Last Name


TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address6621 FANNIN, CC1250
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    Collapse awards and honors
    2015 - 2017Philip R. Dodge Young Investigator Award, Child Neurology Society
    2014 - 2016Pediatrics Pilot Award, Baylor College of Medicine
    2015 - 2016Junior Faculty Seed Award, Baylor College of Medicine
    2013 - 2014Chao Physician Scientist 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.

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    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.
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    1. Holder JL, Quach MM. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. Epilepsia. 2016 Aug 24. PMID: 27554343.
      View in: PubMed
    2. 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 Jun 8. PMID: 27281533.
      View in: PubMed
    3. Cardon M, Evankovich KD, Holder JL. Exonic deletion of SLC9A9 in autism with epilepsy. Neurol Genet. 2016 Apr; 2(2):e62. PMID: 27123481; PMCID: PMC4830193.
    4. 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.
      View in: PubMed
    5. 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.
      View in: PubMed
    6. 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; PMCID: PMC4266737.
    7. 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 7; 503(7474):72-7. PMID: 24153177; PMCID: PMC3923348.
    8. 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.
      View in: PubMed
    9. Holder JL, Wilfong AA. Zonisamide in the treatment of epilepsy. Expert Opin Pharmacother. 2011 Nov; 12(16):2573-81. PMID: 21967409.
      View in: PubMed
    10. 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; PMCID: PMC2884988.
    11. 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.
      View in: PubMed
    12. 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.
      View in: PubMed
    13. 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.
      View in: PubMed
    14. Holder JL, Butte NF, Zinn AR. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet. 2000 Jan 1; 9(1):101-8. PMID: 10587584.
      View in: PubMed
    15. 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 4; 7(15-17):2455-6. PMID: 8981402.
      View in: PubMed
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