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Gholson James Lyon, MD PhD

Affiliations: 
Genetics Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 
Area:
biochemistry, genetics, amino-terminal acetylation, Ogden Syndrome
Website:
http://lyonlab.cshl.edu/
Google:
"Gholson Lyon"
Bio:

The Lyon laboratory focuses on analyzing human genetic variation and its role in severe neuropsychiatric disorders. We do this by studying large pedigrees living in the same geographic location, where one can study the penetrance and segregation of variants in a similar environmental background and with fewer population stratification concerns. Toward this end, we collect pedigrees in Utah and elsewhere, and then utilize exome and whole genome sequencing to find mutations that segregate with syndromes in the pedigrees. We focus on the discovery of families with rare diseases and/or increased prevalence for syndromes such as Tourette Syndrome, ADHD, obsessive compulsive disorder (OCD), mental retardation, autism and schizophrenia. Proving the biological relevance for newly discovered mutations is the major problem, so having access to research participants and derived tissues will be critically important, hence the need to engage directly with families.

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Cross-listing: Chemistry Tree

Parents

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Thomas W. Muir grad student 1999-2003 Rockefeller (Chemistry Tree)
Richard Novick grad student 1999-2003 Rockefeller (Chemistry Tree)
 (Targeting receptor -histidine kinase signaling in Staphylococcus aureus.)
Barbara Coffey post-doc 2007-2009 NYU School of Medicine (Chemistry Tree)
 (ongoing)

Children

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Margaret Yoon research assistant CSHL (Chemistry Tree)
Jonathan Crain research assistant 2015- CSHL (Chemistry Tree)
Robert Kleyner research assistant 2015- CSHL (Chemistry Tree)
Ahmed Ismail research assistant 2016- CSHL (Chemistry Tree)
Alison Sebold research assistant 2016- CSHL (Chemistry Tree)
Alexandra Solowinska research assistant 2016- CSHL (Chemistry Tree)
Syndi Barish research assistant 2014-2014 CSHL (Chemistry Tree)
Thomas Papazyan research assistant 2017-2017 CSHL (Chemistry Tree)
Laura Jimenez Barron grad student CSHL (Chemistry Tree)
Jason O'Rawe grad student 2012- CSHL (Computational Biology Tree)
Yiyang Wu grad student 2012- CSHL (Chemistry Tree)
Han Fang grad student 2013- CSHL (Chemistry Tree)
Max Doerfel post-doc CSHL

Collaborators

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Leah (Gottlieb) Quinton collaborator (Chemistry Tree)
BETA: Related publications

Publications

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Zhao M, Havrilla JM, Fang L, et al. (2020) Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases. Nar Genomics and Bioinformatics. 2: lqaa032
Cheng H, Gottlieb L, Marchi E, et al. (2020) Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics
Cheng H, Capponi S, Wakeling E, et al. (2019) Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Human Mutation
Lyon GJ, Marchi E, Ekstein J, et al. (2019) VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. Cold Spring Harbor Molecular Case Studies
Paine I, Posey JE, Grochowski CM, et al. (2019) Paralog Studies Augment Gene Discovery: DDX and DHX Genes. American Journal of Human Genetics
Cheng H, Gottlieb L, Marchi E, et al. (2019) Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics
Yu D, Sul JH, Tsetsos F, et al. (2019) Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. The American Journal of Psychiatry. 176: 217-227
Wu Y, Lyon GJ. (2018) NAA10-related syndrome. Experimental & Molecular Medicine. 50: 85
Anttila V, Bulik-Sullivan B, et al. (2018) Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360
Cheng H, Dharmadhikari AV, Varland S, et al. (2018) Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics
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