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Author Details

Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
1972
94
41
PMIDPaper TitleJournal TitlePublished Year
37163119Evaluating possible maternal effect lethality and genetic background effects in <i>Naa10</i> knockout mice.bioRxiv2024
37964495Ocular manifestations in a cohort of 43 patients with KBG syndrome.Am J Med Genet A2024
37503210GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv2024
37821226<i>ITPR1</i>-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism.Cold Spring Harb Mol Case Stud2024
36810866Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.Am J Med Genet A2023
37956223Studying Long QT Syndrome Caused by <i>NAA10</i> Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells.Circulation2023
37550531PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nat Genet2023
37226940Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.Am J Med Genet A2023
37130971Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.Eur J Hum Genet2023
34716203Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinity.Cold Spring Harb Mol Case Stud2022
35484572SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.Genome Med2022
35970914KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.Eur J Hum Genet2022
36221186Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.Mov Disord2022
35145301GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.Nat Genet2022
34355692<i>Naa12</i> compensates for <i>Naa10</i> in mice in the amino-terminal acetylation pathway.Elife2021
33942911Is Persistent Motor or Vocal Tic Disorder a Milder Form of Tourette Syndrome?Mov Disord2021
32396742Congenital Heart Defects Due to <i>TAF1</i> Missense Variants.Circ Genom Precis Med2020
32027362Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.Hum Mol Genet2020
32500119Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR Genom Bioinform2020
32532879Early-onset cerebellar ataxia in a patient with CMT2A2.Cold Spring Harb Mol Case Stud2020
30874362Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.Am J Med Genet A2019
31646703Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.Hum Mutat2019
31387860<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.Cold Spring Harb Mol Case Stud2019
31269458From Molecular Understanding to Organismal Biology of N-Terminal Acetyltransferases.Structure2019
30818990Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.Am J Psychiatry2019
28651666Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome.Psychol Med2018
30054457NAA10-related syndrome.Exp Mol Med2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
29361467Scikit-ribo Enables Accurate Estimation and Robust Modeling of Translation Dynamics at Codon Resolution.Cell Syst2018
29656860Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.Am J Hum Genet2018
29098466Prevalence and predictors of hair pulling disorder and excoriation disorder in Tourette syndrome.Eur Child Adolesc Psychiatry2018
27809572Identification of Two Heritable Cross-Disorder Endophenotypes for Tourette Syndrome.Am J Psychiatry2017
28228131Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.BMC Med Genomics2017
28647013Autism Spectrum Symptoms in a Tourette's Disorder Sample.J Am Acad Child Adolesc Psychiatry2017
28641109Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.Neuron2017
27668839Proteomic and genomic characterization of a yeast model for Ogden syndrome.Yeast2017
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
26879370Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.BMC Musculoskelet Disord2016
27854363Indel variant analysis of short-read sequencing data with Scalpel.Nat Protoc2016
27900361KBG syndrome involving a single-nucleotide duplication in <i>ANKRD11</i>.Cold Spring Harb Mol Case Stud2016
27900360<i>SCN8A</i> mutation in a child presenting with seizures and developmental delays.Cold Spring Harb Mol Case Stud2016
27356984Long-read sequencing and de novo assembly of a Chinese genome.Nat Commun2016
27371487Social disinhibition is a heritable subphenotype of tics in Tourette syndrome.Neurology2016
25587064SeqHBase: a big data toolset for family based sequencing data analysis.J Med Genet2015
26381817SeqMule: automated pipeline for analysis of human exome/genome sequencing data.Sci Rep2015
26637982TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.Am J Hum Genet2015
27148569Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.Cold Spring Harb Mol Case Stud2015
25987439The biological functions of Naa10 - From amino-terminal acetylation to human disease.Gene2015
25671412Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome.JAMA Psychiatry2015
25489052Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.Hum Mol Genet2015
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Collaborators

Kai Wang
University of Pennsylvania
Co-authored papers 21
Jeremiah M Scharf
Co-authored papers 12
Carol A Mathews
Co-authored papers 12
Danielle C Cath
Co-authored papers 11
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 9
Dongmei Yu
Co-authored papers 8
James A Knowles
Co-authored papers 7
Tom W Muir
Princeton University
Co-authored papers 7
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 6
Markus M N??then
Institute of Human Genetics, University Hospital Bonn
Co-authored papers 5
Lea K Davis
Vanderbilt University Medical Center, Tennessee Vanderbilt Genetics Institute
Co-authored papers 5
Benjamin M Neale
Massachusetts General Hospital
Co-authored papers 5
Danielle Posthuma
Co-authored papers 5
Nelson B Freimer
Co-authored papers 5
Nancy J Cox
Vanderbilt University Medical Center
Co-authored papers 4
Harvey S Singer
Co-authored papers 4
Cecilia E Kim
Co-authored papers 4
Michele T Pato
Co-authored papers 4
Zhi Wei
Co-authored papers 4
Ronen Marmorstein
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 4
Michael C Schatz
Johns Hopkins University
Co-authored papers 4
Carlos N Pato
Co-authored papers 4
Peter Heutink
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 3
Johannes H Smit
Co-authored papers 3
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Co-authored papers 3
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 3
Jonathan P Bradfield
Co-authored papers 3
Jay A Tischfield
Co-authored papers 3
Barry Moore
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 3
Mark Yandell
University of Utah
Co-authored papers 3
Release 1.2