TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address6701 FANNIN
Houston, TX 77030
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    TitleAssistant Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Neurology

    Collapse Biography 
    Collapse awards and honors
    2015 - 2017Philip R. Dodge Young Investigator Award, Child Neurology Society
    2013 - 2014Chao Physician Scientist Award, Baylor College of Medicine
    2014 - 2016Pediatrics Pilot Award, Baylor College of Medicine
    2015 - 2016Junior Faculty Seed Award, Baylor College of Medicine

    Collapse Overview 
    Collapse overview
    Neurodevelopmental 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.

    Collapse Research 
    Collapse research activities and funding
    R03NS120078     (HOLDER, JIMMY L)Sep 30, 2020 - Aug 31, 2022
    Identifying genetic modifiers of Sulfamidase protein stability
    Role: Co-Investigator

    R01NS120980     (HOLDER, JIMMY L)Jun 1, 2021 - Mar 31, 2026
    Harnessing post-translational regulation of SHANK3 as a boosting strategy for Phelan-McDermid syndrome
    Role: Co-Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Martinez LA, Lai YC, Holder JL, Anderson AE. Genetics in Epilepsy. Neurol Clin. 2021 08; 39(3):743-777. PMID: 34215385.
      Citations:    Fields:    Translation:Humans
    2. Bolbocean C, Andújar FN, McCormack M, Suter B, Holder JL. Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers. J Autism Dev Disord. 2021 May 03. PMID: 33937973.
      Citations:    Fields:    
    3. Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García 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 M. SPEN 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. PMID: 33596411.
      Citations: 8     Fields:    Translation:HumansCells
    4. Llamosas 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 G. SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons. J Neurosci. 2020 10 07; 40(41):7980-7994. PMID: 32887745.
      Citations: 1     Fields:    Translation:HumansCells
    5. Vuocolo B, Holder JL. Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis. Neuron. 2020 05 06; 106(3):357-358. PMID: 32380046.
      Citations:    Fields:    Translation:Humans
    6. Scott 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 DA. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925. PMID: 31999386.
      Citations: 3     Fields:    Translation:Humans
    7. Gripp 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 N. The sixth international RASopathies symposium: Precision medicine-From promise to practice. Am J Med Genet A. 2020 03; 182(3):597-606. PMID: 31825160.
      Citations: 5     Fields:    Translation:HumansCells
    8. Jimenez-Gomez A, Niu S, Andujar-Perez F, McQuade EA, Balasa A, Huss D, Coorg R, Quach M, Vinson S, Risen S, Holder JL. Phenotypic 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. PMID: 31395010.
      Citations: 4     Fields:    Translation:Humans
    9. Creson TK, Rojas C, Hwaun E, Vaissiere T, Kilinc M, Jimenez-Gomez A, Holder JL, Tang J, Colgin LL, Miller CA, Rumbaugh G. Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior. Elife. 2019 04 26; 8. PMID: 31025938.
      Citations: 13     Fields:    Translation:HumansAnimals
    10. Vetrini 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, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De 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. PMID: 30819258.
      Citations: 7     Fields:    Translation:Humans
    11. Wang 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 HY. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2020 10; 25(10):2504-2516. PMID: 30696942.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    12. Wang 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 HY. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555. PMID: 30610205.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    13. Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL, Miller CA, Rumbaugh G. SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits. Nat Neurosci. 2018 12; 21(12):1-13. PMID: 30455457.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    14. Xing Y, Holder JL, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L. Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018 08; 298(2):289-295. PMID: 29808250.
      Citations: 2     Fields:    Translation:Humans
    15. De 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 A. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018; 9:31. PMID: 29719671.
      Citations: 32     Fields:    Translation:HumansCells
    16. Gennarino 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 HY. A 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. PMID: 29474920.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    17. Zhu 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 W. Two 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. PMID: 29423971.
      Citations: 2     Translation:Humans
    18. Weldon M, Kilinc M, Lloyd Holder J, Rumbaugh G. The 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. PMID: 29402231.
      Citations: 7     Fields:    Translation:HumansAnimals
    19. Lyons-Warren AM, Cheung SW, Holder JL. Clinical 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. PMID: 29061681.
      Citations: 1     Fields:    Translation:HumansCells
    20. Holder JL, Quach MM. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. Epilepsia. 2016 Oct; 57(10):1651-1659. PMID: 27554343.
      Citations: 15     Fields:    Translation:HumansCells
    21. Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar 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, Félix TM, Giuliano F, Hori M, Hüning 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 SM. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology. 2016 07 05; 87(1):77-85. PMID: 27281533.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    22. Cardon M, Evankovich KD, Holder JL. Exonic deletion of SLC9A9 in autism with epilepsy. Neurol Genet. 2016 Apr; 2(2):e62. PMID: 27123481.
      Citations: 4     
    23. Holder JL, Cheung SW. Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2737-41. PMID: 26138022.
      Citations: 2     Translation:HumansCells
    24. Holder JL, Agadi S, Reese W, Rehder C, Quach MM. Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. JAMA Neurol. 2014 Jun; 71(6):782-4. PMID: 24756183.
      Citations: 7     Fields:    Translation:Humans
    25. Peddibhotla 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 SW. Delineation 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. PMID: 24736736.
      Citations: 18     Fields:    Translation:HumansCells
    26. Han 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 HY. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7. PMID: 24153177.
      Citations: 138     Fields:    Translation:HumansAnimalsCells
    27. Holder JL, Lotze TE, Bacino C, Cheung SW. A 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. PMID: 22488736.
      Citations: 6     Translation:HumansCells
    28. Holder JL, Wilfong AA. Zonisamide in the treatment of epilepsy. Expert Opin Pharmacother. 2011 Nov; 12(16):2573-81. PMID: 21967409.
      Citations: 7     Fields:    Translation:HumansAnimals
    29. He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH. The transcriptional repressor DEC2 regulates sleep length in mammals. Science. 2009 Aug 14; 325(5942):866-70. PMID: 19679812.
      Citations: 111     Fields:    Translation:HumansAnimalsCells
    30. Kublaoui BM, Holder JL, Gemelli T, Zinn AR. Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons. Mol Endocrinol. 2006 Oct; 20(10):2483-92. PMID: 16728530.
      Citations: 59     Fields:    Translation:AnimalsCells
    31. Kublaoui BM, Holder JL, Tolson KP, Gemelli T, Zinn AR. SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. Endocrinology. 2006 Oct; 147(10):4542-9. PMID: 16709610.
      Citations: 40     Fields:    Translation:HumansAnimals
    32. Holder JL, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn AR. Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab. 2004 Jul; 287(1):E105-13. PMID: 14982752.
      Citations: 39     Fields:    Translation:Animals
    33. Holder JL, Butte NF, Zinn AR. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet. 2000 Jan 01; 9(1):101-8. PMID: 10587584.
      Citations: 128     Fields:    Translation:HumansCells
    34. Holder JL, Habbak RA, Pearlson GD, Aylward EA, Pulsifer M, Warren AC. Reduced survival of apolipoprotein E4 homozygotes in Down's syndrome? Neuroreport. 1996 Nov 04; 7(15-17):2455-6. PMID: 8981402.
      Citations:    Fields:    Translation:Humans
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