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Gholson James Lyon, MD PhD

Genetics Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 
biochemistry, genetics, amino-terminal acetylation, Ogden Syndrome
"Gholson Lyon"

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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Mean distance: 8.63
Cross-listing: GenetiTree


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


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Margaret Yoon research assistant CSHL
Jonathan Crain research assistant 2015- CSHL
Robert Kleyner research assistant 2015- CSHL
Ahmed Ismail research assistant 2016- CSHL
Alison Sebold research assistant 2016- CSHL
Alexandra Solowinska research assistant 2016- CSHL
Syndi Barish research assistant 2014-2014 CSHL
Thomas Papazyan research assistant 2017-2017 CSHL
Laura Jimenez Barron grad student CSHL
Jason O'Rawe grad student 2012- CSHL (Computational Biology Tree)
Yiyang Wu grad student 2012- CSHL
Han Fang grad student 2013- CSHL
Max Doerfel post-doc CSHL (GenetiTree)
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Guo L, Park J, Yi E, et al. (2022) KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients. European Journal of Human Genetics : Ejhg
Danis D, Jacobsen JOB, Balachandran P, et al. (2022) SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. Genome Medicine. 14: 44
Kleyner R, Mohammad A, Marchi E, et al. (2021) Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity. Cold Spring Harbor Molecular Case Studies
Kweon HY, Lee MN, Dorfel M, et al. (2021) compensates for in mice in the amino-terminal acetylation pathway. Elife. 10
Tsetsos F, Yu D, Sul JH, et al. (2021) Synaptic processes and immune-related pathways implicated in Tourette syndrome. Translational Psychiatry. 11: 56
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
Nellåker C, Alkuraya FS, Baynam G, et al. (2019) Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Frontiers in Genetics. 10: 611
Paine I, Posey JE, Grochowski CM, et al. (2019) Paralog Studies Augment Gene Discovery: DDX and DHX Genes. American Journal of Human Genetics
Hsieh TC, Mensah MA, Pantel JT, et al. (2019) PEDIA: prioritization of exome data by image analysis. Genetics in Medicine : Official Journal of the American College of Medical Genetics
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