G. Lyon

发表

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

H. Hakonarson, S. South, J. Opitz, 2011, American journal of human genetics.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

Title : KBG syndrome involving a single base insertion in ANKRD 11

J. Coppinger, Kai Wang, R. Robison, 2016 .

SCN8A mutation in a child presenting with seizures and developmental delays

Gholson J. Lyon, Miriam H. Meisler, J. Coppinger, 2016, Cold Spring Harbor molecular case studies.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Kai Wang, R. Robison, G. Lyon, 2016, Cold Spring Harbor molecular case studies.

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Jeffrey D. Mandell, Michael F. Walker, Stephan J Sanders, 2017, Neuron.

Not by systems alone: identifying functional outliers in rare disease pedigrees

G. Lyon, J. Gillis, Sara Ballouz, 2017 .

Scikit-ribo Enables Accura te Estimation and Robust Modeling of Translation Dynamics at Codon Resolution Graphical

M. Schatz, A. Siepel, G. Lyon, 2018 .

Scikit-ribo: Accurate estimation and robust modeling of translation dynamics at codon resolution

M. Schatz, A. Siepel, G. Lyon, 2017, bioRxiv.

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

Kai Wang, G. Lyon, 2012, Genome Medicine.

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

H. Hakonarson, P. Hu, Zhi Wei, 2011, Nucleic acids research.

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

H. Hakonarson, W. Johnson, T. Jiang, 2013, Genome Medicine.

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

N. Reuter, J. Swensen, T. Arnesen, 2014, Human molecular genetics.

Long-read sequencing and de novo assembly of a Chinese genome

E. Eichler, John Huddleston, Valerie A. Schneider, 2016, Nature Communications.

Analysis of shared heritability in common disorders of the brain

Nick C Fox, Dan J Stein, Janice M. Fullerton, 2018, Science.

Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly

M. Schatz, Yoon-ha Lee, M. Wigler, 2014, Nature Methods.

Reducing INDEL calling errors in whole genome and exome sequencing data

M. Schatz, I. Iossifov, G. Lyon, 2014, Genome Medicine.

Indel variant analysis of short-read sequencing data with Scalpel

Ewa A. Bergmann, M. Schatz, Yoon-ha Lee, 2015, Nature Protocols.

SeqHBase: a big data toolset for family based sequencing data analysis

Peggy L Peissig, Zhan Ye, Gholson J Lyon, 2015, Journal of Medical Genetics.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

Ying Liu, Wei Wang, Mark Yandell, 2011, Discovery medicine.

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

W. Chung, Kai Wang, G. Lyon, 2019, Cold Spring Harbor molecular case studies.

Genome-wide association study of Tourette Syndrome

S. E. Stewart, A. Singleton, C. Sabatti, 2012, Molecular Psychiatry.

OF NEURODEVELOPMENTAL DISORDERS

G. Lyon, 2015 .

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person

Gerald A. Higgins, M. G. Reese, K. Eilbeck, 2013, PeerJ.

Accounting for uncertainty in DNA sequencing data.

Scott Ferson, Gholson J Lyon, S. Ferson, 2015, Trends in genetics : TIG.

Whole genome sequencing, clinical interpretation, and deep brain stimulation in a severely mentally ill person

G. Lyon, 2013 .

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

G. Highnam, D. Mittelman, A. Rope, 2015, bioRxiv.

Synaptic processes and immune-related pathways implicated in Tourette syndrome

N. Freimer, M. Nöthen, B. Leventhal, 2020, Translational Psychiatry.

Synaptic processes and immune-related pathways implicated in Tourette syndrome

N. Freimer, M. Nöthen, B. Leventhal, 2020, Translational Psychiatry.

Reducing INDEL calling errors in whole genome and exome sequencing data

M. Schatz, I. Iossifov, G. Lyon, 2014, Genome Medicine.

The biological functions of Naa10 - From amino-terminal acetylation to human disease.

G. Lyon, Max J. Dörfel, 2015, Gene.

The biological functions of Naa10 – from amino-terminal acetylation to human disease

G. Lyon, M. Doerfel, 2015, bioRxiv.

Human genetics and clinical aspects of neurodevelopmental disorders

G. Lyon, Jason O'Rawe, 2014, bioRxiv.

Not by systems alone: replicability assessment of disease expression signals

G. Lyon, J. Gillis, Sara Ballouz, 2018 .

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Julius O. B. Jacobsen, D. Smedley, C. Mungall, 2022, Genome medicine.

Genome Wide Linkage Analysis of 972 Bipolar Pedigrees Using Single Nucleotide Polymorphisms

Daniel L. Koller, G. Kirov, D. Grozeva, 2011, Molecular Psychiatry.

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity

G. Lyon, Robert Kleyner, A. Haworth, 2021, Cold Spring Harbor molecular case studies.

Comprehensive whole genome sequencing of a three generation pedigree : genetic components of a new syndrome with Severe Developmental Delay and Dysmorphic Features

G. Highnam, D. Mittelman, A. Rope, 2014 .

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline

I. Iossifov, G. Lyon, Han Fang, 2015, Cold Spring Harbor molecular case studies.

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients

Tzung-Chien Hsieh, P. Krawitz, G. Lyon, 2021, medRxiv.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Identification of Two Heritable Cross-Disorder Endophenotypes for Tourette Syndrome.

W. McMahon, Dongmei Yu, J. Scharf, 2017, The American journal of psychiatry.

"Epidemiology, epigenetics and the ‘Gloomy Prospect’: embracing randomness in population health research and practice"

G. Lyon, 2013 .

Isolation and characterization of the mouse gene for the type 3 iodothyronine deiodinase.

G. Lyon, A. Hernández, D. S. St. Germain, 1999, Endocrinology.

Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

G. Lyon, Robert Kleyner, A. Haworth, 2021, medRxiv.

Congenital Heart Defects Due to TAF1 Missense Variants.

Jill A. Madden, J. Seidman, C. Brownstein, 2020, Circulation Genomic and Precision Medicine.

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

Tzung-Chien Hsieh, P. Krawitz, Kai Wang, 2022, European Journal of Human Genetics.

Role of the tyrosine kinase pyk2 in the integrin-dependent activation of human neutrophils by TNF.

G. Lyon, C. Nathan, Maxine Melchior, 1999, The Journal of clinical investigation.

The N-Terminal Methionine of Cellular Proteins as a Degradation Signal

G. Lyon, Prashant Kota, 2014 .

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

Exfoliatin-Producing Strains Define a Fourth agr Specificity Group in Staphylococcus aureus

R. Novick, G. Lyon, J. Etienne, 2011 .

There is nothing 'incidental' about unrelated findings.

G. Lyon, 2012, Personalized medicine.

Early-onset cerebellar ataxia in a patient with CMT2A2

G. Lyon, A. Haworth, R. Madrid, 2020, Cold Spring Harbor molecular case studies.

Localization of the type 3 iodothyronine deiodinase (DIO3) gene to human chromosome 14q32 and mouse chromosome 12F1.

T. Mohandas, G. Lyon, A. Hernández, 1998, Genomics.

Expanding the Phenotypic spectrum of Ogden syndrome (NAA10-related neurodevelopmental syndrome) and NAA15-related neurodevelopmental syndrome

Quan, Kai Wang, G. Lyon, 2022, medRxiv.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

Toward fully synthetic N-linked glycoproteins.

T. Muir, G. Lyon, S. Danishefsky, 2003, Angewandte Chemie.

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

H. Hakonarson, Cecilia Kim, E. Toskala, 2013, Genome Medicine.

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

Dan J Stein, F. A. Schroeder, S. E. Stewart, 2014, Journal of the American Academy of Child and Adolescent Psychiatry.

Hydrophobic interactions drive ligand-receptor recognition for activation and inhibition of staphylococcal quorum sensing.

T. Muir, G. Lyon, R. Novick, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Genome Wide Variant Analysis of Simplex Autism Families with an Integrative Clinical-Bioinformatics Pipeline

I. Iossifov, G. Lyon, Han Fang, 2015, bioRxiv.

Human genetics and clinical aspects of neurodevelopmental disorders

Jason O'Rawe, Gholson J. Lyon, G. Lyon, 2014, bioRxiv.

Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

Michael C. Schatz, Giuseppe Narzisi, Michael Wigler, 2014, bioRxiv.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Whole-genome sequencing in an autism multiplex family

Gholson J Lyon, Hakon Hakonarson, Cuiping Hou, 2013, Molecular Autism.

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Susanne Walitza, Aribert Rothenberger, Takeshi Sakurai, 2011, Nature Genetics.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Jeffrey D. Mandell, Stephan J Sanders, N. Freimer, 2018, Cell reports.

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.

H. Stefánsson, N. Freimer, R. Ophoff, 2019, The American journal of psychiatry.

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

Douglas W. Woods, Jae Hoon Sul, Michael S. Okun, 2016, Neuron.

Proteomic and genomic characterization of a yeast model for Ogden syndrome

G. Lyon, Jonathan Crain, Han Fang, 2016, bioRxiv.

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Julius O. B. Jacobsen, D. Smedley, C. Mungall, 2021, Genome Medicine.

Mice deficient for the secreted glycoprotein SPARC/osteonectin/BM40 develop normally but show severe age‐onset cataract formation and disruption of the lens

J. Sanes, B. Hogan, D. Gilmour, 1998, The EMBO journal.

Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape☆

G. Lyon, J. Segal, 2013, Applied & translational genomics.

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

M. Daly, H. Stefánsson, R. Ophoff, 2022, Translational Psychiatry.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

NAA10-related syndrome

G. Lyon, Yiyang Wu, 2018, Experimental & Molecular Medicine.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Elevated Common Variant Genetic Risk for Tourette Syndrome in a Densely Affected Pedigree

Michael Okun, H. Stefánsson, R. Ophoff, 2021, Molecular Psychiatry.

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

G. Lyon, A. Voronova, E. Marchi, 2023, medRxiv.

Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly

M. Schatz, Yoon-ha Lee, M. Wigler, 2014, Nature Methods.

Isolation and Characterization of the Mouse Gene for the Type 3 Iodothyronine Deiodinase* *This work was supported in part by NIH Research Grant DK-42271 (to D.L.S.).

G. Lyon, D. S. St. Germain, Mark J. Schneider, 1999, Endocrinology.

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

Chunhua Weng, Mengge Zhao, James M Havrilla, 2019, bioRxiv.

SeqMule: automated pipeline for analysis of human exome/genome sequencing data

Kai Wang, Yufeng Shen, Gholson J. Lyon, 2015, Scientific Reports.

Autism Spectrum Symptoms in a Tourette's Disorder Sample.

W. McMahon, J. Scharf, G. Lyon, 2017, Journal of the American Academy of Child and Adolescent Psychiatry.

HadoopCNV: A dynamic programming imputation algorithm to detect copy number variants from sequencing data

Gary K. Chen, Hui Yang, Max M. He, 2017, bioRxiv.

Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome.

W. McMahon, J. Scharf, G. Lyon, 2015, JAMA psychiatry.

Scikit-ribo Enables Accurate Estimation and Robust Modeling of Translation Dynamics at Codon Resolution.

Adam Siepel, Han Fang, Yi-Fei Huang, 2018, Cell systems.

"I suggest herein that the genomics research community replace the term 'incidental findings' with the term 'unrelated findings', given that there is nothing incidental about proving causality for any mutation. "

G. Lyon, 2012 .

There is nothing ‘ incidental ’ about unrelated findings unrelated case of idiopathic hemolytic anemia

G. Lyon, 2012 .

"Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions"

Han Fang, Gholson J. Lyon, G. Lyon, 2014 .

Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway

Tae-Young Roh, T. Arnesen, G. Lyon, 2020, bioRxiv.

Naa 12 rescues embryonic lethality in Naa 10-Deficient Mice in the amino-1 terminal acetylation pathway 2 3

Ronen, Tae-Young Roh, T. Arnesen, 2020 .

Naa12 rescues embryonic lethality in Naa10-Deficient Mice in the amino-terminal acetylation pathway

Ronen, Tae-Young Roh, T. Arnesen, 2020 .

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

Mark Yandell, Jinchuan Xing, Leslie G Biesecker, 2011, Genome Biology.

“Genotype-first” approaches on a curious case of idiopathic progressive cognitive decline

Tianyun Liu, Gholson J Lyon, Xueying Ling, 2014, BMC Medical Genomics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Han Fang, David Mittelman, Gholson J. Lyon, 2017, BMC Medical Genomics.

Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10‐related neurodevelopmental syndrome

G. Lyon, E. Marchi, K. Amble, 2023, American journal of medical genetics. Part A.

Phenotypic variability and Gastrointestinal Manifestations/Interventions for growth in Ogden syndrome (also known as NAA10-related Syndrome)

G. Lyon, E. Marchi, K. Amble, 2022, medRxiv.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2019, Human molecular genetics.

Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

G. Highnam, D. Mittelman, G. Lyon, 2015, bioRxiv.

Molecular and cellular effects of the Ogden syndrome S37P mutation on the function of the N-terminal acetyltransferase Naa10

G. Lyon, M. Doerfel, 2014 .

X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome)

A. Rope, L. Bird, G. Lyon, 2013 .

The Implementation of Clinical Genomics: Ethical, Societal and Regulatory Considerations

G. Lyon, 2012 .

Personalized medicine: Bring clinical standards to human-genetics research

Gholson J Lyon, G. Lyon, 2012, Nature.

Personal account of the discovery of a new disease using next-generation sequencing. Interview by Natalie Harrison.

G. Lyon, 2011, Pharmacogenomics.

Gholson J LyonspeakstoNatalieHarrison,CommissioningEditor

G. Lyon, 2011 .

Peptide signaling in Staphylococcus aureus and other Gram-positive bacteria

Gholson J. Lyon, Richard P. Novick, G. Lyon, 2004, Peptides.

Human Genetics and Genomic Medicine

G. Lyon, M. Doerfel, Han Fang, 2012 .

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

H. Hakonarson, Cecilia Kim, J. Bradfield, 2013, Genome Medicine.

Detection of secreted peptides by using hypothesis-driven multistage mass spectrometry

Gholson J Lyon, Brian T Chait, B. Chait, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Rational design of a global inhibitor of the virulence response in Staphylococcus aureus, based in part on localization of the site of inhibition to the receptor-histidine kinase, AgrC.

T. Muir, G. Lyon, R. Novick, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Aripiprazole in children and adolescents with Tourette's disorder: an open-label safety and tolerability study.

G. Lyon, B. Coffey, Arie S. Spirgel, 2009, Journal of child and adolescent psychopharmacology.

Movement Disorders Tourette ’ s Disorder

G. Lyon, R. Kurlan, B. Coffey, 2010 .

Chemical signaling among bacteria and its inhibition.

T. Muir, G. Lyon, 2003, Chemistry & biology.

Complex tics and complex management in a case of severe Tourette's disorder (TD) in an adolescent.

G. Lyon, B. Coffey, 2009, Journal of child and adolescent psychopharmacology.

Targeting Receptor-Histidine Kinase Signaling in Staphylococcus Aureus

G. Lyon, 2002 .

Prevalence and predictors of hair pulling disorder and excoriation disorder in Tourette syndrome

Erin E. Curley, J. Scharf, G. Lyon, 2018, European Child & Adolescent Psychiatry.

Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome

W. McMahon, J. Scharf, G. Lyon, 2017, Psychological Medicine.

Social disinhibition is a heritable subphenotype of tics in Tourette syndrome

W. McMahon, Dongmei Yu, J. Scharf, 2016, Neurology.

Toward more accurate variant calling for “personal genomes”

W. Johnson, T. Jiang, Zhi Wei, 2013 .

Is Persistent Motor or Vocal Tic Disorder a Milder Form of Tourette Syndrome?

B. Greenberg, J. Knowles, J. McCracken, 2021, Movement disorders : official journal of the Movement Disorder Society.

Reversible and Specific Extracellular Antagonism of Receptor-Histidine Kinase Signaling*

T. Muir, A. Christopoulos, G. Lyon, 2002, The Journal of Biological Chemistry.

Exfoliatin-Producing Strains Define a Fourthagr Specificity Group in Staphylococcus aureus

T. Muir, F. Vandenesch, G. Lina, 2000, Journal of bacteriology.

Testing tic suppression: comparing the effects of dexmethylphenidate to no medication in children and adolescents with attention-deficit/hyperactivity disorder and Tourette's disorder.

F. Castellanos, G. Lyon, B. Coffey, 2010, Journal of child and adolescent psychopharmacology.

Presynaptic regulation of dopamine transmission in schizophrenia.

J. Lieberman, H. Moore, A. Abi-Dargham, 2011, Schizophrenia bulletin.

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

H. Stefánsson, B. Leventhal, W. McMahon, 2023, Biological Psychiatry.

Evaluating possible maternal effect lethality of Naa10 knockout mice, and modulation of phenotypes for embryonic and neonatal lethality by genetic background and environment

Melissa A. Nashat, T. Arnesen, G. Lyon, 2023, bioRxiv.

Neurodevelopmental Gene‐Related Dystonia: A Pediatric Case with NAA15 Variant

G. Lyon, L. Martorell, D. Yubero, 2022, Movement disorders : official journal of the Movement Disorder Society.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2020, Human molecular genetics.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

F. Martínez, Tzung-Chien Hsieh, G. Lyon, 2023, European Journal of Human Genetics.

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

M. Mücke, K. Devriendt, C. Nellåker, 2023, medRxiv.

Attention-Deficit Hyperactivity Disorder: A Handbook for Diagnosis and Treatmen, 3rd ed.

G. Lyon, B. Coffey, 2008 .

Postraumatic stress disorder and reactive attachment disorder: outcome in an adolescent.

G. Lyon, B. Coffey, Raul R. Silva, 2008, Journal of child and adolescent psychopharmacology.

Key determinants of receptor activation in the agr autoinducing peptides of Staphylococcus aureus.

T. Muir, G. Lyon, R. Novick, 2002, Biochemistry.

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

John J. Connolly, H. Hakonarson, Cecilia Kim, 2016, BMC Musculoskeletal Disorders.

From Molecular Understanding to Organismal Biology of N-Terminal Acetyltransferases.

G. Lyon, 2019, Structure.

Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome

G. Lyon, D. Carter, E. Marchi, 2023, medRxiv.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature Genetics.

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

G. Lyon, A. Voronova, E. Marchi, 2023, American journal of medical genetics. Part A.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Jeffrey D. Mandell, Stephan J Sanders, N. Freimer, 2018, Cell reports.

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

N. Freimer, M. Nöthen, W. McMahon, 2016, Neuron.

Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome.

W. McMahon, J. Scharf, G. Lyon, 2015, JAMA psychiatry.

OF NEURODEVELOPMENTAL DISORDERS

G. Lyon, 2015 .