CARLOSBACINOCARLOS BACINO29.70508570000000-95.401808700000002643BACINO, CARLOSProfessorprns: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: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:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson24736736Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL, Carlin ME, Bader PI, Perras HM, Allanson JE, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SWEuropean journal of human genetics : EJHGDelineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.Eur J Hum Genet2014-04-16T00:00:002014Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.25326669Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, B?ttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, L?decke HJ, Kleefstra T, Wieczorek DHuman geneticsDe novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015 Jan; 134(1):97-109.Hum Genet2014-10-19T00:00:002014De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.Authorship 827657Authorship 864902Authorship 8571011Authorship 857612Authorship 961696Authorship 1089866Authorship 1134814Authorship 1135443Authorship 1150087Authorship 1170337Authorship 1175658Authorship 1191578Authorship 1206352Authorship 2276222Authorship 234122Authorship 247914Authorship 161283425614868Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CAMolecular genetics & genomic medicineTerminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov; 2(6):467-71.Mol Genet Genomic Med2014-08-08T00:00:002014Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.Authorship 298873Authorship 369348Authorship 382496Authorship 468652Authorship 54398Authorship 544751Authorship 272141925957469Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJAmerican journal of human geneticsAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9.Am J Hum Genet2015-05-07T00:00:002015Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Authorship 61656Authorship 648795Authorship 76515Authorship 8157Authorship 8200220Authorship 951607Authorship 979836Authorship 9843157604844Bacino CA, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, Graham JMAmerican journal of medical geneticsClinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am J Med Genet. 1995 May 08; 56(4):359-65.Am J Med Genet1995-05-08T00:00:001995Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.7550368Bacino C, Prezant TR, Bu X, Fournier P, Fischel-Ghodsian NPharmacogeneticsSusceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics. 1995 Jun; 5(3):165-72.Pharmacogenetics1995-06-01T00:00:001995Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness.8140062Bacino CA, Platt LD, Garber A, Carlson D, Pepkowitz S, Lachman RS, Sharony R, Rimoin DL, Graham JMPrenatal diagnosisFetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability. Prenat Diagn. 1993 Nov; 13(11):1011-9.Prenat Diagn1993-11-01T00:00:001993Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability.8410517Bernes SM, Bacino C, Prezant TR, Pearson MA, Wood TS, Fournier P, Fischel-Ghodsian NThe Journal of pediatricsIdentical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr. 1993 Oct; 123(4):598-602.J Pediatr1993-10-01T00:00:001993Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome.9217220Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JRAmerican journal of medical geneticsSevere clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. Am J Med Genet. 1997 Aug 08; 71(2):189-93.Am J Med Genet1997-08-08T00:00:001997Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.9934975Bacino CA, Lee B, Spikes AS, Shaffer LGAmerican journal of medical geneticsTrisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart. Am J Med Genet. 1999 Jan 15; 82(2):128-31.Am J Med Genet1999-01-15T00:00:001999Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart.26805781Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang YAmerican journal of human geneticsRecurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.Am J Hum Genet2016-01-21T00:00:002016Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.10564888Shaffer LG, Kashork CD, Bacino CA, Benke PJAmerican journal of medical geneticsCaution: telomere crossing. Am J Med Genet. 1999 Nov 26; 87(3):278-80.Am J Med Genet1999-11-26T00:00:001999Caution: telomere crossing.Authorship 29152514Authorship 2942869Authorship 3033904Authorship 3041541425315662Szafranski P, Golla S, Jin W, Fang P, Hixson P, Matalon R, Kinney D, Bock HG, Craigen W, Smith JL, Bi W, Patel A, Wai Cheung S, Bacino CA, Stankiewicz PEuropean journal of human genetics : EJHGNeurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.Eur J Hum Genet2014-10-15T00:00:002014Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.25908615Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JRHuman molecular geneticsAlu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77.Hum Mol Genet2015-04-23T00:00:002015Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.25956449Atwal 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.26070612Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SROrphanet journal of rare diseasesDe novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.Orphanet J Rare Dis2015-06-14T00:00:002015De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.9028464Huq AH, Braverman RM, Greenberg F, Bacino CA, Rimoin DL, Lachman RS, Levin MLAmerican journal of medical geneticsThe Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties. Am J Med Genet. 1997 Jan 20; 68(2):225-30.Am J Med Genet1997-01-20T00:00:001997The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties.10739772Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HYAmerican journal of human geneticsTerminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.Am J Hum Genet2000-03-17T00:00:002000Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.10842290Bacino CA, Kashork CD, Davino NA, Shaffer LGAmerican journal of medical geneticsDetection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet. 2000 Jun 05; 92(4):250-5.Am J Med Genet2000-06-05T00:00:002000Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.6701 FANNINHouston, 77030TX14991055Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DHNature geneticsMutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; 36(4):405-10.Nat Genet2004-02-29T00:00:002004Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.26870756Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones RO, Moser A, Wangler MFData in briefDataset for a case report of a homozygous PEX16 F332del mutation. Data Brief. 2016 Mar; 6:722-7.Data Brief2015-12-17T00:00:002015Dataset for a case report of a homozygous PEX16 F332del mutation.10767002Atkins KE, Gregg A, Spikes AS, Bacino CA, Bejjani BA, Kirkland J, Shaffer LGAmerican journal of medical geneticsIdentification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory. Am J Med Genet. 2000 Apr 24; 91(5):377-82.Am J Med Genet2000-04-24T00:00:002000Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory.15637724Sahoo T, Naeem R, Pham K, Chheng S, Noblin ST, Bacino CA, Gambello MJAmerican journal of medical genetics. Part AA patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation. Am J Med Genet A. 2005 Feb 15; 133A(1):93-8.Am J Med Genet A2005-02-15T00:00:002005A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.74Professor54Instructor98Visiting Assistant Professor14Associate Professor42Director15781839Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia FNeurologyCerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005 Mar 22; 64(6):1088-90.Neurology2005-03-22T00:00:002005Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.11298368Bodamer OA, Popek EJ, Bacino CAmerican journal of medical geneticsAtypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2.Am J Med Genet2001-04-22T00:00:002001Atypical presentation of amniotic band sequence.15921166Gallego MS, Zelaya G, Feliu AS, Rossetti L, Shaffer LG, Bailey KA, Bacino CA, Barreiro CZHemoglobinATR-16 due to a de novo complex rearrangement of chromosome 16. Hemoglobin. 2005; 29(2):141-50.Hemoglobin2005-01-01T00:00:002005ATR-16 due to a de novo complex rearrangement of chromosome 16.12687501Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LGAmerican journal of human geneticsPhysical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003 May; 72(5):1200-12.Am J Hum Genet2003-04-08T00:00:002003Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.11992486Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CAAmerican journal of medical geneticsFamilial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet. 2002 May 15; 109(4):311-7.Am J Med Genet2002-05-15T00:00:002002Familial complex chromosomal rearrangement resulting in a recombinant chromosome.Authorship 3215503Authorship 32177179Authorship 32225333Authorship 322457126774077Ilari R, Agosta G, Bacino CAmerican journal of medical genetics. Part A5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease. Am J Med Genet A. 2016 Mar; 170(3):688-93.Am J Med Genet A2016-01-15T00:00:0020165q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.27071622Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz PHuman geneticsPathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.Hum Genet2016-04-12T00:00:002016Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.16894363Tejero ME, Cai G, G?ring HH, Diego V, Cole SA, Bacino CA, Butte NF, Comuzzie AGInternational journal of obesity (2005)Linkage analysis of circulating levels of adiponectin in Hispanic children. Int J Obes (Lond). 2007 Mar; 31(3):535-42.Int J Obes (Lond)2006-08-08T00:00:002006Linkage analysis of circulating levels of adiponectin in Hispanic children.Authorship 325675626931468Chao YH, Robak LA, Xia F, Koenig MK, Adesina A, Bacino CA, Scaglia F, Bellen HJ, Wangler MFHuman molecular geneticsMissense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.Hum Mol Genet2016-02-29T00:00:002016Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.Authorship 3267981527545676Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, K?ry S, Besnard T, Isidor B, Latypova X, B?zieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MAAmerican journal of human geneticsDe Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.Am J Hum Genet2016-08-18T00:00:002016De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.17330859Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CAAmerican journal of medical genetics. Part ADeletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A. 2007 Apr 15; 143A(8):791-8.Am J Med Genet A2007-04-15T00:00:002007Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.15039983Bacino CAAmerican journal of medical genetics. Part ARe: clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly. Am J Med Genet A. 2004 Apr 01; 126A(1):109; author reply 110.Am J Med Genet A2004-04-01T00:00:002004Re: clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly.12673657Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JWAmerican journal of medical genetics. Part AToward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6.Am J Med Genet A2003-04-30T00:00:002003Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.Authorship 327511427287194Bi W, Cheung SW, Breman AM, Bacino CAAmerican journal of medical genetics. Part A4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 10; 170(10):2540-50.Am J Med Genet A2016-06-10T00:00:0020164p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.17846997Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJAmerican journal of human geneticsClinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct; 81(4):713-25.Am J Hum Genet2007-09-04T00:00:002007Clinical and molecular phenotype of Aicardi-Goutieres syndrome.18027081Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia FJournal of autism and developmental disordersBrief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.J Autism Dev Disord2007-11-20T00:00:002007Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.12900903McKenzie LJ, Cisneros PL, Torsky S, Bacino CA, Buster JE, Carson SA, Simpson JL, Bischoff FAmerican journal of medical genetics. Part APreimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation products. Am J Med Genet A. 2003 Aug 15; 121A(1):56-9.Am J Med Genet A2003-08-15T00:00:002003Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation products.19029900Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel ANature geneticsRecurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.Nat Genet2008-12-01T00:00:002008Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.19606479Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SHAmerican journal of medical genetics. Part AChromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. 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N Engl J Med. 2018 11 29; 379(22):2131-2139.N Engl J Med2018-10-10T00:00:002018Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.D000015Disorders3149790.618045Abnormalities, Multiple2023-04-30NIHLEE, BRENDAN2014-07-01BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01)U01HG007709Department of Molecular & Human GeneticsMolecular & Human GeneticsBaylor College of MedicineBENJAMINARENKIELBENJAMIN ARENKIEL29.70508570000000-95.401808700000001776ARENKIEL, BENJAMINProfessorWEIMINBIWEIMIN BI0.000000000000000.00000000000000241BI, WEIMINAssociate Professor2.821510.0034604707research areas2.436730.00988244143coauthor of235.99618.184660similar to11193selected publicationsRODNEYSAMACORODNEY SAMACO29.70508570000000-95.401808700000003787SAMACO, RODNEYVisiting Assistant ProfessorISABELLORENZOISABEL LORENZO29.70508570000000-95.401808700000003261LORENZO, ISABELInstructorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorMICHAELWANGLERMICHAEL WANGLER29.71009470000000-95.397401400000003839WANGLER, MICHAELAssociate ProfessorSAU WAICHEUNGSAU WAI CHEUNG29.69822590000000-95.35731940000000499CHEUNG, SAU WAIProfessorPAWELSTANKIEWICZPAWEL STANKIEWICZ29.71073630000000-95.39660450000000166STANKIEWICZ, PAWELProfessorAuthorship 94198753Authorship 94224132Authorship 942481530773277Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee BAmerican journal of human geneticsBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.Am J Hum Genet2019-02-14T00:00:002019Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.30817854Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, H?ron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Louren?o CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HHHuman mutationSLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925.Hum Mutat2019-04-24T00:00:002019SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.30639322Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Mar?ais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, C?raline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram SAmerican journal of human geneticsZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330.Am J Hum Genet2019-01-10T00:00:002019ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.RICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service ProfessorJUANBOTASJUAN BOTAS29.70508570000000-95.401808700000003330BOTAS, JUANProfessorVERNONSUTTONVERNON SUTTON29.70508570000000-95.401808700000003508SUTTON, VERNONProfessorSEEMALALANISEEMA LALANI29.71306600000000-95.39705500000000391LALANI, SEEMAProfessorSARAHELSEASARAH ELSEA0.000000000000000.000000000000004693ELSEA, SARAHProfessorAuthorship 12603318D0658861534050.688637Neurodevelopmental DisordersAuthorship 1278307Authorship 12803010Authorship 1288353323443412Sule 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.23657883Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodr?guez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz PGenome researchNAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.Genome Res2013-05-08T00:00:002013NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.23810381Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SRAmerican journal of human geneticsTM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.Am J Hum Genet2013-06-27T00:00:002013TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.24086149Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CAPLoS geneticsFusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797.PLoS Genet2013-09-26T00:00:002013Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.Authorship 9472762231101064Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi WGenome medicineCopy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.Genome Med2019-05-17T00:00:002019Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.Authorship 951091331269546Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong JThe New England journal of medicineC-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. N Engl J Med. 2019 07 04; 381(1):25-35.N Engl J Med2019-06-18T00:00:002019C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.Authorship 952720731350823Piccolo P, Sabatino V, Mithbaokar P, Polishchuk E, Hicks J, Polishchuk R, Bacino CA, Brunetti-Pierri NMolecular genetics & genomic medicineSkin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect. Mol Genet Genomic Med. 2019 09; 7(9):e844.Mol Genet Genomic Med2019-07-27T00:00:002019Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.Authorship 9537681231407851Karaca 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.Co-Principal InvestigatorAuthorship 9563303531578471Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogn? 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Study, Klee EW, Lefebvre V, Clark KJ, Depienne CGenetics in medicine : official journal of the American College of Medical GeneticsWidening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.Genet Med2019-10-03T00:00:002019Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.Authorship 9576179Authorship 957707631633297Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LHAmerican journal of medical genetics. Part ABiallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. 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Am J Med Genet A. 2020 01; 182(1):224-228.Am J Med Genet A2019-11-15T00:00:002019Agenesis of the corpus callosum and hepatoblastoma.Authorship 9747224631879022Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Mar?ais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, C?raline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram SAmerican journal of human geneticsZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137.Am J Hum Genet2019-12-24T00:00:002019ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.Authorship 9767211031999386Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DAHuman mutationBAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925.Hum Mutat2020-02-07T00:00:002020BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.Authorship 110426Authorship 1152403Authorship 9879681632330417Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao BAmerican journal of human geneticsDe Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.Am J Hum Genet2020-04-23T00:00:002020De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.Authorship 9891816Authorship 989536132415109Asselin L, Rivera Alvarez J, Heide S, Bonnet CS, Tilly P, Vitet H, Weber C, Bacino CA, Barana?o K, Chassevent A, Dameron A, Faivre L, Hanchard NA, Mahida S, McWalter K, Mignot C, Nava C, Rastetter A, Streff H, Thauvin-Robinet C, Weiss MM, Zapata G, Zwijnenburg PJG, Saudou F, Depienne C, Golzio C, H?ron D, Godin JDNature communicationsMutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nat Commun. 2020 05 15; 11(1):2441.Nat Commun2020-05-15T00:00:002020Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.32387503Liu Q, Karolak JA, Grochowski CM, Wilson TA, Rosenfeld JA, Bacino CA, Lalani SR, Patel A, Breman A, Smith JL, Cheung SW, Lupski JR, Bi W, Stankiewicz PGenomicsParental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941.Genomics2020-05-06T00:00:002020Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.Authorship 9925642732576985Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi WGenetics in medicine : official journal of the American College of Medical GeneticsCNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.Genet Med2020-06-24T00:00:002020CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.true1ProfessorProfessorAuthorship 998655932885560Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZAmerican journal of medical genetics. Part ASudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754.Am J Med Genet A2020-09-04T00:00:002020Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.Authorship 999049532891212Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-Gonz?lez F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JLancet (London, England)Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020 09 05; 396(10252):684-692.Lancet2020-09-05T00:00:002020Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.http://arenkiel-lab.orgArenkiel Lab WebsiteAuthorship 10007421133001864Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, M?ller MF, Y?pez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Undiagnosed Diseases Network, Lee BThe Journal of clinical investigationTranscriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).J Clin Invest2021-01-04T00:00:002021Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.Authorship 1007360933340455Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PMAmerican journal of human geneticsUBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.Am J Hum Genet2020-12-18T00:00:002020UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.Authorship 10166422633874999Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, CAUSES Study, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, SPARK Consortium, Earl RK, Nowakowski T, Bernier RA, Eichler EEGenome medicineRare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. 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Clin Pharmacokinet. 2022 02; 61(2):263-280.Clin Pharmacokinet2021-08-25T00:00:002021Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia.true1ProfessorProfessorAuthorship 125859true1Distinguished Service ProfessorDistinguished Service ProfessorAuthorship 11688214Authorship 1170218Authorship 133663Authorship 1172812Authorship 10355338Authorship 1035778434906456Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Brice?o I, G?mez A, Deb W, Conrad S, Besnard T, B?zieau S, Kr?ger E, K?ry S, Stankiewicz PGenetics in medicine : official journal of the American College of Medical GeneticsStankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. 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Am J Intellect Dev Disabil. 2022 01 01; 127(1):1-10.Am J Intellect Dev Disabil2022-01-01T00:00:002022Anxiety in Angelman Syndrome.Authorship 103913515Authorship 103978441Authorship 10409511335194938Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HTAmerican journal of medical genetics. Part APRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874.Am J Med Genet A2022-02-23T00:00:002022PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.35094443Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DAHuman mutationDelineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470.Hum Mutat2022-01-30T00:00:002022Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.35150089Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson AMolecular genetics & genomic medicineA multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843.Mol Genet Genomic Med2022-02-11T00:00:002022A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.Authorship 10436131035396900Merriweather 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.Authorship 13715519Authorship 1378891323695279Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel AEuropean journal of human genetics : EJHGCombined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87.Eur J Hum Genet2013-05-22T00:00:002013Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.24123848Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel AAmerican journal of medical genetics. Part AExpanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013 Dec; 161A(12):2953-63.Am J Med Genet A2013-10-02T00:00:002013Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.Authorship 1046881735637064Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SHMolecular genetics and metabolismNAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.Mol Genet Metab2022-04-18T00:00:002022NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.Authorship 10477811335675510Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, M?ller RS, Hammer TB, DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio ABrain : a journal of neurologyPhenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703.Brain2022-08-27T00:00:002022Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.true1ProfessorProfessortrue1ProfessorProfessortrue1Associate ProfessorAssociate ProfessorAuthorship 105659831Authorship 10594284Authorship 105677346Authorship 1056140836135330Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, T?rring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DAAmerican journal of medical genetics. Part AExome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 12; 188(12):3492-3504.Am J Med Genet A2022-09-22T00:00:002022Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.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. 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Genet Med. 2022 Dec; 24(12):2444-2452.Genet Med2022-09-16T00:00:002022Growth parameters in children with achondroplasia: A?7-year, prospective, multinational, observational study.36669111Akula SK, Marciano JH, Lim Y, Exposito-Alonso D, Hylton NK, Hwang GH, Neil JE, Dominado N, Bunton-Stasyshyn RK, Song JHT, Talukdar M, Schmid A, Teboul L, Mo A, Shin T, Finander B, Beck SG, Yeh RC, Otani A, Qian X, DeGennaro EM, Alkuraya FS, Maddirevula S, Cascino GD, Giannini C, Undiagnosed Diseases Network, Burrage LC, Rosenfield JA, Ketkar S, Clark GD, Bacino C, Lewis RA, Segal RA, Bazan JF, Smith KA, Golden JA, Cho G, Walsh CAProceedings of the National Academy of Sciences of the United States of AmericaTMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. Proc Natl Acad Sci U S A. 2023 Jan 24; 120(4):e2209964120.Proc Natl Acad Sci U S A2023-01-20T00:00:002023TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.Authorship 10675381736999555Denomm?-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-M?guez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozi?res B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin BGenetics in medicine : official journal of the American College of Medical GeneticsYWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 Jul; 25(7):100835.Genet Med2023-03-28T00:00:002023YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.Authorship 10677244337034625Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HTmedRxiv : the preprint server for health sciencesRare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023 Mar 29.medRxiv2023-03-29T00:00:002023Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.Authorship 1221361Authorship 1874712Authorship 10745232537398376Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogn? B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necp?l J, Jech R, Winkelmann J, Kopru??kov? MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bu?mann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Kr?ger E, B?zieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, K?ry S, Wang TmedRxiv : the preprint server for health sciencesLoss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv. 2023 Jun 16.medRxiv2023-06-16T00:00:002023Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.Authorship 1075728237495977Tjeertes J, Bacino CA, Bichell TJ, Bird LM, Bustamante M, Crean R, Jeste S, Komorowski RW, Krishnan ML, Miller MT, Nobbs D, Ochoa-Lubinoff C, Parkerson KA, Rotenberg A, Sadhwani A, Shen MD, Squassante L, Tan WH, Vincenzi B, Wheeler AC, Hipp JF, Berry-Kravis EJournal of neurodevelopmental disordersEnabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023 07 26; 15(1):22.J Neurodev Disord2023-07-26T00:00:002023Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).Authorship 139473Authorship 10800001837743782Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Undiagnosed Diseases Network, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JAAmerican journal of medical genetics. Part ADe novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan; 194(1):17-30.Am J Med Genet A2023-09-25T00:00:002023De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.Authorship 1081061537823031Savarirayan R, Hoernschemeyer DG, Ljungberg M, Zarate YA, Bacino CA, Bober MB, Legare JM, H?gler W, Quattrin T, Abuzzahab MJ, Hofman PL, White KK, Ma NS, Schnabel D, Sousa SB, Mao M, Smith A, Chakraborty M, Giwa A, Winding B, Volck B, Shu AD, McDonnell CEClinicalMedicineOnce-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial. EClinicalMedicine. 2023 Nov; 65:102258.EClinicalMedicine2023-10-02T00:00:002023Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial.true1Visiting Assistant ProfessorVisiting Assistant ProfessorAuthorship 2028220Authorship 10844671037984383Savarirayan R, Wilcox WR, Harmatz P, Phillips J, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day JThe Lancet. Child & adolescent healthVosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Child Adolesc Health. 2024 Jan; 8(1):40-50.Lancet Child Adolesc Health2023-11-18T00:00:002023Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.Authorship 1085436238095637Odom J, Bacino CA, Karaviti LP, Bi W, Hoyos-Martinez AJournal of pediatric endocrinology & metabolism : JPEMIntrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion. J Pediatr Endocrinol Metab. 2024 Jan 29; 37(1):84-89.J Pediatr Endocrinol Metab2023-12-14T00:00:002023Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.Authorship 10862765838181735Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HTAmerican journal of human geneticsA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 04; 111(1):96-118.Am J Hum Genet2024-01-04T00:00:002024A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.Authorship 1090185538431799Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler MGenetics in medicine : official journal of the American College of Medical GeneticsImproving access to exome sequencing in a medically underserved population through the Texome Project. 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PLoS Genet. 2014 Mar; 10(3):e1004258.PLoS Genet2014-03-27T00:00:002014Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.Authorship 466381Authorship 320295Authorship 343665Authorship 330384Authorship 345081Authorship 493216Authorship 513453Authorship 521932Authorship 421208Authorship 145864224958419Bornstein E, Bacino CA, Maliszewski K, Delaney K, Moyal R, Divon MYJournal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineIsolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome. J Ultrasound Med. 2014 Jul; 33(7):1305-7.J Ultrasound Med2014-07-01T00:00:002014Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome.Authorship 593771Authorship 440225Authorship 465708Authorship 48891Authorship 50966Authorship 1491881124398791Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SWEuropean journal of human genetics : EJHGSomatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.Eur J Hum Genet2014-01-08T00:00:002014Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.Authorship 513283Authorship 1492811625087610Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wisniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz PAmerican journal of human geneticsParental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. 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