Gholson James Lyon MD

PubMed

• 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. 2026-02-01
• 2 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. 2025-12-01
• Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
  Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber
  Medrxiv. 2025-11-22

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

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

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
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  Seoul, Korea - 1/1/2015

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