Gholson James Lyon MD

PubMed

• Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.
  Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin
  American Journal of Medical Genetics. Part A. 2025-10-01
• HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.
  Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey
  Clinical Genetics. 2025-08-05
• 1 citations
  Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.
  Sietse M Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo
  American Journal of Medical Genetics. Part A. 2025-07-17

Journal Articles

• Lifetime Prevalence, Age of Risk, and Etiology of Comorbid Psychiatric Disorders in Tourette Syndrome  
  Hirschtritt ME, Lee PC, Pauls DL, Dion Y, Grados MA, Illmann C, King RA, Sandor P, McMahon WM, Lyon GJ, Cath DC, Kurlan R, Robertson MM, Osiecki L, Scharf JM, Mathews ..., JAMA Psychiatry, 1/11/2015
• SeqMule: automated pipeline for analysis of human exome/genome sequencing data  
  Guo Y, Ding X, Shen Y, Lyon GJ, Wang K, Scientific Reports, 1/1/2015
• Cut the Hype Accuracy and Standards Come First  
  Lyon GJ, Frontline Genomics Medicine, 1/1/2015
• Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline  
  Jimnez-Barron LT, O’Rawe JA, Wu Y, Yoon M, Fang H, Iossifov I, Lyon GJ, Cold Spring Harb Mol Case Stud, 1/1/2015
• Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study  
  McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Ga..., Journal of American Academy of Child & Adolescent Psychiatry, 1/1/2014
• Accurate de novo and transmitted indel detection in exome-capture data using microassembly  
  Narzisi G, O’Rawe JA, Iossifov I, Fang H, Lee YH, Wang Z, Wu Y, Lyon GJ, Wigler MH, Schatz MC, Nature Methods, 1/1/2014
• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ...  
  Brownstein C, Beggs A, Margulies D, Kohane I, and 195 other co-authors, Genome Biology, 1/1/2014
• Reducing INDEL calling errors in whole-genome and exome sequencing  
  Fang H, Wu Y, Narzisi G, O’Rawe JA, Jimenez Barron LT, Rosenbaum J, Ronemus M, Iossifov I, Schatz MC, Lyon GJ, Genome Medicine, 1/1/2014
• Open access and data sharing: Easier said than done  
  Barash CI and Lyon GJ, Applied & Translational Genomics, 1/1/2014
• "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline  
  Shi L, Li B, Huang Y, Liu T, Lyon GJ, Xu A, Wang K, BMC Med Genomics, 1/1/2014
• Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement  
  Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H, Genome Medicine, 1/1/2013
• Integrating whole genome sequencing and precision medicine in the study and clinical treatment of a severely mentally ill person  
  O’Rawe J, Fang H, Rynearson S, Robison RJ, Kiruluta ES, Higgins G, Eilbeck K, Reese MG, Lyon GJ, PeerJ, 1/1/2013
• Whole-genome sequencing in an autism multiplex family  
  Shi L, Zhang X, Golhar R, Otieno FG, He M, Hou C, Kim C, Keating B, Lyon GJ, Wang K, Hakonarson H, Molecular Autism, 1/1/2013
• Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing  
  O’Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ, Genome Medicine, 1/1/2013
• Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape  
  Lyon GJ and Segal JP, Applied & Translational Genomics, 1/1/2013
• Genome-wide association study of Tourette Syndrome  
  Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, 48 other authors, Lyon GJ, et al, Molecular Psychiatry, 1/1/2012
• Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms  
  Badner JA, Koller D, Foroud T, Edenberg H, Nurnberger JI, Jr., Zandi PP, Willour VL, McMahon FJ, Potash JB, Hamshere M, Grozeva D, Green E, Kirov G, Jones I, Jones L, ..., Molecular Psychiatry, 1/1/2012
• Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress  
  Lyon GJ and Wang K, Genome Medicine, 1/1/2012
• Editorial, There is nothing “Incidental” about Unrelated Findings  
  Lyon GJ, Personalized Medicine, 1/1/2012
• SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data  
  Wei Z, Wang W, Hu P, Lyon GJ, Hakonarson H, Nucleic Acids Research, 1/1/2011
• nterview, Personal account of the discovery of a new disease using next-generation sequencing  
  Pharmacogenomics, 1/1/2011
• Exome Sequencing and Unrelated Findings in the context of Complex Disease Research: Ethical and Clinical Implications  
  Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily P, Xing J, Tian L, Robison RJ, Clement M, Yang L, Zhang P, Liu Y, Moore B, Glessner J, Elia J, Reimherr F, van Solinge W,..., Discovery Medicine, 1/1/2011
• Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency  
  Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison..., American Journal of Human Genetics, 1/1/2011
• Tourette’s Disorder  
  Lyon GJ, Shprecher D, Coffey BJ and Kurlan R, Current Treatment Options in Neurology, 1/1/2010
• Aripiprazole in children and adolescents with Tourette’s Disorder: An open label safety and tolerability study  
  Lyon GJ, Samar S, Jummani R, Hirsch S, Spirgel A, Goldman R, Coffey BJ, Journal of Child Adolescent Psychopharmacology, 1/1/2010
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Books/Book Chapters

• Epstein’s Inborn Errors of Development 
  Chapter: X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome) 
  Lyon GJ, Bird L, Rope A2015
• The Genetics of Neurodevelopmental Disorders 
  Chapter: Human genetics and clinical aspects of neurodevelopmental disorders 
  Lyon GJ and O’Rawe JEditors: Kevin Mitchell.Wiley2015

Abstracts/Posters

• De novo and somatic indel variant analysis of whole genome and exome capture sequencing experiments with Scalpel
  H. Fang; E. Grabowska; K. Arora; V. Vacic; M. Zody; I. Iossifov; J. O’ Rawe; G. Lyon; M. Wigler; M. Schatz; G. Narzisi, an Fang at American Society of Human Genetics Annual Meeting, Baltimore, MD, 1/1/2015
• Scikit-ribo: Accurate A-site prediction and robust modeling of translation control from Riboseq and RNAseq data
  Han Fang, Max Doerfel, Yifei Huang, Gholson J. Lyon, Michael C. Schatz, Han Fang at CSHL Meeting Probabilistic Modeling in Genomics, 1/1/2015
• Large pedigrees in human sequencing studies: toward a more resolved and accurate picture of genetic disease
  Lyon GJ and O’Rawe J, CSHL In- House Symposium, Cold Spring Harbor, NY, 1/1/2015
• Comprehensive Whole Genome Sequencing Provides a Possible Etiology for a New Syndrome Characterized by Severe Intellectual Disability and Recognizable Dysmorphic Features
  Lyon GJ and Rope A, American College of Medical Genetics Meeting, Salt Lake City, UT, 1/1/2015
• New human genetic syndromes and optimized next generation sequencing leading to the discovery of new biology
  Lyon GJ, Wellcome Trust: Genomics of Rare Disease: Beyond the Exome Meeting. Wellcome Trust Genome Campus, Hinxton, UK, 1/1/2015
• Discovery and genetic characterization of new neuropsychiatric syndromes from family-based studies
  Lyon GJ, Cold Spring Harbor Laboratory: The Biology of Genomes Meeting, Cold Spring Harbor, NY, 1/1/2015
• New human genetic syndromes leading to the discovery of new biology
  Lyon GJ, Cold Spring Harbor Laboratory: 80th CSHL Symposium on Quantitative Biology – 21st Century Genetics: Genes at Work, Cold Spring Harbor, NY, 1/1/2015
• Lifetime Prevalence, Age of Risk, and Etiology of Comorbid Psychiatric Disorders in Tourette
  Posthuma D, Grados MA, Singer HS, Scharf JM, Illmann C, Yu D, Osiecki L, Pauls DL, Cox NJ, Robertson MM, Freimer NB, Budman CL, Rouleau GA, Dion Y, Chouinard S, Mo..., Tourette Syndrome Association International Consortium for Genetics, 1st World Congress on Tourette Syndrome & Tic Disorders, London, UK, 1/1/2015
• Latent class analysis of Tourette syndrome and common comorbid disorders: Clinical and genetic implications
  Posthuma D, Grados MA, Singer HS, Scharf JM, Illmann C, Yu D, Osiecki L, Pauls DL, Cox NJ, Robertson MM, Freimer NB, Budman CL, Rouleau GA, Dion Y, Chouinard S, M..., Tourette Syndrome Association International Consortium for Genetics, 1st World Congress on Tourette Syndrome & Tic Disorders, London, UK, 1/1/2015
• Autistic Symptoms in a TS Sample
  Posthuma D, Grados MA, Singer HS, Scharf JM, Illmann C, Yu D, Osiecki L, Pauls DL, Cox NJ, Robertson MM, Freimer NB, Budman CL, Rouleau GA, Dion Y, Chouinard S, M..., Tourette Syndrome Association International Consortium for Genetics, 1st World Congress on Tourette Syndrome & Tic Disorders, London, UK, 1/1/2015
• Prevalence and Predictors of Trichotillomania and Excoriation Disorder in Tourette Syndrome
  Greenberg E, Posthuma D, Grados MA, Singer HS, Scharf JM, Illmann C, Yu D, Osiecki L, Pauls DL, Cox NJ, Robertson MM, Freimer NB, Budman CL, Rouleau GA, Dion Y, Chouin..., Tourette Syndrome Association International Consortium for Genetics, 1st World Congress on Tourette Syndrome & Tic Disorders, London, UK, 1/1/2015
• Genome Wide Variant Analysis of families with Autism Spectrum Disorder (ASD) using an Integrative Bioinformatics Pipeline
  Lyon GJ and Jimenez-Barron LT, CSHL Personal Genomes Meeting, Cold Spring Harbor, NY, 1/1/2014
• Whole genome sequencing, clinical interpretation, and deep brain stimulation in a severely mentally ill person
  Lyon GJ, CSHL Neural Circuits Meeting, Cold Spring Harbor, NY, 1/1/2014
• Complexities of INDEL detection based on micro-assembly methods; WGS and WES comparisons
  Fang H, Lyon GJ, CSHL Woodbury Genomics In-House Seminar, Woodbury, NY, 1/1/2014
• Ogden Syndrome and iPSC model
  Wu Y, Lyon GJ, Brook University Genetics Seminar, Graduate Program, Stony Brook, NY, 1/1/2014
• Complexities of INDEL detection based on micro-assembly methods: WGS and WES comparisons
  Lyon GJ, Fang H, CSHL Biology of Genome Meeting, Lyon GJ, Fang H, 1/1/2014
• Variant Analysis of Simplex Autism Families
  Jimenez-Barron LT, CSHL Woodbury Genomics In-House Seminar, Woodbury, NY, 1/1/2014
• Lyon GJ and Doerfel M, CSHL Translational Control Meeting, Cold Spring Harbor, NY, 1/1/2014
• Molecular and cellular effects of the Ogden Syndrome S37P mutation on the function of the N-terminal acetyltransferase Naa10
  Lyon GJ and Doerfel M, 4th Annual Meeting of the American Society of Human Genetics (ASHG), San Diego, CA, 1/1/2014
• Whole genome analysis of an extended pedigree with Prader- Willi Syndrome, Hereditary Hemochromatosis, Familial Dysautonomia, Tourette Syndrome and other illnesses
  Lyon GJ and Fang H, CSHL Personal Genomes Meeting, Cold Spring Harbor, NY, 1/1/2014
• Reducing INDEL calling errors in whole genome and exome sequencing data
  Lyon GJ and Fang H, CSHL Personal Genomes Meeting, Cold Spring Harbor, NY, 1/1/2014
• Reducing INDEL calling errors in whole genome and exome sequencing data
  Lyon GJ and Fang H, CSHL In-House Symposium, Cold Spring Harbor, NY, 1/1/2014
• Genome Wide Variant Analysis of families with Autism Spectrum Disorder (ASD) using an Integrative Bioinformatics Pipeline
  Lyon GJ and Jimenez-Barron LT, CSHL In-House Symposium, Cold Spring Harbor, NY, 1/1/2014
• Whole Genome Sequencing Analysis of an Idiopathic Mental Retardation Syndrome
  Wang K, Lyon GJ, American College of Medical Genetics (ACMG), Phoenix, AZ, 1/1/2013
• Applications of Whole Genome Sequencing: a familial Analysis of a severe Idiopathic Intellectual Disability Syndrome
  Lyon GJ and O’Rawe J, CSHL From Base Pair to Body Plan Meeting – Celebrating 60 Years of DNA Meeting, Cold Spring Harbor, NY, 1/1/2013
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Lectures

• Optimized sequencing leading to new human genetic syndromes involving transcription, translation, and protein degradation 
  Pohang, South Korea - 1/1/2015
• TAF1 Syndrome 
  Seoul, Korea - 1/1/2015
•  
  Seoul, Korea - 1/1/2015
• Genetic Complexity and Neuropsychiatric Disorders 
  Marseille, France - 1/1/2015
• Using next generation sequencing to discover new human genetic syndromes and reveal new biology 
  Boston, MA - 1/1/2015
• Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features 
  Troina, Italy - 1/1/2015
• Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features 
  Cold Spring Harbor, NY - 1/1/2015
• Rare Human Diseases as a Window into New Biology 
  Lawrence, KS - 1/1/2015
• Variants in TAF1 are associated with a new syndrome with severe intellectual disability, neurologic issues, and dysmorphic features 
  Baltimore, MD - 1/1/2015
• Ogden Syndrome and the Amino-Terminal Acetylation of Proteins 
  Bethesda, MD - 1/17/2014
• Clinical genetics of neurodevelopmental disorders 
  New York, NY - 1/1/2014
• Deep Brain Stimulation, Psychiatric Genetics, and iPS cell models of disease 
  Cold Spring Harbor, NY - 1/1/2014
• Clinical Genomics of Neuropsychiatric Illnesses 
  Stony Brook, NY - 1/1/2014
• Amino-terminal acetylation of proteins: role in human disease and biology 
  Cold Spring Harbor, NY - 1/1/2014
• Clinical Genomics of Neuropsychiatric Illnesses 
  Dallas, TX - 1/1/2014
• Challenges for Clinical Implementation of Genomic Medicine 
  Provo, UT, 2014; New York, NY, 2014 - 1/1/2014
• Genetic Complexity and Neuropsychiatric Disorders 
  Leeds, UK - 1/1/2014
• Amino-terminal acetylation of proteins: role in human disease and biology 
  New Brunswick, NJ - 1/1/2014
• Human Genetics and Orphan Diseases 
  Cold Spring Harbor, NY - 1/1/2014
• Advancing Precision Medicine with Genome Interpretation and Deep Brain Stimulation 
  Stony Brook, NY - 1/1/2013
• Whole Genome Sequencing Analysis of a severe Idiopathic Intellectual Disability Syndrome 
  Park City, UT - 1/1/2013
• Genetic and Biochemical Analysis of Childhood-Onset Idiopathic Neuropsychiatric Disorders 
  Stony Brook, NY - 1/1/2013
• Controversies in Giving Data Back 
  La Jolla, CA - 1/1/2013
• Clinical genetics and other aspects of neuropsychiatric disorders 
  Leuven, BE - 1/1/2013
• Genomics and Ogden Syndrome 
  Bergen, NO - 1/1/2013
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Other

• Stopping 23andMe will only delay the revolution medicine needs 
  Lyon GJ
  theconversation.com
  1/1/2013
• Humanizing the Human Genome Project 
  Lyon GJ
  www.project-syndicate.org
  1/1/2012
• Guest post: Time to bring human genome sequencing into the clinic 
  Lyon GJ, GenomesUnzipped
  genomesunzipped.org
  1/1/2012
• Targeting Receptor-Histidine Kinase Signaling in Staphylococcus aureus 
  Lyon GJ, Thesis in Chemical Biology, Rockefeller University
  1/1/2002
• The Functional Characterization of SPARC and SC1 Single and Double Knockout Mice 
  Lyon GJ, Thesis in Genetics, University of Cambridge
  1/1/1997
• Isolation and Characterization of the Mouse Type III Deiodinase Gene 
  Lyon GJ, Thesis in Molecular Biology, Dartmouth College
  1/1/1996
• TAF1 
  Lyon GJ
  en.wikipedia.org
• RBCK1 
  Lyon GJ
  en.wikipedia.org
• NAA15 
  Lyon GJ and Doerfel, M
  en.wikipedia.org
• NAA10 
  Lyon GJ and Doerfel, M
  en.wikipedia.org
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