JohnJayGargusMDMD-PhD

Medical Genetics • Irvine, CA

Clinical Genetics

Director, UCI Center for Autism Research and Treatment. also, Inborn Errors of Metabolism Clinic

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Office
2056 Hewitt Hall, Univefrsity of California, Irvine School of Me
Irvine, CA 92697
Phone+1 949-824-7702

Fax+1 949-824-1762
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Education & Training

Yale-New Haven Medical CenterResidency, Pediatrics, 1980 - 1982
Yale School of MedicineClass of 1979

Certifications & Licensure

CA State Medical License 1993 - 2025
GA State Medical License 1984 - 1993
American Board of Medical Genetics and Genomics Clinical Genetics

Awards, Honors, & Recognition

Top Doctors:LA Area Castle Connolly, 2013
Top Doctors:San Diego Area Castle Connolly, 2013
Top Doctors:Southern California Castle Connolly, 2012

Publications & Presentations

PubMed

4 citations
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.
Grant Bonesteele, J. Jay Gargus, Emily Curtin, Mabel Tang, Barry E. Rosenbloom, Virginia Kimonis> ;Molecular Genetics and Metabolism Reports. 2020 Dec 1
1059 citations
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Cell. 2020 Feb 6
34 citations
Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways
Rachel Nguyen, Yuliya V. Medvedeva, Tejasvi E. Ayyagari, Galina Schmunk, J. Jay Gargus> ;Biochimica Et Biophysica Acta. Molecular Cell Research. 2018 Nov 1
49 citations
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Simon Jones, Sandra Rojas-Caro, Anthony G. Quinn, Mark Friedman, Sachin Marulkar, Fatih Süheyl Ezgü, Osama K. Zaki, J. Jay Gargus, Joanne Hughes, Dominique Plantaz, Ro...> ;Orphanet Journal of Rare Diseases. 2017 Feb 8
27 citations
High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.
Galina Schmunk, Rachel Nguyen, David Ferguson, Kenny Kumar, Ian Parker, J. Jay Gargus> ;Scientific Reports. 2017 Feb 1
53 citations
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Simon Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin G. Bialer, Stephen D. Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Ro...> ;Genetics in Medicine. 2016 May 1
26 citations
Shared functional defect in IP₃R-mediated calcium signaling in diverse monogenic autism syndromes.
Galina Schmunk, Bryan Boubion, Ian F. Smith, Ian Parker, J. Jay Gargus> ;Translational Psychiatry. 2015 Sep 22
86 citations
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Mariella Simon, Elodie Richard, Xinjian Wang, Mohsin Shahzad, Vincent Huang, Tanveer A. Qaiser, Prasanth Potluri, Sarah E. Mahl, Antonio Davila, Sabiha Nazli, Saege Ha...> ;Plos Genetics. 2015 Mar 25
45 citations
Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development
Xiaoning Chen, Ran Ye, J. Jay Gargus, Randy D. Blakely, Kostantin Dobrenis, Ji Ying Sze> ;Cell Reports. 2015 Jan 20
38 citations
The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death
Andreas Brodehl, Mareike Dieding, Baerbel Klauke, Eric Dec, Shrestha Madaan, Taosheng Huang, J. Jay Gargus, Azra Fatima, Tomo Saric, Hamdin Cakar, Volker Walhorn, Katj...> ;Circulation. Cardiovascular Genetics. 2013 Dec 1
69 citations
Channelopathy pathogenesis in autism spectrum disorders.
Galina Schmunk, J. Jay Gargus> ;Frontiers in Genetics. 2013 Nov 5
18 citations
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).
Jon G. Steller, J. Jay Gargus, LH Gibbs, Anton N. Hasso, Virginia Kimonis> ;Neuropediatrics. 2013 Apr 9
39 citations
Mitochondrial and Ion Channel Gene Alterations in Autism
Moyra Smith, Pamela Flodman, J. Jay Gargus, Mariella Simon, Kimberley Verrell, Richard H. Haas, Gail E. Reiner, Robert K. Naviaux, Katherine Osann, M. Anne Spence, Dou...> ;Biochimica Et Biophysica Acta. 2012 Apr 17
80 citations
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.
J. Jay Gargus> ;Annals of the New York Academy of Sciences. 2009 Jan 1
15 citations
Why migraines strike.
David W. Dodick, J. Jay Gargus> ;Scientific American. 2008 Aug 1
18 citations
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy
Sylvie Bannwarth, Vincent Procaccio, C. Rouzier, K. Fragaki, Jason C. Poole, Brigitte Chabrol, Claude Desnuelle, Jean Pouget, Jean-Philippe Azulay, Shahram Attarian, J...> ;Mitochondrion. 2008 Mar 1
41 citations
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
J. Jay Gargus, Anne Tournay> ;Pediatric Neurology. 2007 Dec 1
74 citations
Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses
Bin Liang, Mustapha Moussaif, Chih Jen Kuan, J. Jay Gargus, Ji Ying Sze> ;Cell Metabolism. 2006 Dec 1
3 citations
[ATP1A2: a key player in familial hemiplegic migraine].
Rhoda Blostein, Laura Segall, J. Jay Gargus> ;Medecine Sciences. 2006 Apr 1
66 citations
Ion Channel Functional Candidate Genes in Multigenic Neuropsychiatric Disease
J. Jay Gargus> ;Biological Psychiatry. 2006 Jul 15
57 citations
Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2
Laura Segall, Alessandra Mezzetti, Rosemarie Scanzano, J. Jay Gargus, Enrico O. Purisima, Rhoda Blostein> ;Proceedings of the National Academy of Sciences of the United States of America. 2005 Aug 2
47 citations
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2
Mari A. Kaunisto, Hanna Harno, K R J Vanmolkot, J. Jay Gargus, G. Sun, Eija Hämäläinen, E. Liukkonen, Mikko Kallela, A.M.J.M. van den Maagdenberg, Rune R. Frants, Mark...> ;Neurogenetics. 2004 May 7
29 citations
SK3-1C, a Dominant-negative Suppressor of SKCa and IKCa Channels
Aaron Kolski-Andreaco, Hiroaki Tomita, Vikram G. Shakkottai, George A. Gutman, Michael D. Cahalan, J. Jay Gargus, K. George Chandy> ;The Journal of Biological Chemistry. 2004 Feb 20
20 citations
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
G. Sun, J. Jay Gargus, Dennis T. Ta, Larry E. Vickery> ;Journal of Human Genetics. 2003 Aug 19
40 citations
Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease
J. Jay Gargus> ;American Journal of Human Genetics. 2003 Apr 1
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Hospital Affiliations

Children’s Health Orange County (CHOC)Orange, California
UCI HealthOrange, California
Miller Children's & Women's Hospital Long BeachLong Beach, California