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Jay A. Tischfield

Researcher at Rutgers University

Publications -  352
Citations -  23789

Jay A. Tischfield is an academic researcher from Rutgers University. The author has contributed to research in topics: Adenine phosphoribosyltransferase & Gene. The author has an hindex of 75, co-authored 340 publications receiving 21620 citations. Previous affiliations of Jay A. Tischfield include University of Cincinnati & Indiana University – Purdue University Indianapolis.

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Stephen Sanders, +66 more
- 09 Jun 2011 - 
TL;DR: A genome-wide analysis of rare copy-number variation in 1124 autism spectrum disorder families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling, finds significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome.
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Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity : possible implications for opiate addiction

Cherie E. Bond, +12 more
- 04 Aug 1998 - 
TL;DR: Results show that SNPs in the mu opioid receptor gene can alter binding and signal transduction in the resulting receptor and may have implications for normal physiology, therapeutics, and vulnerability to develop or protection from diverse diseases including the addictive diseases.
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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, +17 more
- 07 Apr 1995 - 
TL;DR: An enzymatic rather than a structural protein defect causing a muscular dystrophy is demonstrated, a defect that may have regulatory consequences, perhaps in signal transduction.
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Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Phil Lee, +606 more
- 12 Dec 2019 - 
TL;DR: Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes.
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Genome‐wide search for genes affecting the risk for alcohol dependence

Theodore Reich, +22 more
- 08 May 1998 - 
TL;DR: There was suggestive evidence for a protective locus on chromosome 4 near the alcohol dehydrogenase genes, for which protective effects have been reported in Asian populations.