WILLIAMCRAIGENWILLIAM CRAIGEN29.70508570000000-95.401808700000002934CRAIGEN, WILLIAMProfessorprns: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:hasMemberRolemember ofvivo:hasResearchArearesearch areasvivo:hasResearcherRoleresearch activitiesvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressMember Rolevivo:memberRoleOfmember role ofvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst nameGroupfoaf:lastNamelast nameOrganizationPersonAuthorship 156524725086207El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Jahoor F, Scaglia F, Craigen WJMitochondrionGlucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion. 2014 Sep; 18:63-9.Mitochondrion2014-07-30T00:00:002014Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.25326635Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CMJAMAMolecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.JAMA2014-11-12T00:00:002014Molecular findings among patients referred for clinical whole-exome sequencing.25411654El-Hattab AW, Emrick LT, Williamson KC, Craigen WJ, Scaglia FMeta geneThe effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene. 2013 Dec; 1:8-14.Meta Gene2013-10-15T00:00:002013The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.Authorship 8035113Authorship 799144Authorship 825875Authorship 827454Authorship 854636Authorship 860162Authorship 870671Authorship 8690413Authorship 915023Authorship 9831614Authorship 9698513Authorship 972406Authorship 1029617Authorship 1150853Authorship 1186871Authorship 1193673Authorship 11974013Authorship 1203866Authorship 1225326Authorship 161504Authorship 177348Authorship 203481Authorship 206047Authorship 1619595Authorship 162341625470454Gatliff J, East D, Crosby J, Abeti R, Harvey R, Craigen W, Parker P, Campanella MAutophagyTSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control. Autophagy. 2014; 10(12):2279-96.Autophagy2014-01-01T00:00:002014TSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control.25738457Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PECell metabolismThe GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 03; 21(3):417-27.Cell Metab2015-03-03T00:00:002015The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Authorship 333527Authorship 334444Authorship 401834Authorship 419011Authorship 462763Authorship 485574Authorship 49634Authorship 511506Authorship 515005Authorship 608281Authorship 608914Authorship 676593Authorship 703564Authorship 705725Authorship 717016Authorship 728794Authorship 752812Authorship 766262Authorship 813356Authorship 818527Authorship 819258Authorship 938542Authorship 9974243126822Craigen WJ, Caskey CTBiochimieThe function, structure and regulation of E. coli peptide chain release factors. Biochimie. 1987 Oct; 69(10):1031-41.Biochimie1987-10-01T00:00:001987The function, structure and regulation of E. coli peptide chain release factors.3297347Craigen WJ, Caskey CTCellTranslational frameshifting: where will it stop? Cell. 1987 Jul 03; 50(1):1-2.Cell1987-07-03T00:00:001987Translational frameshifting: where will it stop?3736654Craigen WJ, Caskey CTNatureExpression of peptide chain release factor 2 requires high-efficiency frameshift. Nature. 1986 Jul 17-23; 322(6076):273-5.Nature1986-07-01T00:00:001986Expression of peptide chain release factor 2 requires high-efficiency frameshift.3889910Craigen WJ, Cook RG, Tate WP, Caskey CTProceedings of the National Academy of Sciences of the United States of AmericaBacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2. Proc Natl Acad Sci U S A. 1985 Jun; 82(11):3616-20.Proc Natl Acad Sci U S A1985-06-01T00:00:001985Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2.7093405Craigen W, Bronson FHBiology of reproductionDeterioration of the capacity for sexual arousal in aged male mice. Biol Reprod. 1982 Jun; 26(5):869-74.Biol Reprod1982-06-01T00:00:001982Deterioration of the capacity for sexual arousal in aged male mice.7609436Gibson KM, Craigen W, Herman GE, Jakobs CJournal of inherited metabolic diseaseD-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis. 1993; 16(3):497-500.J Inherit Metab Dis1993-01-01T00:00:001993D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?8273985Wong LJ, Craigen WJ, O'Brien WEAnnals of internal medicinePostpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. Ann Intern Med. 1994 Feb 01; 120(3):216-7.Ann Intern Med1994-02-01T00:00:001994Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.8660977Sampson MJ, Lovell RS, Craigen WJGenomicsIsolation, characterization, and mapping of two mouse mitochondrial voltage-dependent anion channel isoforms. Genomics. 1996 Apr 15; 33(2):283-8.Genomics1996-04-15T00:00:001996Isolation, characterization, and mapping of two mouse mitochondrial voltage-dependent anion channel isoforms.8982955Craigen WJJournal of inherited metabolic diseasePersistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity. J Inherit Metab Dis. 1996; 19(6):793-4.J Inherit Metab Dis1996-01-01T00:00:001996Persistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity.9894884van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RAAnnals of neurologyD-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol. 1999 Jan; 45(1):111-9.Ann Neurol1999-01-01T00:00:001999D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?10430654Xu X, Decker W, Sampson MJ, Craigen WJ, Colombini MThe Journal of membrane biologyMouse VDAC isoforms expressed in yeast: channel properties and their roles in mitochondrial outer membrane permeability. J Membr Biol. 1999 Jul 15; 170(2):89-102.J Membr Biol1999-07-15T00:00:001999Mouse VDAC isoforms expressed in yeast: channel properties and their roles in mitochondrial outer membrane permeability.10444329Pan Y, Decker WK, Huq AH, Craigen WJGenomicsRetrotransposition of glycerol kinase-related genes from the X chromosome to autosomes: functional and evolutionary aspects. Genomics. 1999 Aug 01; 59(3):282-90.Genomics1999-08-01T00:00:001999Retrotransposition of glycerol kinase-related genes from the X chromosome to autosomes: functional and evolutionary aspects.9554745Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DAHuman mutationMutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat. 1998; 11(4):286-94.Hum Mutat1998-01-01T00:00:001998Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.9585585Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJAmerican journal of human geneticsPaternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet. 1998 Jun; 62(6):1551-5.Am J Hum Genet1998-06-01T00:00:001998Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia.10679197Huang T, Yang W, Pereira AC, Craigen WJ, Shih VEBiochemical and biophysical research communicationsCloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q. Biochem Biophys Res Commun. 2000 Feb 16; 268(2):298-301.Biochem Biophys Res Commun2000-02-16T00:00:002000Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q.Authorship 2915269Authorship 2977149Authorship 30009111Authorship 300102510861285Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VMHuman molecular geneticsHuman GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet. 2000 Jul 01; 9(11):1587-95.Hum Mol Genet2000-07-01T00:00:002000Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.25315662Szafranski 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.26322231Brahimi-Horn MC, Giuliano S, Saland E, Lacas-Gervais S, Sheiko T, Pelletier J, Bourget I, Bost F, F?ral C, Boulter E, Tauc M, Ivan M, Garmy-Susini B, Popa A, Mari B, Sarry JE, Craigen WJ, Pouyss?gur J, Mazure NMCancer & metabolismKnockout of Vdac1 activates hypoxia-inducible factor through reactive oxygen species generation and induces tumor growth by promoting metabolic reprogramming and inflammation. Cancer Metab. 2015; 3:8.Cancer Metab2015-08-26T00:00:002015Knockout of Vdac1 activates hypoxia-inducible factor through reactive oxygen species generation and induces tumor growth by promoting metabolic reprogramming and inflammation.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.26385640Orhan Akman H, Emmanuele V, Kurt YG, Kurt B, Sheiko T, DiMauro S, Craigen WJHuman molecular geneticsA novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015 Dec 01; 24(23):6801-10.Hum Mol Genet2015-09-18T00:00:002015A novel mouse model that recapitulates adult-onset glycogenosis type 4.9804816Sampson MJ, Ross L, Decker WK, Craigen WJThe Journal of biological chemistryA novel isoform of the mitochondrial outer membrane protein VDAC3 via alternative splicing of a 3-base exon. Functional characteristics and subcellular localization. J Biol Chem. 1998 Nov 13; 273(46):30482-6.J Biol Chem1998-11-13T00:00:001998A novel isoform of the mitochondrial outer membrane protein VDAC3 via alternative splicing of a 3-base exon. Functional characteristics and subcellular localization.10978366Kosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo NJournal of medical geneticsDiagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. J Med Genet. 2000 Sep; 37(9):E19.J Med Genet2000-09-01T00:00:002000Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.10525161Wu S, Sampson MJ, Decker WK, Craigen WJBiochimica et biophysica actaEach mammalian mitochondrial outer membrane porin protein is dispensable: effects on cellular respiration. Biochim Biophys Acta. 1999 Oct 13; 1452(1):68-78.Biochim Biophys Acta1999-10-13T00:00:001999Each mammalian mitochondrial outer membrane porin protein is dispensable: effects on cellular respiration.9228078Sampson MJ, Lovell RS, Craigen WJThe Journal of biological chemistryThe murine voltage-dependent anion channel gene family. Conserved structure and function. J Biol Chem. 1997 Jul 25; 272(30):18966-73.J Biol Chem1997-07-25T00:00:001997The murine voltage-dependent anion channel gene family. Conserved structure and function.9295077Craigen WJ, Lindsay EA, Bricker JT, Hawkins EP, Baldini AAmerican journal of medical geneticsDeletion of chromosome 22q11 and pseudohypoparathyroidism. Am J Med Genet. 1997 Oct 03; 72(1):63-5.Am J Med Genet1997-10-03T00:00:001997Deletion of chromosome 22q11 and pseudohypoparathyroidism.9311745Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey BAmerican journal of human geneticsA submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet. 1997 Aug; 61(2):395-401.Am J Hum Genet1997-08-01T00:00:001997A submicroscopic deletion in Xq26 associated with familial situs ambiguus.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.10982177Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PHHuman geneticsPartial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. Hum Genet. 2000 Jan; 106(1):19-28.Hum Genet2000-01-01T00:00:002000Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.11044447Anflous K, Armstrong DD, Craigen WJThe Journal of biological chemistryAltered mitochondrial sensitivity for ADP and maintenance of creatine-stimulated respiration in oxidative striated muscles from VDAC1-deficient mice. J Biol Chem. 2001 Jan 19; 276(3):1954-60.J Biol Chem2000-10-23T00:00:002000Altered mitochondrial sensitivity for ADP and maintenance of creatine-stimulated respiration in oxidative striated muscles from VDAC1-deficient mice.One Baylor PlazaHouston, 77030TX10501981Decker WK, Bowles KR, Schatte EC, Towbin JA, Craigen WJMammalian genome : official journal of the International Mammalian Genome SocietyRevised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis. Mamm Genome. 1999 Oct; 10(10):1041-2.Mamm Genome1999-10-01T00:00:001999Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis.14975248Graham BH, Craigen WJCurrent topics in developmental biologyGenetic approaches to analyzing mitochondrial outer membrane permeability. Curr Top Dev Biol. 2004; 59:87-118.Curr Top Dev Biol2004-01-01T00:00:002004Genetic approaches to analyzing mitochondrial outer membrane permeability.10631159Kosaki K, Kosaki R, Craigen WJ, Matsuo NAmerican journal of human geneticsIsoform-specific imprinting of the human PEG1/MEST gene. Am J Hum Genet. 2000 Jan; 66(1):309-12.Am J Hum Genet2000-01-01T00:00:002000Isoform-specific imprinting of the human PEG1/MEST gene.11885723Bodamer OA, Bravermann RM, Craigen WJJournal of paediatrics and child healthMultiple fractures in a 3-month-old infant with severe infantile osteopetrosis. J Paediatr Child Health. 2001 Oct; 37(5):520-2.J Paediatr Child Health2001-10-01T00:00:002001Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis.15253763Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JRClinical geneticsInterstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36.Clin Genet2004-08-01T00:00:002004Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.26851065El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia FMolecular genetics and metabolismImpaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016 Apr; 117(4):407-12.Mol Genet Metab2016-01-27T00:00:002016Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.10833333Decker WK, Craigen WJMolecular genetics and metabolismThe tissue-specific, alternatively spliced single ATG exon of the type 3 voltage-dependent anion channel gene does not create a truncated protein isoform in vivo. Mol Genet Metab. 2000 May; 70(1):69-74.Mol Genet Metab2000-05-01T00:00:002000The tissue-specific, alternatively spliced single ATG exon of the type 3 voltage-dependent anion channel gene does not create a truncated protein isoform in vivo.74Professor99Visiting Associate Professor14Associate Professor42Director6Adjunct Professor47Distinguished Service Professor12700169Arnaud P, Monk D, Hitchins M, Gordon E, Dean W, Beechey CV, Peters J, Craigen W, Preece M, Stanier P, Moore GE, Kelsey GHuman molecular geneticsConserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum Mol Genet. 2003 May 01; 12(9):1005-19.Hum Mol Genet2003-05-01T00:00:002003Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark.16246949Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JACirculationGenetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005 Nov 01; 112(18):2799-804.Circulation2005-10-24T00:00:002005Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.Authorship 3207856Authorship 3210682Authorship 321084826937404Thomas T, Craigen WJ, Moore R, Czosek R, Jefferies JLMolecular genetics and metabolism reportsArrhythmia as a cardiac manifestation in MELAS syndrome. Mol Genet Metab Rep. 2015 Sep; 4:9-10.Mol Genet Metab Rep2015-06-03T00:00:002015Arrhythmia as a cardiac manifestation in MELAS syndrome.26944031Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LCThe Journal of molecular diagnostics : JMDDetection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn. 2016 05; 18(3):446-453.J Mol Diagn2016-03-02T00:00:002016Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.14623814Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JACirculationClinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation. 2003 Nov 25; 108(21):2672-8.Circulation2003-11-17T00:00:002003Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.14695259Komarov AG, Graham BH, Craigen WJ, Colombini MBiophysical journalThe physiological properties of a novel family of VDAC-like proteins from Drosophila melanogaster. Biophys J. 2004 Jan; 86(1 Pt 1):152-62.Biophys J2004-01-01T00:00:002004The physiological properties of a novel family of VDAC-like proteins from Drosophila melanogaster.Authorship 326947527620692Lauterwasser J, Todt F, Zerbes RM, Nguyen TN, Craigen W, Lazarou M, van der Laan M, Edlich FScientific reportsThe porin VDAC2 is the mitochondrial platform for Bax retrotranslocation. Sci Rep. 2016 09 13; 6:32994.Sci Rep2016-09-13T00:00:002016The porin VDAC2 is the mitochondrial platform for Bax retrotranslocation.12604600Levy M, Faas GC, Saggau P, Craigen WJ, Sweatt JDThe Journal of biological chemistryMitochondrial regulation of synaptic plasticity in the hippocampus. J Biol Chem. 2003 May 16; 278(20):17727-34.J Biol Chem2003-02-25T00:00:002003Mitochondrial regulation of synaptic plasticity in the hippocampus.14978271Elefteriou F, Takeda S, Ebihara K, Magre J, Patano N, Kim CA, Ogawa Y, Liu X, Ware SM, Craigen WJ, Robert JJ, Vinson C, Nakao K, Capeau J, Karsenty GProceedings of the National Academy of Sciences of the United States of AmericaSerum leptin level is a regulator of bone mass. Proc Natl Acad Sci U S A. 2004 Mar 02; 101(9):3258-63.Proc Natl Acad Sci U S A2004-02-20T00:00:002004Serum leptin level is a regulator of bone mass.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 327425427484306Donti TR, Masand R, Scott DA, Craigen WJ, Graham BHMolecular genetics and metabolismExpanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016 09; 119(1-2):68-74.Mol Genet Metab2016-07-25T00:00:002016Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.17694548Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJHepatology (Baltimore, Md.)Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology. 2007 Oct; 46(4):1218-27.Hepatology2007-10-01T00:00:002007Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.18205204Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJHuman mutationClinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29(2):330-1.Hum Mutat2008-02-01T00:00:002008Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.15297879Sano M, Wang SC, Shirai M, Scaglia F, Xie M, Sakai S, Tanaka T, Kulkarni PA, Barger PM, Youker KA, Taffet GE, Hamamori Y, Michael LH, Craigen WJ, Schneider MDThe EMBO journalActivation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure. EMBO J. 2004 Sep 01; 23(17):3559-69.EMBO J2004-08-05T00:00:002004Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.15466086Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel HPediatricsClinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.Pediatrics2004-10-01T00:00:002004Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.14593090Darbandi-Tonkabon R, Manion BD, Hastings WR, Craigen WJ, Akk G, Bracamontes JR, He Y, Sheiko TV, Steinbach JH, Mennerick SJ, Covey DF, Evers ASThe Journal of pharmacology and experimental therapeuticsNeuroactive steroid interactions with voltage-dependent anion channels: lack of relationship to GABA(A) receptor modulation and anesthesia. J Pharmacol Exp Ther. 2004 Feb; 308(2):502-11.J Pharmacol Exp Ther2003-10-30T00:00:002003Neuroactive steroid interactions with voltage-dependent anion channels: lack of relationship to GABA(A) receptor modulation and anesthesia.2185472Lee CC, Craigen WJ, Muzny DM, Harlow E, Caskey CTProceedings of the National Academy of Sciences of the United States of AmericaCloning and expression of a mammalian peptide chain release factor with sequence similarity to tryptophanyl-tRNA synthetases. Proc Natl Acad Sci U S A. 1990 May; 87(9):3508-12.Proc Natl Acad Sci U S A1990-05-01T00:00:001990Cloning and expression of a mammalian peptide chain release factor with sequence similarity to tryptophanyl-tRNA synthetases.15886041Graham BH, Craigen WJMolecular genetics and metabolismMitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression. Mol Genet Metab. 2005 Aug; 85(4):308-17.Mol Genet Metab2005-08-01T00:00:002005Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression.19795160Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJPediatric cardiologyPTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol. 2010 Jan; 31(1):114-6.Pediatr Cardiol2009-10-01T00:00:002009PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.19914906Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JRJournal of medical geneticsRecurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. 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Mamm Genome. 1997; 8(11):871.Mamm Genome1997-01-01T00:00:001997Regional localization of the mouse argininosuccinate lyase gene to chromosome 5.Authorship 8703221828575647Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, T?rring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBAAmerican journal of human geneticsYY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 01; 100(6):907-925.Am J Hum Genet2017-06-01T00:00:002017YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.9934989Bodamer OA, Craigen WJAmerican journal of medical geneticsImportance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199.Am J Med Genet1999-01-15T00:00:001999Importance of measuring plasma cholesterol precursors.Authorship 872949528693988Almannai 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.11907043Weeber EJ, Levy M, Sampson MJ, Anflous K, Armstrong DL, Brown SE, Sweatt JD, Craigen WJThe Journal of biological chemistryThe role of mitochondrial porins and the permeability transition pore in learning and synaptic plasticity. J Biol Chem. 2002 May 24; 277(21):18891-7.J Biol Chem2002-03-20T00:00:002002The role of mitochondrial porins and the permeability transition pore in learning and synaptic plasticity.12142464Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SEProceedings of the National Academy of Sciences of the United States of AmericaMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2002 Aug 06; 99(16):10282-6.Proc Natl Acad Sci U S A2002-07-25T00:00:002002Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.Authorship 8753976Authorship 875511528704930Lai YC, Baker JS, Donti T, Graham BH, Craigen WJ, Anderson AEInternational journal of molecular sciencesMitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus. Int J Mol Sci. 2017 Jul 12; 18(7).Int J Mol Sci2017-07-12T00:00:002017Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus.12881569Cheng EH, Sheiko TV, Fisher JK, Craigen WJ, Korsmeyer SJScience (New York, N.Y.)VDAC2 inhibits BAK activation and mitochondrial apoptosis. Science. 2003 Jul 25; 301(5632):513-7.Science2003-07-25T00:00:002003VDAC2 inhibits BAK activation and mitochondrial apoptosis.28798025Miszalski-Jamka K, Jefferies JL, Mazur W, Glowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Klys J, Venner E, Muzny DM, Rycaj J, Bialkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MNCirculation. Cardiovascular geneticsNovel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug; 10(4).Circ Cardiovasc Genet2017-08-01T00:00:002017Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.Authorship 877197201754392Jones SN, Jones PG, Ibarguen H, Caskey CT, Craigen WJNucleic acids researchInduction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice. Nucleic Acids Res. 1991 Dec 11; 19(23):6547-51.Nucleic Acids Res1991-12-11T00:00:001991Induction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice.15477379Okada SF, O'Neal WK, Huang P, Nicholas RA, Ostrowski LE, Craigen WJ, Lazarowski ER, Boucher RCThe Journal of general physiologyVoltage-dependent anion channel-1 (VDAC-1) contributes to ATP release and cell volume regulation in murine cells. J Gen Physiol. 2004 Nov; 124(5):513-26.J Gen Physiol2004-10-11T00:00:002004Voltage-dependent anion channel-1 (VDAC-1) contributes to ATP release and cell volume regulation in murine cells.15710038Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JWBMC medical geneticsSNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.BMC Med Genet2005-02-14T00:00:002005SNP genotyping to screen for a common deletion in CHARGE syndrome.15957255Golovko MY, Hovda JT, Cai ZJ, Craigen WJ, Murphy EJLipidsTissue-dependent alterations in lipid mass in mice lacking glycerol kinase. Lipids. 2005 Mar; 40(3):287-93.Lipids2005-03-01T00:00:002005Tissue-dependent alterations in lipid mass in mice lacking glycerol kinase.16626625Krauskopf A, Eriksson O, Craigen WJ, Forte MA, Bernardi PBiochimica et biophysica actaProperties of the permeability transition in VDAC1(-/-) mitochondria. Biochim Biophys Acta. 2006 May-Jun; 1757(5-6):590-5.Biochim Biophys Acta2006-03-09T00:00:002006Properties of the permeability transition in VDAC1(-/-) mitochondria.17172942del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BBGenetics in medicine : official journal of the American College of Medical GeneticsIncreased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.Genet Med2006-12-01T00:00:002006Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.17207767Anflous-Pharayra K, Cai ZJ, Craigen WJBiochimica et biophysica actaVDAC1 serves as a mitochondrial binding site for hexokinase in oxidative muscles. Biochim Biophys Acta. 2007 Feb; 1767(2):136-42.Biochim Biophys Acta2006-11-23T00:00:002006VDAC1 serves as a mitochondrial binding site for hexokinase in oxidative muscles.17236112Brunetti-Pierri N, Wilfong AA, Hunter JV, Craigen WJNeuropediatricsA severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. Neuropediatrics. 2006 Oct; 37(5):308-11.Neuropediatrics2006-10-01T00:00:002006A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.17417626Baines CP, Kaiser RA, Sheiko T, Craigen WJ, Molkentin JDNature cell biologyVoltage-dependent anion channels are dispensable for mitochondrial-dependent cell death. Nat Cell Biol. 2007 May; 9(5):550-5.Nat Cell Biol2007-04-08T00:00:002007Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death.17916097Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SWClinical geneticsCharacterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007 Nov; 72(5):411-9.Clin Genet2007-10-03T00:00:002007Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.18622693Craigen WJ, Graham BHJournal of bioenergetics and biomembranesGenetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions. J Bioenerg Biomembr. 2008 Jun; 40(3):207-12.J Bioenerg Biomembr2008-06-01T00:00:002008Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions.19188198Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJJournal of medical geneticsInfantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009 May; 46(5):308-14.J Med Genet2009-02-02T00:00:002009Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.2215213Craigen WJ, Lee CC, Caskey CTMolecular microbiologyRecent advances in peptide chain termination. Mol Microbiol. 1990 Jun; 4(6):861-5.Mol Microbiol1990-06-01T00:00:001990Recent advances in peptide chain termination.20101692El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJAmerican journal of medical genetics. Part AOEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010 Feb; 152A(2):504-11.Am J Med Genet A2010-02-01T00:00:002010OEIS complex associated with chromosome 1p36 deletion: a case report and review.20110367Graham BH, Li Z, Alesii EP, Versteken P, Lee C, Wang J, Craigen WJThe Journal of biological chemistryNeurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. J Biol Chem. 2010 Apr 09; 285(15):11143-53.J Biol Chem2010-01-28T00:00:002010Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease.21856731Akman HO, Sheiko T, Tay SK, Finegold MJ, Dimauro S, Craigen WJHuman molecular geneticsGeneration of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Hum Mol Genet. 2011 Nov 15; 20(22):4430-9.Hum Mol Genet2011-08-19T00:00:002011Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.22305237Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJHuman pathologyDiffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun; 43(6):943-51.Hum Pathol2012-02-02T00:00:002012Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.Authorship 87970936Authorship 88164811Authorship 88200410Authorship 88258618Authorship 884527729155871Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LCPloS oneCorrection: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes. 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Genet Med. 2018 10; 20(10):1175-1185.Genet Med2018-02-22T00:00:002018Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.29694881Nemani N, Carvalho E, Tomar D, Dong Z, Ketschek A, Breves SL, Ja?a F, Worth AM, Heffler J, Palaniappan P, Tripathi A, Subbiah R, Riitano MF, Seelam A, Manfred T, Itoh K, Meng S, Sesaki H, Craigen WJ, Rajan S, Shanmughapriya S, Caplan J, Prosser BL, Gill DL, Stathopulos PB, Gallo G, Chan DC, Mishra P, Madesh MCell reportsMIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress. Cell Rep. 2018 04 24; 23(4):1005-1019.Cell Rep2018-04-24T00:00:002018MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress.23463613Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJHuman mutationTransition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93.Hum Mutat2013-04-02T00:00:002013Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.true1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessorAuthorship 1051862D018272Chemicals & Drugs31500.964974PorinsD028361Disorders671370.85248Mitochondrial DiseasesAuthorship 10632719D008928AnatomyPhysiology56912800.585158MitochondriaD050995Chemicals & Drugs8240.982562Voltage-Dependent Anion Channel 1D050994Chemicals & Drugs7300.987256Voltage-Dependent Anion ChannelsAuthorship 93091611Authorship 9318778Authorship 9360659Authorship 93606722Authorship 938462730181607Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JSGenetics in medicine : official journal of the American College of Medical GeneticsDevelopment of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2019 04; 21(4):987-993.Genet Med2018-09-05T00:00:002018Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.30311389Rivera-Mu?oz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JSHuman mutationClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018 11; 39(11):1614-1622.Hum Mutat2018-11-01T00:00:002018ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.30311390Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R, ClinGen Inborn Errors of Metabolism Working GroupHuman mutationUnique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018 11; 39(11):1569-1580.Hum Mutat2018-11-01T00:00:002018Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.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.30503518Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HHAmerican journal of human geneticsPathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037.Am J Hum Genet2018-11-29T00:00:002018Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.2012-05-31NIHCRAIGEN, WILLIAM JAMES2010-02-01A novel recessive genetic screen for mitochondrial phenotypes in mammalian cellsR21HL0842392006-12-31NIHCRAIGEN, WILLIAM JAMES2005-01-01Transcriptional profiling in childhood diseasesR03HD0484582003-04-30NIHCRAIGEN, WILLIAM JAMES1997-05-01GENETIC APPROACHES TO MITOCHONDRIAL VDAC FUNCTIONR01GM0557132012-07-31NIHCRAIGEN, WILLIAM JAMES2001-07-01The Role of Mitochondrial VDACs in ApoptosisR01NS0423192010-06-30NIHCRAIGEN, WILLIAM JAMES2008-07-01The role of creatine in health and diseaseR21HD0569972009-07-31NIHCRAIGEN, WILLIAM JAMES2007-08-01The mitochondrial permeability transition and heart failureR21HL088352Principal InvestigatorPrincipal InvestigatorPrincipal InvestigatorPrincipal InvestigatorPrincipal InvestigatorPrincipal InvestigatorDepartment of MedicineDepartment of PediatricsDepartment of Molecular & Human GeneticsMedicine-Athero & LipoproteinsMolecular & Human GeneticsPediatrics-AdministrationBaylor College of MedicineBENJAMINARENKIELBENJAMIN ARENKIEL29.70508570000000-95.401808700000001776ARENKIEL, BENJAMINProfessorKIMWORLEYKIM WORLEY29.70508570000000-95.401808700000003243WORLEY, KIMProfessorJOHNBELMONTJOHN BELMONT29.70688000000000-95.401864000000002259BELMONT, JOHNAdjunct ProfessorERICBOERWINKLEERIC BOERWINKLE0.000000000000000.000000000000002653BOERWINKLE, ERICAdjunct Professor111groups3.15040.00342697806research areas1.548980.0098543592coauthor of109.87813.769260similar to11187selected publicationsJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorHUGOBELLENHUGO BELLEN29.71010310000000-95.397396100000003292BELLEN, HUGODistinguished Service ProfessorFERNANDOSCAGLIAFERNANDO SCAGLIA29.70508570000000-95.401808700000003584SCAGLIA, FERNANDOProfessorNEILHANCHARDNEIL HANCHARD29.70508570000000-95.401808700000003926HANCHARD, NEILVisiting Associate ProfessorPENELOPEBONNENPENELOPE BONNEN0.000000000000000.0000000000000043BONNEN, PENELOPEAssociate ProfessorDARYLSCOTTDARYL SCOTT29.70508570000000-95.40180870000000598SCOTT, DARYLProfessorRICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service ProfessorVERNONSUTTONVERNON SUTTON29.70508570000000-95.401808700000003508SUTTON, VERNONProfessorSEEMALALANISEEMA LALANI29.71306600000000-95.39705500000000391LALANI, SEEMAProfessorAuthorship 1269339Authorship 1277321Authorship 1277353Authorship 1277701823932787Chanprasert S, Wang J, Weng SW, Enns GM, Bou? DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJMolecular genetics and metabolismMolecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61.Mol Genet Metab2013-07-17T00:00:002013Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.23947751Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PEBMC medical geneticsExome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.BMC Med Genet2013-08-16T00:00:002013Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.23948905Manczak M, Sheiko T, Craigen WJ, Reddy PHJournal of Alzheimer's disease : JADReduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies. J Alzheimers Dis. 2013; 37(4):679-90.J Alzheimers Dis2013-01-01T00:00:002013Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies.23993193Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RWAmerican journal of human geneticsMutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 05; 93(3):471-81.Am J Hum Genet2013-08-29T00:00:002013Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.Authorship 1108343Authorship 9544082731447100Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, ?unap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia MAmerican journal of human geneticsAberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 09 05; 105(3):493-508.Am J Hum Genet2019-08-22T00:00:002019Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.Dr. Shaulsky's GroupMemberAuthorship 1113816true1ProfessorProfessorAuthorship 9614661031757659Pillai 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.Authorship 9761751131965079Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJGenetics in medicine : official journal of the American College of Medical GeneticsInterpretation of mitochondrial tRNA variants. Genet Med. 2020 05; 22(5):917-926.Genet Med2020-01-22T00:00:002020Interpretation of mitochondrial tRNA variants.LINDSAYBURRAGELINDSAY BURRAGE0.000000000000000.000000000000006108BURRAGE, LINDSAYAssociate ProfessorAuthorship 1099045Authorship 978194832082103Kennedy 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.Authorship 9794868Authorship 9797851132132679Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJGenetics in medicine : official journal of the American College of Medical GeneticsCorrection: Interpretation of mitochondrial tRNA variants. Genet Med. 2020 May; 22(5):979.Genet Med2020-05-01T00:00:002020Correction: Interpretation of mitochondrial tRNA variants.32194829Fabbri L, Dufies M, Lacas-Gervais S, Gardie B, Gad-Lapiteau S, Parola J, Nottet N, Meyenberg Cunha de Padua M, Contenti J, Borchiellini D, Ferrero JM, Leclercq NR, Ambrosetti D, Mograbi B, Richard S, Viotti J, Chamorey E, Sadaghianloo N, Rouleau M, Craigen WJ, Mari B, Clavel S, Pag?s G, Pouyss?gur J, Bost F, Mazure NMTheranosticsIdentification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-?C in clear cell Renal Cell Carcinoma patients. Theranostics. 2020; 10(6):2696-2713.Theranostics2020-02-03T00:00:002020Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-?C in clear cell Renal Cell Carcinoma patients.true1Adjunct ProfessorAdjunct ProfessorAuthorship 9867501132269312Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJGenetics in medicine : official journal of the American College of Medical GeneticsCorrection: Interpretation of mitochondrial tRNA variants. Genet Med. 2020 Jun; 22(6):1130.Genet Med2020-06-01T00:00:002020Correction: Interpretation of mitochondrial tRNA variants.Authorship 987372332290153Nowak G, Megyesi J, Craigen WJBiomoleculesDeletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury. Biomolecules. 2020 04 10; 10(4).Biomolecules2020-04-10T00:00:002020Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury.Authorship 9896231132418988Wong LC, Chen T, Schmitt ES, Wang J, Zhang S, Landsverk M, Li F, Tang S, Wang Y, Zhang VW, Craigen WJGenetics in medicine : official journal of the American College of Medical GeneticsResponse to Bai et al. Genet Med. 2020 08; 22(8):1420-1421.Genet Med2020-05-18T00:00:002020Response to Bai et al.Authorship 1116701Authorship 1168374Authorship 9942131132652755Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJHuman mutationClinical and laboratory interpretation of mitochondrial mRNA variants. Hum Mutat. 2020 10; 41(10):1783-1796.Hum Mutat2020-07-22T00:00:002020Clinical and laboratory interpretation of mitochondrial mRNA variants.Authorship 9949761032693025Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Undiagnosed Diseases Network, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola JAmerican journal of human geneticsDe Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.Am J Hum Genet2020-07-20T00:00:002020De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.true1ProfessorProfessorAuthorship 1172424http://flypush.imgen.bcm.tmc.eduBellen Lab Websitehttp://arenkiel-lab.orgArenkiel Lab WebsiteAuthorship 10007431433001864Murdock 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 1179314Authorship 1125824Authorship 1005698333238609Meyenberg Cunha-de Padua M, Fabbri L, Dufies M, Lacas-Gervais S, Contenti J, Voyton C, Fazio S, Irondelle M, Mograbi B, Rouleau M, Sadaghianloo N, Rovini A, Brenner C, Craigen WJ, Bourgeais J, Herault O, Bost F, Mazure NMCancersEvidences of a Direct Relationship between Cellular Fuel Supply and Ciliogenesis Regulated by Hypoxic VDAC1-?C. Cancers (Basel). 2020 Nov 23; 12(11).Cancers (Basel)2020-11-23T00:00:002020Evidences of a Direct Relationship between Cellular Fuel Supply and Ciliogenesis Regulated by Hypoxic VDAC1-?C.Authorship 1009918933495531Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, Ficicioglu C, Tanpaiboon P, Craigen WJ, Rosenberg AS, Kishnani PSGenetics in medicine : official journal of the American College of Medical GeneticsTransforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med. 2021 05; 23(5):845-855.Genet Med2021-01-25T00:00:002021Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.Authorship 1143579Authorship 1212981Authorship 1166561Authorship 115006Authorship 10177121833949769Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LCAmerican journal of medical genetics. Part AA novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.Am J Med Genet A2021-05-05T00:00:002021A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.true1Adjunct ProfessorAdjunct Professor24271779Donti TR, Stromberger C, Ge M, Eldin KW, Craigen WJ, Graham BHDisease models & mechanismsScreen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion. Dis Model Mech. 2014 Feb; 7(2):271-80.Dis Model Mech2013-11-21T00:00:002013Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.Authorship 1158841Authorship 1026343534317553Rawal AS, VanCleave T, Yedlapati N, Saffitz JE, Craigen WJ, Jefferies JLJACC. Case reportsArrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes. JACC Case Rep. 2021 Mar; 3(3):438-442.JACC Case Rep2021-03-17T00:00:002021Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes.true1Distinguished Service ProfessorDistinguished Service Professortrue1Distinguished Service ProfessorDistinguished Service ProfessorAuthorship 1034287834788807Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YHHuman molecular geneticsMutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Hum Mol Genet. 2022 05 04; 31(9):1430-1442.Hum Mol Genet2022-05-04T00:00:002022Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.Authorship 140847Authorship 10373191535027293Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, D?murger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Str?mme P, Thulin PC, Sadikovic B, Genevieve DGenetics in medicine : official journal of the American College of Medical GeneticsDNA methylation episignature in Gabriele-de Vries?syndrome. Genet Med. 2022 04; 24(4):905-914.Genet Med2022-01-10T00:00:002022DNA methylation episignature in Gabriele-de Vries?syndrome.Authorship 1182209true1Associate ProfessorAssociate Professortrue1ProfessorProfessortrue1ProfessorProfessor2ProfessorProfessortrue1Associate ProfessorAssociate Professortrue1ProfessorProfessorAuthorship 16176Authorship 10653281036905087Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HTAmerican journal of medical genetics. Part APAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625.Am J Med Genet A2023-03-10T00:00:002023PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.Authorship 12343Authorship 1073415337245377Ladha FA, Le Mons C, Craigen WJ, Magoulas PL, Marom R, Lewis AMMolecular genetics and metabolismBarriers to a successful healthcare transition for individuals with urea cycle disorders. Mol Genet Metab. 2023 07; 139(3):107609.Mol Genet Metab2023-05-15T00:00:002023Barriers to a successful healthcare transition for individuals with urea cycle disorders.Authorship 10799991137743782Ward 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.true1Visiting Associate ProfessorVisiting Associate ProfessorAuthorship 1529714Authorship 215343Authorship 195996Authorship 206607Authorship 319305Authorship 2563414Authorship 33094Authorship 334543Authorship 347433Authorship 244332Authorship 2675610Authorship 269314Authorship 38207Authorship 382507Authorship 400424Authorship 406113Authorship 1394995Authorship 299133Authorship 449923Authorship 4580616Authorship 1409232Authorship 141873424002165Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JLEuropean journal of human genetics : EJHGNovel cardiovascular findings in association with a POMT2 mutation: three siblings with a-dystroglycanopathy. Eur J Hum Genet. 2014 Apr; 22(4):486-91.Eur J Hum Genet2013-09-04T00:00:002013Novel cardiovascular findings in association with a POMT2 mutation: three siblings with a-dystroglycanopathy.24412347El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia FThe international journal of biochemistry & cell biologyMitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014 Mar; 48:85-91.Int J Biochem Cell Biol2014-01-08T00:00:002014Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.Authorship 338618Authorship 3405611Authorship 359825Authorship 509865Authorship 525014Authorship 545461Authorship 395613Authorship 390544Authorship 5742119Authorship 402162Authorship 5946310Authorship 42192Authorship 656635Authorship 65811Authorship 662513Authorship 685018Authorship 504805Authorship 517792Authorship 537695Authorship 751695Authorship 776183Authorship 779534Authorship 552135Authorship 55956Authorship 8353310Authorship 598954Authorship 85942Authorship 860871Authorship 876037Authorship 887775Authorship 891268Authorship 653831Authorship 96864Authorship 705022Authorship 723756Authorship 745623Authorship 1536982225439098Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia FAmerican journal of human geneticsMutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.Am J Hum Genet2014-10-16T00:00:002014Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.Authorship 794693Authorship 1552304Authorship 15626821