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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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Mean distance: 8.63
 
SNBCP
Cross-listing: GenetiTree

Parents

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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
 (ongoing)

Children

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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)
BETA: Related publications

Publications

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Belbachir N, Wu Y, Shen M, et al. (2023) Studying Long QT Syndrome Caused by Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells. Circulation. 148: 1598-1601
Kleyner R, Ung N, Mohammad A, et al. (2023) ITPR1-Associated Spinocerebellar Ataxia with Craniofacial Features - Additional Evidence for Germline Mosaicism. Cold Spring Harbor Molecular Case Studies
Dingemans AJM, Hinne M, Truijen KMG, et al. (2023) PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics
Kierzkowska O, Sarino K, Carter D, et al. (2023) Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome. American Journal of Medical Genetics. Part A
Lyon GJ, Vedaie M, Beisheim T, et al. (2023) Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome. European Journal of Human Genetics : Ejhg
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
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