JIMMYHOLDER JRJIMMY HOLDER JR29.70508570000000-95.401808700000004428HOLDER JR, JIMMYNeurodevelopmental and neuropsychiatric disorders have strong genetic components. Yet we are still in infancy of our understanding of these genetic determinants and how they cause neurological disorders. Many of the genes responsible for neurodevelopmental and neuropsychiatric disease encode synaptic proteins that are critical for neuronal communication. Taking both clinical and basic science approaches, I aim to investigate how genetic and genomic abnormalities cause neuronal dysfunction in human neurological disease.Associate Professorprns:awardConferredByaward conferred byprns: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 publicationAuthorshipvivo:awardOrHonorawards and honorsAward or Honor ReceiptDepartmentDivisionGrantvivo:hasResearchArearesearch areasvivo:hasResearcherRoleresearch activitiesvivo:hrJobTitleHR job titleInformation Resourcevivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:overviewoverviewvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idrdf: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.Authorship 1584324Authorship 73421Authorship 304604126138022Holder JL, Cheung SWAmerican journal of medical genetics. Part ARefinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2737-41.Am J Med Genet A2015-07-02T00:00:002015Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.74Professor10Assistant Professor54Instructor14Associate Professor46Distinguished Emeritus Professor78Professor Emeritus47Distinguished Service ProfessorAuthorship 31663559Authorship 3166363Authorship 3166371Child Neurology Society20172015Philip R. Dodge Young Investigator AwardBaylor College of Medicine20162014Pediatrics Pilot AwardBaylor College of Medicine20162015Junior Faculty Seed Award27281533Balestrini S, Milh M, Castiglioni C, L?thy K, Finelli MJ, Verstreken P, Cardon A, Stra?i?ar BG, Holder JL, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, F?lix TM, Giuliano F, Hori M, H?ning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SMNeurologyTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology. 2016 07 05; 87(1):77-85.Neurology2016-06-08T00:00:002016TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.27123481Cardon M, Evankovich KD, Holder JLNeurology. GeneticsExonic deletion of SLC9A9 in autism with epilepsy. Neurol Genet. 2016 Apr; 2(2):e62.Neurol Genet2016-02-25T00:00:002016Exonic deletion of SLC9A9 in autism with epilepsy.8981402Holder JL, Habbak RA, Pearlson GD, Aylward EA, Pulsifer M, Warren ACNeuroreportReduced survival of apolipoprotein E4 homozygotes in Down's syndrome? Neuroreport. 1996 Nov 04; 7(15-17):2455-6.Neuroreport1996-11-04T00:00:001996Reduced survival of apolipoprotein E4 homozygotes in Down's syndrome?Authorship 323773127554343Holder JL, Quach MMEpilepsiaThe spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. Epilepsia. 2016 Oct; 57(10):1651-1659.Epilepsia2016-08-24T00:00:002016The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.19679812He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YHScience (New York, N.Y.)The transcriptional repressor DEC2 regulates sleep length in mammals. Science. 2009 Aug 14; 325(5942):866-70.Science2009-08-14T00:00:002009The transcriptional repressor DEC2 regulates sleep length in mammals.6701 FANNINHouston, 77030TX22488736Holder JL, Lotze TE, Bacino C, Cheung SWAmerican journal of medical genetics. Part AA child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1962-6.Am J Med Genet A2012-04-09T00:00:002012A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.10587584Holder JL, Butte NF, Zinn ARHuman molecular geneticsProfound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet. 2000 Jan 01; 9(1):101-8.Hum Mol Genet2000-01-01T00:00:002000Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.Authorship 87774013Authorship 8777413Authorship 87774213Authorship 87774321967409Holder JL, Wilfong AAExpert opinion on pharmacotherapyZonisamide in the treatment of epilepsy. Expert Opin Pharmacother. 2011 Nov; 12(16):2573-81.Expert Opin Pharmacother2011-10-04T00:00:002011Zonisamide in the treatment of epilepsy.29423971Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL, Bi WAmerican journal of medical genetics. Part ATwo de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. Am J Med Genet A. 2018 04; 176(4):973-979.Am J Med Genet A2018-02-09T00:00:002018Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.29061681Lyons-Warren AM, Cheung SW, Holder JLNeurologyClinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. Neurology. 2017 10 24; 89(17):e205-e209.Neurology2017-10-24T00:00:002017Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.29474920Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL, Zoghbi HYCellA Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.Cell2018-02-22T00:00:002018A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.29402231Weldon M, Kilinc M, Lloyd Holder J, Rumbaugh GJournal of neurodevelopmental disordersThe first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators. J Neurodev Disord. 2018 02 05; 10(1):6.J Neurodev Disord2018-02-05T00:00:002018The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.ERICSTORCHERIC STORCH13665STORCH, ERICProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1Assistant ProfessorAssistant Professortrue1Distinguished Service ProfessorDistinguished Service Professortrue1Assistant ProfessorAssistant ProfessorD008607Disorders24810220.567045Intellectual DisabilityAuthorship 8903222Authorship 890323529808250Xing Y, Holder JL, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun LArchives of gynecology and obstetricsPrenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018 08; 298(2):289-295.Arch Gynecol Obstet2018-05-28T00:00:002018Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.29719671De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL, Betancur C, Buxbaum JD, Kolevzon AMolecular autismDelineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018; 9:31.Mol Autism2018-04-27T00:00:002018Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.D020703Chemicals & Drugs23300.97664ras GTPase-Activating ProteinsD004827Disorders2568730.550536EpilepsyAuthorship 9359373Authorship 940376730696942Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL, Zoghbi HYMolecular psychiatryA kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2020 10; 25(10):2504-2516.Mol Psychiatry2019-01-29T00:00:002019A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.30610205Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL, Zoghbi HYMolecular psychiatryAn autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555.Mol Psychiatry2019-01-04T00:00:002019An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.Authorship 1049341Department of NeurologyDepartment of PediatricsDepartment of Molecular & Human GeneticsDepartment of Psychiatry & Behavioral SciencesPsychiatry & Behavioral SciencesMolecular & Human GeneticsNeurologyPediatrics-NeurologyBaylor College of MedicineDANIELGLAZEDANIEL GLAZE29.70508570000000-95.401808700000002349GLAZE, DANIELDistinguished Emeritus ProfessorMICHELLEHOLICKMICHELLE HOLICK29.70508570000000-95.401808700000003855HOLICK, MICHELLEAssistant Professor1.725880.00803943218research areas1.500040.031359942coauthor of56.76137.138960similar to1140selected publicationsMARVINFISHMANMARVIN FISHMAN29.70508570000000-95.401808700000002815FISHMAN, MARVINProfessor EmeritusHUDAZOGHBIHUDA ZOGHBI29.71010310000000-95.397396100000002830ZOGHBI, HUDADistinguished Service ProfessorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorGARYCLARKGARY CLARK29.70508570000000-95.401808700000003440CLARK, GARYProfessorBERNHARDSUTERBERNHARD SUTER29.70508570000000-95.401808700000003873SUTER, BERNHARDAssociate ProfessorSAU WAICHEUNGSAU WAI CHEUNG29.69822590000000-95.35731940000000499CHEUNG, SAU WAIProfessorMICHAELQUACHMICHAEL QUACH0.000000000000000.000000000000001578QUACH, MICHAELAssistant Professor30819258Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu PGenome medicineDe novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.Genome Med2019-02-28T00:00:002019De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.JEFFREYNOEBELSJEFFREY NOEBELS0.000000000000000.000000000000003151NOEBELS, JEFFREYProfessorIMADJARJOURIMAD JARJOUR29.70508570000000-95.40180870000000930JARJOUR, IMADProfessorAuthorship 946480331025938Creson TK, Rojas C, Hwaun E, Vaissiere T, Kilinc M, Jimenez-Gomez A, Holder JL, Tang J, Colgin LL, Miller CA, Rumbaugh GeLifeRe-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior. Elife. 2019 04 26; 8.Elife2019-04-26T00:00:002019Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.D0000678771553680.668308Autism Spectrum DisorderD058256Physiology33500.928519Brain WavesAuthorship 9481499Authorship 9481511130455457Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL, Miller CA, Rumbaugh GNature neuroscienceSYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits. Nat Neurosci. 2018 12; 21(12):1-13.Nat Neurosci2018-11-21T00:00:002018SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.true1ProfessorProfessor31395010Jimenez-Gomez A, Niu S, Andujar-Perez F, McQuade EA, Balasa A, Huss D, Coorg R, Quach M, Vinson S, Risen S, Holder JLJournal of neurodevelopmental disordersPhenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression. J Neurodev Disord. 2019 08 08; 11(1):18.J Neurodev Disord2019-08-08T00:00:002019Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.true1ProfessorProfessortrue1InstructorInstructorARIELLYONS-WARRENARIEL LYONS-WARREN14697LYONS-WARREN, ARIELInstructor31825160Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Tartaglia M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner NAmerican journal of medical genetics. Part AThe sixth international RASopathies symposium: Precision medicine-From promise to practice. Am J Med Genet A. 2020 03; 182(3):597-606.Am J Med Genet A2019-12-11T00:00:002019The sixth international RASopathies symposium: Precision medicine-From promise to practice.31999386Scott 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.true1ProfessorProfessorAuthorship 1297841Authorship 1297851Authorship 1297862Authorship 1297872Authorship 9906522Authorship 99065322Authorship 99065419Authorship 9906551132380046Vuocolo B, Holder JLNeuronUnwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis. Neuron. 2020 05 06; 106(3):357-358.Neuron2020-05-06T00:00:002020Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis.14982752Holder JL, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn ARAmerican journal of physiology. Endocrinology and metabolismSim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab. 2004 Jul; 287(1):E105-13.Am J Physiol Endocrinol Metab2004-02-24T00:00:002004Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice.16709610Kublaoui BM, Holder JL, Tolson KP, Gemelli T, Zinn AREndocrinologySIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. Endocrinology. 2006 Oct; 147(10):4542-9.Endocrinology2006-05-18T00:00:002006SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.16728530Kublaoui BM, Holder JL, Gemelli T, Zinn ARMolecular endocrinology (Baltimore, Md.)Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons. Mol Endocrinol. 2006 Oct; 20(10):2483-92.Mol Endocrinol2006-05-25T00:00:002006Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons.32887745Llamosas N, Arora V, Vij R, Kilinc M, Bijoch L, Rojas C, Reich A, Sridharan B, Willems E, Piper DR, Scampavia L, Spicer TP, Miller CA, Holder JL, Rumbaugh GThe Journal of neuroscience : the official journal of the Society for NeuroscienceSYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons. J Neurosci. 2020 10 07; 40(41):7980-7994.J Neurosci2020-09-04T00:00:002020SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons.Authorship 101140726Authorship 101140814Co-Investigator2022-08-31NIHHOLDER, JIMMY L2020-09-30Identifying genetic modifiers of Sulfamidase protein stabilityR03NS12007833596411Radio FC, Pang K, Ciolfi A, Levy MA, Hern?ndez-Garc?a A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL, Tartaglia MAmerican journal of human geneticsSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 03 04; 108(3):502-516.Am J Hum Genet2021-02-16T00:00:002021SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Authorship 1017432433937973Bolbocean C, And?jar FN, McCormack M, Suter B, Holder JLJournal of autism and developmental disordersHealth-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers. J Autism Dev Disord. 2022 Mar; 52(3):1334-1345.J Autism Dev Disord2021-05-03T00:00:002021Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers.Authorship 115262124153177Han K, Holder JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HYNatureSHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7.Nature2013-10-23T00:00:002013SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.Co-Investigator2026-03-31NIHHOLDER, JIMMY L2021-06-01Harnessing post-translational regulation of SHANK3 as a boosting strategy for Phelan-McDermid syndromeR01NS120980Baylor College of Medicine20142013Chao Physician Scientist Award34215385Martinez LA, Lai YC, Holder JL, Anderson AENeurologic clinicsGenetics in Epilepsy. Neurol Clin. 2021 08; 39(3):743-777.Neurol Clin2021-08-01T00:00:002021Genetics in Epilepsy.Authorship 10254813Authorship 1032791734573249Smith-Hicks C, Wright D, Kenny A, Stowe RC, McCormack M, Stanfield AC, Holder JLBrain sciencesSleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome. Brain Sci. 2021 Sep 17; 11(9).Brain Sci2021-09-17T00:00:002021Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome.35203901Lyons-Warren AM, McCormack MC, Holder JLBrain sciencesSensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability. Brain Sci. 2022 Jan 20; 12(2).Brain Sci2022-01-20T00:00:002022Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability.Authorship 137405135672615Bolbocean C, Rhidenour KB, McCormack M, Suter B, Holder JLJournal of autism and developmental disordersCOVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders. J Autism Dev Disord. 2023 Mar; 53(3):1000-1016.J Autism Dev Disord2022-06-07T00:00:002022COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders.Authorship 10528545Authorship 10528555Authorship 10528565Authorship 10528573Authorship 1052858836180924Yuan B, Schulze KV, Assia Batzir N, Sinson J, Dai H, Zhu W, Bocanegra F, Fong CT, Holder J, Nguyen J, Schaaf CP, Yang Y, Bi W, Eng C, Shaw C, Lupski JR, Liu PGenome medicineSequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 09 30; 14(1):113.Genome Med2022-09-30T00:00:002022Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.36196501Bolbocean C, Rhidenour KB, McCormack M, Suter B, Holder JLAutism research : official journal of the International Society for Autism ResearchResilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships. Autism Res. 2022 12; 15(12):2381-2398.Autism Res2022-10-04T00:00:002022Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships.35814954Layne CS, Malaya CA, Young DR, Suter B, Holder JLFrontiers in human neuroscienceComparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin. Front Hum Neurosci. 2022; 16:918918.Front Hum Neurosci2022-06-22T00:00:002022Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin.true1Associate ProfessorAssociate Professortrue1Professor EmeritusProfessor Emeritustrue1Associate ProfessorAssociate Professor2Associate ProfessorAssociate Professortrue1Distinguished Emeritus ProfessorDistinguished Emeritus ProfessorAuthorship 145476124756183Holder JL, Agadi S, Reese W, Rehder C, Quach MMJAMA neurologyInfantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. JAMA Neurol. 2014 Jun; 71(6):782-4.JAMA Neurol2014-06-01T00:00:002014Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.