J. Gargus

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Ion Channel Functional Candidate Genes in Multigenic Neuropsychiatric Disease

J. Gargus, J. Jay Gargus, 2006, Biological Psychiatry.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2019, Cell.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Stephan J Sanders, Alicia R. Martin, K. Roeder, 2018, Cell.

Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts.

J. Gargus, M. Estacion, H. Nguyen, 1997, Human molecular genetics.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2022, Nature Genetics.

Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia

W. Bunney, W. Bunney, K. Chandy, 2003, Molecular Psychiatry.

Calcium is permeable through a maitotoxin-activated nonselective cation channel in mouse L cells.

J. Gargus, M. Estacion, H. Nguyen, 1996, The American journal of physiology.

Channelopathy pathogenesis in autism spectrum disorders

J. Gargus, J. Gargus, G. Schmunk, 2013, Front. Genet..

Receptor, Transporter and Ion Channel Diseases

J. Gargus, 2006 .

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2021, medRxiv.

Brief clinical report: lethal multiple pterygium syndrome in an 18-week fetus with hydrops.

J. Gargus, G. Isaacson, M. Mahoney, 1984, American journal of medical genetics.

Dysregulation of Neurogenic Calcium Signaling and Autism

J. Gargus, G. Schmunk, 2013 .

Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone

J. Gargus, D. Ta, L. Vickery, 2003, Journal of Human Genetics.

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

J. Gargus, W. Nyhan, R. Koch, 2002, European Journal of Pediatrics.

Relative Carnitine Deficiency in Autism

P. Filipek, J. Gargus, J. Juranek, 2004, Journal of autism and developmental disorders.

Chromosome deletion 1q42-43.

J. Gargus, K. Blakemore, W. R. Breg, 1986, American journal of medical genetics.

Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?

G A Gutman, K. Chandy, G. Gutman, 1998, Molecular Psychiatry.

Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia

N. Craddock, M. Owen, L. Jones, 1998, Molecular Psychiatry.

Genomic organization and promoter analysis of human KCNN3 gene

J. Gargus, V. Shakkottai, H. Tomita, 2001, Journal of Human Genetics.

Nuclear Localization and Dominant-negative Suppression by a Mutant SKCa3 N-terminal Channel Fragment Identified in a Patient with Schizophrenia*

Mark J. Miller, M. Miller, K. Chandy, 2001, The Journal of Biological Chemistry.

hKCa3/KCNN3 potassium channel gene: association of longer CAG repeats with schizophrenia in Israeli Ashkenazi Jews, expression in human tissues and localization to chromosome 1q21

R. Weizman, K. Chandy, G. Gutman, 1999, Molecular Psychiatry.

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

J. Gargus, S. Eckert, A. Brassier, 2017, Orphanet Journal of Rare Diseases.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

J. Gargus, S. Cederbaum, G. Enns, 2015, Genetics in Medicine.

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data

J. Gargus, A. Brassier, V. Valayannopoulos, 2016 .

P1212 : Impact of sebelipase alfa on survival and liver function in infants with raidly progressive lysosomal acid lipase deficiency

J. Gargus, A. Quinn, V. Valayannopoulos, 2015 .

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

J. Gargus, S. Eckert, A. Brassier, 2015 .

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Jenifer Juranek, M. Spence, P. Filipek, 2003, Annals of neurology.

Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2*

K. Chandy, J. Gargus, M. Cahalan, 2001, The Journal of Biological Chemistry.

Transmission disequilibrium analysis of a triplet repeat within the hKCa3 gene using family trios with schizophrenia.

R. Murray, D. Collier, K. Chandy, 1998, Biochemical and biophysical research communications.

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21.

D. Housman, S. Antonarakis, K. Chandy, 1999, American journal of medical genetics.

A comparative study of patients’ perceptions of genetic and genomic medicine services in California and Malaysia

J. Gargus, P. Flodman, M. Thong, 2018, Journal of Community Genetics.

Title Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the e 1 α subunit gene ( PDHA 1 )

A. Hasso, J. Gargus, V. Kimonis, 2014 .

Phenotype and genotype variation in primary carnitine deficiency

J. Gargus, N. Longo, S. Korman, 2001, Genetics in Medicine.

Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1)

A. Hasso, J. Gargus, V. Kimonis, 2013, Neuropediatrics.

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

J. Gargus, C. Roe, M. Bocian, 2003, Journal of Inherited Metabolic Disease.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

A. Starr, A. Busch, Eddie Park, 2015, PLoS genetics.

Title Mutations of Human NARS 2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase , Cause Nonsyndromic Deafness and Leigh Syndrome Permalink

A. Starr, A. Busch, Eddie Park, 2015 .

An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel.

S. Grissmer, J. Gargus, H. Tomita, 2004, Molecular pharmacology.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

D. Wallace, J. Gargus, P. Calvas, 2008, Mitochondrion.

Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia.

K. Chandy, G. Gutman, J. Gargus, 1998, Genomics.

Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K Channel , SkCa 2 *

K. Chandy, J. Gargus, M. Cahalan, 2001 .

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

J. Gargus, S. Cederbaum, G. Enns, 2015, Genetics in Medicine.

Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency

J. Gargus, S. Cederbaum, G. Enns, 2014 .

The Genetics of Neuronal Channelopathies

J. Gargus, Shaochun Ma, 2007 .