Sutton VRAmerican journal of medical genetics. Part ASuspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8.Am J Med Genet A2010-12-22T00:00:002010Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.Authorship 7848283Authorship 78491327Authorship 785455727900673Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SHJIMD reportsExpansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Rep. 2017; 35:33-37.JIMD Rep2016-11-30T00:00:002016Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.27588455Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla GAmerican journal of human geneticsGNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 09 01; 99(3):786.Am J Hum Genet2016-09-01T00:00:002016GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.23348768Monaghan KG, Benkendorf J, Cherry AM, Gross SJ, Richards CS, Sutton VR, Watson MS, Laboratory Quality Assurance Committee of the American College of Medical Genetics and Genomics, Professional Practice and Guidelines Committee of the American College of Medical Genetics and GenomGenetics in medicine : official journal of the American College of Medical GeneticsACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions. Genet Med. 2013 Apr; 15(4):314-5.Genet Med2013-01-24T00:00:002013ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.21986446Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar MLMolecular genetics and metabolismNatural history of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):5-9.Mol Genet Metab2011-09-22T00:00:002011Natural history of propionic acidemia.Authorship 840409622378287Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi OEuropean journal of human genetics : EJHG19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet. 2012 Aug; 20(8):852-6.Eur J Hum Genet2012-02-29T00:00:00201219q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.22423553Agadi S, Sutton VR, Quach MM, Riviello JJClinical EEG and neuroscienceThe electroencephalogram in neonatal maple syrup urine disease: a case report. Clin EEG Neurosci. 2012 Jan; 43(1):64-7.Clin EEG Neurosci2012-01-01T00:00:002012The electroencephalogram in neonatal maple syrup urine disease: a case report.28299356Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PMCold Spring Harbor molecular case studiesAn exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.Cold Spring Harb Mol Case Stud2017-03-01T00:00:002017An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.22681940Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RAJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusOphthalmologic findings in Aicardi syndrome. J AAPOS. 2012 Jun; 16(3):238-41.J AAPOS2012-06-01T00:00:002012Ophthalmologic findings in Aicardi syndrome.22949511Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PHHuman molecular geneticsMutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan 01; 22(1):1-17.Hum Mol Genet2012-09-04T00:00:002012Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Authorship 8684433228327206Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, K?ry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JRGenome medicineLessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.Genome Med2017-03-21T00:00:002017Lessons learned from additional research analyses of unsolved clinical exome cases.Authorship 868559228361097Wong BK, Sutton VR, Lewis RA, Van den Veyver IBMolecular genetics & genomic medicineIndependent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. Mol Genet Genomic Med. 2017 Mar; 5(2):117-121.Mol Genet Genomic Med2017-01-25T00:00:002017Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.9337408Sutton VR, Pan Y, Craigen WJMammalian genome : official journal of the International Mammalian Genome SocietyRegional localization of the mouse argininosuccinate lyase gene to chromosome 5. Mamm Genome. 1997; 8(11):871.Mamm Genome1997-01-01T00:00:001997Regional localization of the mouse argininosuccinate lyase gene to chromosome 5.Authorship 873140428626639Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BHMolecular genetics and metabolism reportsA non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Mol Genet Metab Rep. 2017 Sep; 12:57-61.Mol Genet Metab Rep2017-06-07T00:00:002017A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.28693988Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BHMolecular genetics and metabolismMilder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.Mol Genet Metab2017-06-29T00:00:002017Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.11857621McGowan KD, Weiser JJ, Horwitz J, Berend SA, McCaskill C, Sutton VR, Shaffer LGPrenatal diagnosisThe importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. Prenat Diagn. 2002 Feb; 22(2):141-3.Prenat Diagn2002-02-01T00:00:002002The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.Authorship 875398516158440Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IBAmerican journal of medical genetics. Part AFacial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8.Am J Med Genet A2005-10-15T00:00:002005Facial and physical features of Aicardi syndrome: infants to teenagers.16225835Amir RE, Sutton VR, Van den Veyver IBJournal of child neurologyNewborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. J Child Neurol. 2005 Sep; 20(9):779-83.J Child Neurol2005-09-01T00:00:002005Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy.29106398Duerrschmid C, He Y, Wang C, Li C, Bournat JC, Romere C, Saha PK, Lee ME, Phillips KJ, Jain M, Jia P, Zhao Z, Farias M, Wu Q, Milewicz DM, Sutton VR, Moore DD, Butte NF, Krashes MJ, Xu Y, Chopra ARNature medicineAsprosin is a centrally acting orexigenic hormone. Nat Med. 2017 Dec; 23(12):1444-1453.Nat Med2017-11-06T00:00:002017Asprosin is a centrally acting orexigenic hormone.18412278Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SWAmerican journal of medical genetics. Part ALow-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405.Am J Med Genet A2008-06-01T00:00:002008Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.21355048Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JRHuman molecular geneticsCopy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.Hum Mol Genet2011-02-25T00:00:002011Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.22078457Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Pe?a L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman ALMolecular genetics and metabolismNeurologic considerations in propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):10-5.Mol Genet Metab2011-10-19T00:00:002011Neurologic considerations in propionic acidemia.Authorship 87971635Authorship 8800446Authorship 88006957Authorship 88042516Authorship 8822462Authorship 88307412Authorship 8835073Authorship 88360210Authorship 88438514Authorship 8848519Authorship 885406329159458Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJJIMD reportsCardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa. JIMD Rep. 2018; 42:9-17.JIMD Rep2017-11-21T00:00:002017Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.29269105Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AWMolecular genetics and metabolismDisturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 03; 123(3):309-316.Mol Genet Metab2017-12-12T00:00:002017Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.29419819Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SHGenetics in medicine : official journal of the American College of Medical GeneticsA metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 10; 20(10):1274-1283.Genet Med2018-02-08T00:00:002018A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.29502920El-Hattab AW, Almannai M, Sutton VRPediatric clinics of North AmericaNewborn Screening: History, Current Status, and Future Directions. Pediatr Clin North Am. 2018 04; 65(2):389-405.Pediatr Clin North Am2017-12-28T00:00:002017Newborn Screening: History, Current Status, and Future Directions.29502921El-Hattab AW, Sutton VRPediatric clinics of North AmericaApproach to Inborn Errors of Metabolism in Pediatrics. Pediatr Clin North Am. 2018 04; 65(2):xix-xx.Pediatr Clin North Am2018-04-01T00:00:002018Approach to Inborn Errors of Metabolism in Pediatrics.28888854Jiang Y, Almannai M, Sutton VR, Sun Q, Elsea SHMolecular genetics and metabolismQuantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. Mol Genet Metab. 2017 11; 122(3):39-45.Mol Genet Metab2017-08-31T00:00:002017Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.28973083Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SRJAMA pediatricsUse of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.JAMA Pediatr2017-12-04T00:00:002017Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.29100089K?ry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomm?-Pichon AS, Lesca G, Sellars EA, Berg J, Carr? W, Busk ?L, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ?L, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogn? B, GEM HUGO, Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, B?zieau S, Odent S, Elgersma Y, Mercier SAmerican journal of human geneticsDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.Am J Hum Genet2017-11-02T00:00:002017De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.29100092Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PMAmerican journal of human geneticsMutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.Am J Hum Genet2017-11-02T00:00:002017Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".29656860Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, K?ry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJAmerican journal of human geneticsTruncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.Am J Hum Genet2018-04-12T00:00:002018Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.23496938Suresh D, Crawford J, Axelrad ME, Gunn SK, McCullough L, Smith OB, Sutton VR, Roth D, Karaviti LP, Dietrich JEInternational journal of pediatric endocrinologyAssessing sex assignment concordance with genotype and phenotype. Int J Pediatr Endocrinol. 2013 Mar 14; 2013(1):7.Int J Pediatr Endocrinol2013-03-14T00:00:002013Assessing sex assignment concordance with genotype and phenotype.true1ProfessorProfessortrue1Assistant ProfessorAssistant Professortrue1ProfessorProfessortrue1ProfessorProfessorD010013Disorders491400.848746Osteogenesis ImperfectaD010641Physiology160462780.431082PhenotypeAuthorship 8951857Authorship 8951982Authorship 8957783Authorship 91666118Authorship 92007231Authorship 9310919Authorship 9321372Authorship 93238513Authorship 93296910Authorship 9369624Authorship 9371479Authorship 93740711Authorship 9384639Authorship 93983421Authorship 93994688910377Sun J, Bird CH, Sutton V, McDonald L, Coughlin PB, De Jong TA, Trapani JA, Bird PIThe Journal of biological chemistryA cytosolic granzyme B inhibitor related to the viral apoptotic regulator cytokine response modifier A is present in cytotoxic lymphocytes. J Biol Chem. 1996 Nov 01; 271(44):27802-9.J Biol Chem1996-11-01T00:00:001996A cytosolic granzyme B inhibitor related to the viral apoptotic regulator cytokine response modifier A is present in cytotoxic lymphocytes.9701563Jans DA, Briggs LJ, Jans P, Froelich CJ, Parasivam G, Kumar S, Sutton VR, Trapani JAJournal of cell scienceNuclear targeting of the serine protease granzyme A (fragmentin-1). J Cell Sci. 1998 Sep; 111 ( Pt 17):2645-54.J Cell Sci1998-09-01T00:00:001998Nuclear targeting of the serine protease granzyme A (fragmentin-1).9774654Bird CH, Sutton VR, Sun J, Hirst CE, Novak A, Kumar S, Trapani JA, Bird PIMolecular and cellular biologySelective regulation of apoptosis: the cytotoxic lymphocyte serpin proteinase inhibitor 9 protects against granzyme B-mediated apoptosis without perturbing the Fas cell death pathway. Mol Cell Biol. 1998 Nov; 18(11):6387-98.Mol Cell Biol1998-11-01T00:00:001998Selective regulation of apoptosis: the cytotoxic lymphocyte serpin proteinase inhibitor 9 protects against granzyme B-mediated apoptosis without perturbing the Fas cell death pathway.29276006White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMBAmerican journal of human geneticsWNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.Am J Hum Genet2017-12-21T00:00:002017WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.30283904Jin Z, Burrage LC, Jiang MM, Lee YC, Bertin T, Chen Y, Tran A, Gibbs RA, Jhangiani S, Sutton VR, Rauch F, Lee B, Jain MJBMR plusWhole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. JBMR Plus. 2018 Jul; 2(4):235-239.JBMR Plus2018-04-16T00:00:002018Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI.30057141Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes AThe Journal of pediatricsMegaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2.J Pediatr2018-07-26T00:00:002018Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.29970925Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR, , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCSGenetics in medicine : official journal of the American College of Medical GeneticsGrowth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 02; 21(2):275-283.Genet Med2018-07-04T00:00:002018Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.30359278Najirad M, Ma MS, Rauch F, Sutton VR, Lee B, Retrouvey JM, Members of the BBD, Esfandiari SOrphanet journal of rare diseasesOral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study. Orphanet J Rare Dis. 2018 10 25; 13(1):187.Orphanet J Rare Dis2018-10-25T00:00:002018Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study.30593885Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR, Members of the BBD ConsortiumEuropean journal of medical geneticsOro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2019 Dec; 62(12):103606.Eur J Med Genet2018-12-26T00:00:002018Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.30655598Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, G?nel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR, Centers for Mendelian GenomicsGenetics in medicine : official journal of the American College of Medical GeneticsInsights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.Genet Med2019-01-18T00:00:002019Insights into genetics, human biology and disease gleaned from family based genomic studies.30670878Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Members of the UCDC,, Milosavljevic A, Lee BH, Elsea SHGenetics in medicine : official journal of the American College of Medical GeneticsUntargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.Genet Med2019-01-23T00:00:002019Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.30758072Ma MS, Najirad M, Taqi D, Retrouvey JM, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Sutton VR, Rauch F, Esfandiari SSpecial care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryCaries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. Spec Care Dentist. 2019 Mar; 39(2):214-219.Spec Care Dentist2019-02-13T00:00:002019Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study.30696467Tosi LL, Floor MK, Dollar CM, Gillies AP, Members of the Brittle Bone Disease Consortium, Hart TS, Cuthbertson DD, Sutton VR, Krischer JPOrphanet journal of rare diseasesAssessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. Orphanet J Rare Dis. 2019 01 29; 14(1):23.Orphanet J Rare Dis2019-01-29T00:00:002019Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.30371037McCann-Crosby B, Placencia FX, Adeyemi-Fowode O, Dietrich J, Franciskovich R, Gunn S, Axelrad M, Tu D, Mann D, Karaviti L, Sutton VRPediatric endocrinology reviews : PERChallenges in Prenatal Treatment with Dexamethasone. Pediatr Endocrinol Rev. 2018 Sep; 16(1):186-193.Pediatr Endocrinol Rev2018-09-01T00:00:002018Challenges in Prenatal Treatment with Dexamethasone.30536540Wong BKY, Sutton VRAmerican journal of medical genetics. Part C, Seminars in medical geneticsAicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):423-431.Am J Med Genet C Semin Med Genet2018-12-10T00:00:002018Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.D019465Disorders1012390.849224Craniofacial AbnormalitiesD000015Disorders3209960.616226Abnormalities, MultipleD008661Disorders681080.888866Metabolism, Inborn Errors2006-06-30NIHSUTTON, VERNON R2001-08-01Clinical Phenotype of Imprinted Genes of Chromosome 14K23HD0408432020-06-30NIHFONSECA, CLAUDIA2018-07-20Discovery and functional characterization of genic variants leading to Robinow syndrome and related skeletal dysplasias.R03HD092569Co-Principal InvestigatorPrincipal InvestigatorDepartment of MedicineDepartment of PediatricsDepartment of Molecular & Human GeneticsMedicine-Athero & LipoproteinsMolecular & Human GeneticsPediatrics-Endocrinology/MetabolismBaylor College of MedicineSANDESHNAGAMANISANDESH NAGAMANI29.70508570000000-95.401808700000001081NAGAMANI, SANDESHProfessorGADSHAULSKYGAD SHAULSKY29.70508570000000-95.401808700000003532SHAULSKY, GADProfessorMIR REZABEKHEIRNIAMIR REZA BEKHEIRNIA29.70508570000000-95.401808700000003927BEKHEIRNIA, MIR REZAAssistant ProfessorERICBOERWINKLEERIC BOERWINKLE0.000000000000000.000000000000002653BOERWINKLE, ERICAdjunct ProfessorTANYAEBLETANYA EBLE29.70508570000000-95.40180870000000765EBLE, TANYAAssociate ProfessorWILLIAMCRAIGENWILLIAM CRAIGEN29.70508570000000-95.401808700000002934CRAIGEN, WILLIAMProfessorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorPAWELSTANKIEWICZPAWEL STANKIEWICZ29.71073630000000-95.39660450000000166STANKIEWICZ, PAWELProfessorAuthorship 9410382130827496Cogn? B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskj?ld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ?L, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ?L, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomm?-Pichon AS, Deciphering Developmental Disorders study, F?rec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, B?zieau S, K?ry S, Campeau PMAmerican journal of human geneticsMissense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.Am J Hum Genet2019-02-28T00:00:002019Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.RICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service Professor3.897250.00504237732research areas2.882290.0195244156coauthor of174.02217.230360similar to11207selected publicationsSARAHELSEASARAH ELSEA0.000000000000000.000000000000004693ELSEA, SARAHProfessorAuthorship 9433671530918359Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GFGenetics in medicine : official journal of the American College of Medical GeneticsMobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318.Genet Med2019-03-28T00:00:002019Mobility in osteogenesis imperfecta: a multicenter North American study.Authorship 10951312Authorship 9452981330982611Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumic M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJAmerican journal of human geneticsPathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 05 02; 104(5):914-924.Am J Hum Genet2019-04-11T00:00:002019Pathogenic Variants in GPC4 Cause Keipert Syndrome.Authorship 9456432031014393Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Stankiewicz P, Belmont JW, Shaw CA, Cheung SW, Hanchard NA, Sutton VR, Bader PI, Lupski JRGenome medicineInterchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.Genome Med2019-04-23T00:00:002019Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.Authorship 9465531031069960Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DAAmerican journal of medical genetics. Part AReview of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382.Am J Med Genet A2019-05-08T00:00:002019Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.Authorship 127833823443412Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BHOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USANext-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9.Osteoporos Int2013-02-27T00:00:002013Next-generation sequencing for disorders of low and high bone mineral density.31133775Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WE, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SHFrontiers in neuroscience2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:394.Front Neurosci2019-05-08T00:00:0020192-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.31216405Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang YThe New England journal of medicineReanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.N Engl J Med2019-06-20T00:00:002019Reanalysis of Clinical Exome Sequencing Data.31245940McCann-Crosby B, Hyle L, Mann D, Gunn S, Flynn K, Bercaw-Pratt J, Adeyemi O, Dietrich J, Tu D, Austin PF, Sutton VR, Axelrad M, Karaviti LPediatric endocrinology reviews : PERHormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward? Pediatr Endocrinol Rev. 2019 Jun; 16(4):452-456.Pediatr Endocrinol Rev2019-06-01T00:00:002019Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward?31256877Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JRAmerican journal of human geneticsParalog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.Am J Hum Genet2019-06-27T00:00:002019Paralog Studies Augment Gene Discovery: DDX and DHX Genes.Authorship 9539184131407851Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Kort?m F, Lupski JRAmerican journal of medical genetics. Part ABiallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 10; 179(10):2056-2066.Am J Med Genet A2019-08-13T00:00:002019Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.31417602Nell?ker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogn? B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, K?ry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerov? V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM, Minerva ConsortiumFrontiers in geneticsEnabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet. 2019; 10:611.Front Genet2019-07-29T00:00:002019Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.31668702Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM, Task Force for Neonatal Genomics, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RAAmerican journal of human geneticsA Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.Am J Hum Genet2019-10-24T00:00:002019A Genocentric Approach to Discovery of Mendelian Disorders.31757659Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LCMolecular genetics and metabolismLiver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443.Mol Genet Metab2019-11-07T00:00:002019Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.31782611Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Sutton VRAmerican journal of medical genetics. Part APhenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 01; 182(1):38-52.Am J Med Genet A2019-11-29T00:00:002019Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).31772349Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SCSGenetics in medicine : official journal of the American College of Medical GeneticsPediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genet Med. 2020 03; 22(3):581-589.Genet Med2019-11-27T00:00:002019Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.Authorship 9747031931876392Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Members of the BBD Consortium, Nagamani SCS, Raggio CAmerican journal of medical genetics. Part AHearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.Am J Med Genet A2019-12-26T00:00:002019Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.BONNIEMCCANN-CROSBYBONNIE MCCANN-CROSBY0.000000000000000.000000000000006056MCCANN-CROSBY, BONNIEAssociate ProfessorAuthorship 978266232082103Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WJ, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SHFrontiers in neuroscienceCorrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:1344.Front Neurosci2020-01-29T00:00:002020Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.32063397Wang RY, da Silva Franco JF, L?pez-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz PMolecular genetics and metabolismThe long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Mol Genet Metab. 2020 03; 129(3):219-227.Mol Genet Metab2020-01-11T00:00:002020The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.Authorship 9803377Authorship 98034118Authorship 9803509Authorship 9803679Authorship 98041918Authorship 9804229Authorship 98046443Authorship 98046613Authorship 98048922Authorship 98055612Authorship 9806487Authorship 98070111Authorship 9807033931131341Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SC, Raggio CLJBMR plusA Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. JBMR Plus. 2019 May; 3(5):e10118.JBMR Plus2019-01-07T00:00:002019A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.31845315Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AWClinical geneticsVPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 04; 97(4):644-648.Clin Genet2019-12-26T00:00:002019VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.32127695South ST, McClure M, Astbury C, Bashford MT, Benkendorf J, Esplin ED, Monaghan KG, Oglesbee D, Sutton VR, Watson MS, ACMG Laboratory Quality Assurance and the Professional Practice and Guidelines CommitteesGenetics in medicine : official journal of the American College of Medical GeneticsRisk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 06; 22(6):983-985.Genet Med2020-03-04T00:00:002020Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).true1Adjunct ProfessorAdjunct ProfessorAuthorship 98882230Authorship 9888885332376988Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ram?rez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J, Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center, Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JREuropean journal of human genetics : EJHGFunctional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 09; 28(9):1243-1264.Eur J Hum Genet2020-05-06T00:00:002020Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.32381727Zhao S, Zhang Y, Chen W, Li W, Wang S, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J, Wu N, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) studyJournal of medical geneticsDiagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 01; 58(1):41-47.J Med Genet2020-05-07T00:00:002020Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).Authorship 9901575Authorship 9903441632449285Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DAAmerican journal of medical genetics. Part ARecessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966.Am J Med Genet A2020-05-25T00:00:002020Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.32461667Del Ca?o-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ram?n-Maiques SGenetics in medicine : official journal of the American College of Medical GeneticsCell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genet Med. 2020 10; 22(10):1598-1605.Genet Med2020-05-28T00:00:002020Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.Authorship 992854432593350Najirad M, Madathil SA, Rauch F, Sutton VR, Lee B, Retrouvey JM, Members of the Brittle Bone Diseases Consortium, Esfandiari SJournal of the American Dental Association (1939)Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study. J Am Dent Assoc. 2020 Jul; 151(7):480-490.e2.J Am Dent Assoc2020-07-01T00:00:002020Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study.Authorship 1169096Authorship 995727432730936Rauch D, Robinson ME, Seiltgens C, Sutton VR, Lee B, Glorieux F, Rauch FBoneAssessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Bone. 2020 11; 140:115547.Bone2020-07-27T00:00:002020Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles.true1Associate ProfessorAssociate ProfessorAuthorship 99784514Authorship 997989232843286Wang RY, da Silva Franco JF, L?pez-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz PMolecular genetics and metabolismCorrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):285.Mol Genet Metab2020-08-23T00:00:002020Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227].32828637Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SHMolecular genetics and metabolismUntargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154.Mol Genet Metab2020-08-05T00:00:002020Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.Authorship 998350532888393Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VRAmerican journal of medical genetics. Part ACharacterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. Am J Med Genet A. 2020 11; 182(11):2632-2640.Am J Med Genet A2020-09-05T00:00:002020Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.Authorship 999273832909658Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia FAmerican journal of medical genetics. Part AHematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.Am J Med Genet A2020-09-10T00:00:002020Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.Authorship 10000854Authorship 999812432954672Schwartz DD, Fein RH, Carvalho CMB, Sutton VR, Mazzeu JF, Axelrad MEAmerican journal of medical genetics. Part ANeurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3576-3583.Am J Med Genet A2020-09-21T00:00:002020Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.32974972Abu-Ghname A, Trost J, Davis MJ, Sutton VR, Zhang C, Guillen DE, Carvalho CMB, Maricevich RSAmerican journal of medical genetics. Part AExtremity anomalies associated with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3584-3592.Am J Med Genet A2020-09-25T00:00:002020Extremity anomalies associated with Robinow syndrome.RBekheirniaAuthorship 1189776Authorship 10027321233048444Zhang C, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMBAmerican journal of medical genetics. Part ANovel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.Am J Med Genet A2020-10-13T00:00:002020Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.Authorship 1005681633237614Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RSAmerican journal of medical genetics. Part ACraniofacial phenotypes associated with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3606-3612.Am J Med Genet A2020-11-25T00:00:002020Craniofacial phenotypes associated with Robinow syndrome.Authorship 10113101033580568Murali CN, Slater B, Musaad S, Cuthbertson D, Nguyen D, Turner A, Azamian M, Tosi L, Rauch F, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SCSClinical geneticsHealth-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779.Clin Genet2021-02-22T00:00:002021Health-related quality of life in adults with osteogenesis imperfecta.Authorship 1015474433781976Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow DAmerican journal of obstetrics & gynecology MFMPregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362.Am J Obstet Gynecol MFM2021-03-26T00:00:002021Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes.Authorship 10180871033964184Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, Sutton VR, Yilmaz Gulec E, Duan R, Fatih JM, Marafi D, Pehlivan D, Jhangiani SN, Gibbs RA, Posey JE, SYNAPS Study Group, Maqbool S, Lupski JR, Houlden HAmerican journal of medical genetics. Part ATwo novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.Am J Med Genet A2021-05-08T00:00:002021Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.23383720Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HHGenome medicineDe novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013; 5(2):11.Genome Med2013-02-05T00:00:002013De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.Authorship 1024909934251446Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea SHJAMA network openComparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 07 01; 4(7):e2114155.JAMA Netw Open2021-07-01T00:00:002021Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.Authorship 10268273034353949Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li YC, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee SS, Nguyen TK, Hsiao H, Egranov SD, Putluri N, Coarfa C, Hawke DH, Gunaratne PH, Tsai KL, Han L, Hung MC, Calin GA, Namour F, Gu?ant JL, Muntau AC, Blau N, Sutton VR, Schiff M, Feillet F, Zhang S, Lin C, Yang LScience (New York, N.Y.)A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science. 2021 08 06; 373(6555):662-673.Science2021-08-06T00:00:002021A noncoding RNA modulator potentiates phenylalanine metabolism in mice.true1Associate ProfessorAssociate ProfessorAuthorship 1028505734450031Marom R, Burrage LC, Venditti R, Cl?ment A, Blanco-S?nchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee BAmerican journal of human geneticsCOPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.Am J Hum Genet2021-08-26T00:00:002021COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.true1ProfessorProfessortrue1Distinguished Service ProfessorDistinguished Service ProfessorAuthorship 10309994334605855Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JRBrain : a journal of neurologyBiallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924.Brain2022-04-29T00:00:002022Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Authorship 1031370234633032Odom JD, Sutton VRClinical chemistryMetabolomics in Clinical Practice: Improving Diagnosis and Informing Management. Clin Chem. 2021 11 26; 67(12):1606-1617.Clin Chem2021-11-26T00:00:002021Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management.Authorship 1036501734980542Ficicioglu C, Liu N, Sun Q, Burdett A, Hata A, Porter M, Sutton VRMolecular genetics and metabolismPerceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. Mol Genet Metab. 2022 01; 135(1):35-41.Mol Genet Metab2021-12-18T00:00:002021Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database.Authorship 143611Authorship 118122Authorship 1037644435113812Song IW, Nagamani SC, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee BThe Journal of clinical investigationTargeting TGF-? for treatment of osteogenesis imperfecta. J Clin Invest. 2022 04 01; 132(7).J Clin Invest2022-04-01T00:00:002022Targeting TGF-? for treatment of osteogenesis imperfecta.Authorship 10401584535344616Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Can? TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JFHuman mutationPhenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.Hum Mutat2022-05-10T00:00:002022Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.35047859Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMBHGG advancesNovel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 Jan 13; 3(1):100074.HGG Adv2021-12-03T00:00:002021Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.Authorship 104361513Authorship 10444951635396900Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA, Undiagnosed Diseases Network, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LCAmerican journal of medical genetics. Part AA novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.Am J Med Genet A2022-04-09T00:00:002022A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.35471564Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JRAnnals of neurologyBiallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.Ann Neurol2022-05-28T00:00:002022Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.Authorship 137213524131980Chandler RJ, Tarasenko TN, Cusmano-Ozog K, Sun Q, Sutton VR, Venditti CP, McGuire PJGene therapyLiver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. Gene Ther. 2013 Dec; 20(12):1188-91.Gene Ther2013-10-17T00:00:002013Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.Authorship 104560222true1ProfessorProfessortrue1Assistant ProfessorAssistant ProfessorAuthorship 1198401336125320Lucari B, Tallis E, Sutton VR, Porea TPediatric hematology and oncologyDual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma. Pediatr Hematol Oncol. 2023 May; 40(4):422-428.Pediatr Hematol Oncol2022-09-20T00:00:002022Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma.true1ProfessorProfessortrue1ProfessorProfessorAuthorship 10558757Authorship 10594266Authorship 10603243Authorship 106043726Authorship 10575635Authorship 10592983Authorship 10595504Authorship 1059817336035248Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G, Baylor-Hopkins Center for Mendelian Genomics, Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, Lupski JRHGG advancesDevelopmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022 Oct 13; 3(4):100132.HGG Adv2022-08-04T00:00:002022Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.35970273Marulanda J, Ludwig K, Glorieux F, Lee B, Sutton VR, Members of the BBD Consortium, Retrouvey JM, Rauch FBoneCraniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP. Bone. 2022 11; 164:116516.Bone2022-08-12T00:00:002022Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.36658750Liu W, Lee B, Nagamani SCS, Nicol L, Rauch F, Rush ET, Sutton VR, Orwoll EThe Journal of clinical endocrinology and metabolismApproach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta. J Clin Endocrinol Metab. 2023 06 16; 108(7):1787-1796.J Clin Endocrinol Metab2023-06-16T00:00:002023Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.36206744Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y, Bellen HJAmerican journal of human geneticsDe novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 2022 10 06; 109(10):1932-1943.Am J Hum Genet2022-10-06T00:00:002022De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.35909981Zhang Y, Casanova M, Shanahan M, Sutton VR, Fox KCase reports in obstetrics and gynecologyObstetrical Challenges in Robinow Syndrome. Case Rep Obstet Gynecol. 2022; 2022:6481517.Case Rep Obstet Gynecol2022-07-22T00:00:002022Obstetrical Challenges in Robinow Syndrome.36688559Agarwal S, Mehollin-Ray A, Sutton VR, Iacobas IPrenatal diagnosisPrenatal diagnosis of vascular anomalies. Prenat Diagn. 2023 03; 43(3):318-327.Prenat Diagn2023-02-02T00:00:002023Prenatal diagnosis of vascular anomalies.35993290Turner A, Glinton KE, Sutton VRCurrent opinion in pediatricsAdvancements in therapeutics for inborn errors of metabolism. Curr Opin Pediatr. 2022 Dec 01; 34(6):559-564.Curr Opin Pediatr2022-08-22T00:00:002022Advancements in therapeutics for inborn errors of metabolism.Authorship 10638371936779427Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga AAmerican journal of medical genetics. Part ANosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May; 191(5):1164-1209.Am J Med Genet A2023-02-13T00:00:002023Nosology of genetic skeletal disorders: 2023 revision.Authorship 1786713Authorship 10684732337124138Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JRHGG advancesRare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188.HGG Adv2023-03-29T00:00:002023Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome.Authorship 10730291237317786Rork WC, Hertz AG, Wiese AD, Kostick KM, Nguyen D, Schneider SC, Shepherd WS, Cho H, Members of the BBDC, Murali CN, Lee B, Sutton VR, Storch EAAmerican journal of medical genetics. Part AA qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. Am J Med Genet A. 2023 09; 191(9):2267-2275.Am J Med Genet A2023-06-15T00:00:002023A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.Authorship 107846713Authorship 1078233437642979Marulanda J, Retrouvey JM, Lee B, Sutton VR, Members of the BBDC, Rauch F, Briner MOrthodontics & craniofacial researchCranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. Orthod Craniofac Res. 2024 Apr; 27(2):237-243.Orthod Craniofac Res2023-08-29T00:00:002023Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.37662495Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FDMolecular genetics and metabolism reportsElevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. Mol Genet Metab Rep. 2023 Dec; 37:101001.Mol Genet Metab Rep2023-08-21T00:00:002023Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.Authorship 1080060637754776McCann-Crosby B, Liang MC, Geffner ME, Koppin CM, Fraga NR, Sutton VR, Karaviti LP, Bhullar G, Kim MSInternational journal of neonatal screeningDifferences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen. Int J Neonatal Screen. 2023 Sep 01; 9(3).Int J Neonatal Screen2023-09-01T00:00:002023Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen.Authorship 10830911437934770Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K, Undiagnosed Diseases Network, Eyre D, Krakow D, Schedl T, Pak SC, Lee BHPLoS geneticsDominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.PLoS Genet2023-11-07T00:00:002023Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.Authorship 10847154Authorship 10845591338053934Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FDMolecular genetics and metabolism reportsCorrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency". Mol Genet Metab Rep. 2023 Dec; 37:101013.Mol Genet Metab Rep2023-10-09T00:00:002023Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".37993442Jacob P, Lindel?f H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsj? A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene GNPJ genomic medicineClinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. NPJ Genom Med. 2023 Nov 22; 8(1):39.NPJ Genom Med2023-11-22T00:00:002023Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.Authorship 2277033Authorship 10882091438281305Shepherd WS, Wiese AD, Cho HE, Rork WC, Baig MU, Kostick KM, Nguyen D, Carter EM, Members of the BBDC, Murali CN, Robinson ME, Schneider SC, Lee B, Sutton VR, Storch EAJournal of clinical psychology in medical settingsPsychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study. J Clin Psychol Med Settings. 2024 Jan 28.J Clin Psychol Med Settings2024-01-28T00:00:002024Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.Authorship 242912Authorship 251541Authorship 272492Authorship 280501Authorship 300572Authorship 36465Authorship 410141Authorship 30149Authorship 336681Authorship 492741Authorship 341823Authorship 1435898Authorship 563656Authorship 578931JENNIFERPOSEYJENNIFER POSEY7410POSEY, JENNIFERAssistant ProfessorAuthorship 1454465Authorship 1458077Authorship 14604825Authorship 1462857Authorship 146930824731683McCann-Crosby B, Mansouri R, Dietrich JE, McCullough LB, Sutton VR, Austin EG, Schlomer B, Roth DR, Karaviti L, Gunn S, Hicks MJ, Macias CGInternational journal of pediatric endocrinologyState of the art review in gonadal dysgenesis: challenges in diagnosis and management. Int J Pediatr Endocrinol. 2014; 2014(1):4.Int J Pediatr Endocrinol2014-04-14T00:00:002014State of the art review in gonadal dysgenesis: challenges in diagnosis and management.24769197Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VREuropean journal of medical geneticsClinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Jul; 57(7):339-344.Eur J Med Genet2014-04-24T00:00:002014Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.24782230Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM, Geer J, Henderson A, Semple RK, Biesecker LGAmerican journal of medical genetics. Part AClinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014 Jul; 164A(7):1713-33.Am J Med Genet A2014-04-29T00:00:002014Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.24791903Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RAAmerican journal of human geneticsDe novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.Am J Hum Genet2014-05-01T00:00:002014De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.24889030Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VRMolecular genetics and metabolismImproved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 Jul; 112(3):205-9.Mol Genet Metab2014-05-16T00:00:002014Improved standards for prenatal diagnosis of citrullinemia.Authorship 599002Authorship 445347Authorship 430707Authorship 442862Authorship 499791Authorship 5631410Authorship 807265Authorship 583112Authorship 5972712Authorship 150807825044986Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IBAmerican journal of medical genetics. Part APrenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014 Oct; 164A(10):2633-7.Am J Med Genet A2014-07-14T00:00:002014Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.Authorship 6243510Authorship 682106Authorship 67092Authorship 703276Authorship 994543Authorship 701085Authorship 739666Authorship 1550997