Author details

Full Name

Hywel J Williams

Affiliation

Cardiff University

ORCID

Career Start Year

1998

Papers

104

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34402903	ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.	J Clin Endocrinol Metab	2022
36086948	Rapid genome sequencing for pediatrics.	Hum Mutat	2022
34906446	Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.	Genet Med	2022
34730112	A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.	J Clin Invest	2021
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
32554502	Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.	Proc Natl Acad Sci U S A	2020
32637631	Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.	Neurol Genet	2020
30878599	Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.	EBioMedicine	2019
31688678	Information Is the Resolution of Uncertainty: Whole Genome Approaches to Genetic Diagnosis on the PICU.	Pediatr Crit Care Med	2019
31504653	Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.	J Clin Endocrinol Metab	2019
30879005	Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.	Horm Res Paediatr	2019
28790179	High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.	Thorax	2018
30193137	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.	Am J Hum Genet	2018
30049826	Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.	J Med Genet	2018
30057030	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.	Am J Hum Genet	2018
29541918	Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.	Acta Neuropathol	2018
28176794	X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.	Nat Commun	2017
28173822	An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.	Orphanet J Rare Dis	2017
28255779	Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.	J Inherit Metab Dis	2017
28132690	Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.	Am J Hum Genet	2017
26059840	STAG3 truncating variant as the cause of primary ovarian insufficiency.	Eur J Hum Genet	2016
26555645	Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.	Psychiatr Genet	2016
26446091	Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.	JIMD Rep	2016
27560481	Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.	Expert Rev Mol Diagn	2016
26974950	Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.	Nat Neurosci	2016
26059842	The use of whole-exome sequencing to disentangle complex phenotypes.	Eur J Hum Genet	2016
26196440	Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.	Transl Psychiatry	2015
26275891	Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.	Prenat Diagn	2015
24463507	De novo mutations in schizophrenia implicate synaptic networks.	Nature	2014
25439728	Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.	Am J Hum Genet	2014
23335482	Schizophrenia two-hit hypothesis in velo-cardio facial syndrome.	Am J Med Genet B Neuropsychiatr Genet	2013
22053977	ARVCF genetic influences on neurocognitive and neuroanatomical intermediate phenotypes in Chinese patients with schizophrenia.	J Clin Psychiatry	2012
22986046	Absence of de novo point mutations in exons of GRIN2B in a large schizophrenia trio sample.	Schizophr Res	2012
22328493	Genome-wide supported psychosis risk variant in ZNF804A gene and impact on cortico-limbic WM integrity in schizophrenia.	Am J Med Genet B Neuropsychiatr Genet	2012
20368704	Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder.	Mol Psychiatry	2011
21850710	Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia.	Am J Med Genet B Neuropsychiatr Genet	2011
21812098	Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain.	Am J Med Genet B Neuropsychiatr Genet	2011
21960518	Phenotype evaluation and genomewide linkage study of clinical variables in schizophrenia.	Am J Med Genet B Neuropsychiatr Genet	2011
21538840	Analysis of neurogranin (NRGN) in schizophrenia.	Am J Med Genet B Neuropsychiatr Genet	2011
21283083	Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder.	Mol Psychiatry	2011
21037240	Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries.	Hum Mol Genet	2011
21255266	Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder.	Genes Brain Behav	2011
20832056	Genome-wide association study of schizophrenia in a Japanese population.	Biol Psychiatry	2011
19786960	Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha.	Mol Psychiatry	2010
20862696	No evidence that rare coding variants in ZNF804A confer risk of schizophrenia.	Am J Med Genet B Neuropsychiatr Genet	2010
20603450	Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia.	Arch Gen Psychiatry	2010
19850283	Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches.	Biol Psychiatry	2010
20052689	Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome.	Am J Med Genet B Neuropsychiatr Genet	2010
18813210	Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2.	Mol Psychiatry	2009
19805695	Influence of NOS1 on verbal intelligence and working memory in both patients with schizophrenia and healthy control subjects.	Arch Gen Psychiatry	2009

1 - 50 of 104

Ney Alliey-Rodriguez

University of Chicago

Career Start Year 2009

Number of shared co-authors 14

Franziska Degenhardt

University of Duisburg-Essen

Career Start Year 2008

Number of shared co-authors 43

Stephan Ripke

Massachusetts General Hospital and Harvard Medical School

Career Start Year 2007

Number of shared co-authors 49

Jana Strohmaier

Central Institute of Mental Health, University of Heidelberg

Career Start Year 2007

Number of shared co-authors 35

Manuel Mattheisen

Dalhousie University

Career Start Year 2005

Number of shared co-authors 43

Omar Gustafsson

Technical University of Denmark

Career Start Year 2004

Number of shared co-authors 16

Thomas W M??hleisen

Institute of Neuroscience and Medicine (INM-1), Research Center Juelich

Career Start Year 2004

Number of shared co-authors 42

Shane McCarthy

Wellcome Sanger Institute

Career Start Year 2004

Number of shared co-authors 25

Sarah E Bergen

Karolinska Institutet

Career Start Year 2004

Number of shared co-authors 40

Xiangning Chen

Center for Precision Health, The University of Texas Health Science Center at Houston

Career Start Year 2003

Number of shared co-authors 19

Jin P Szatkiewicz

University of North Carolina

Career Start Year 2003

Number of shared co-authors 34

Evangelos Vassos

Institute of Psychiatry, King's College London

Career Start Year 2002

Number of shared co-authors 37

Anjene Addington

National Institute of Mental Health in Bethesda

Career Start Year 2001

Number of shared co-authors 9

Stefan Herms

Institute of Human Genetics, University of Bonn

Career Start Year 2001

Number of shared co-authors 44

Jonathan Sebat

University of California San Diego

Career Start Year 2000

Number of shared co-authors 25

Janice M Fullerton

University of New South Wales

Career Start Year 1999

Number of shared co-authors 36

Stephanie Le Hellard

University of Bergen

Career Start Year 1999

Number of shared co-authors 22

Patrick M A Sleiman

The Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 1999

Number of shared co-authors 18

Dalila Pinto

Icahn School of Medicine at Mount Sinai

Career Start Year 1997

Number of shared co-authors 38

Szabolcs Szelinger

College of American Pathologists

Career Start Year 1996

Number of shared co-authors 27

Zoran Brkanac

University of Washington

Career Start Year 1996

Number of shared co-authors 5

David B Goldstein

Institute for Genomic Medicine, Columbia University Irving Medical Center

Career Start Year 1992

Number of shared co-authors 23

Dimitrios Avramopoulos

Johns Hopkins School of Medicine

Career Start Year 1992

Number of shared co-authors 11

Srdjan Djurovic

Oslo University Hospital

Career Start Year 1991

Number of shared co-authors 44

Bertram M??ller-Myhsok

Max Planck Institute of Psychiatry

Career Start Year 1989

Number of shared co-authors 45

St??phane Jamain

INSERM

Career Start Year 1988

Number of shared co-authors 35

Richard E Straub

Lieber Institute for Brain Development

Career Start Year 1986

Number of shared co-authors 26

Judith A Badner

Rush University Medical College

Career Start Year 1984

Number of shared co-authors 28

James L Kennedy

Institute of Medical Sciences, University of Toronto

Career Start Year 1983

Number of shared co-authors 39

Guy A Rouleau

McGill University, Canada Montreal Neurological Institute and Hospital

Career Start Year 1981

Number of shared co-authors 48

row(s) 1 - 30 of 30

Michael J Owen

Co-authored papers 72

Michael C O'Donovan

Co-authored papers 65

George Kirov

Co-authored papers 29

Peter Holmans

Co-authored papers 22

Valentina Escott-Price

Co-authored papers 19

Nick Craddock

Co-authored papers 16

Marian L Hamshere

Co-authored papers 14

Aiden Corvin

Co-authored papers 9

Lisa Jones

Co-authored papers 9

Mehul T Dattani

Great Ormond Street Hospital for Children NHS Foundation Trust

Co-authored papers 9

Derek W Morris

Co-authored papers 9

Michael Gill

Co-authored papers 9

Ivan Nikolov

Co-authored papers 8

Nicholas J Bray

Division of Psychological Medicine & Clinical Neurosciences, Cardiff University

Co-authored papers 6

Beate St Pourcain

Max Planck Institute for Psycholinguistics

Co-authored papers 5

Maria Bitner-Glindzicz

UCL Great Ormond Street Institute of Child Health Library

Co-authored papers 5

Wolfgang Maier

University Hospital Bonn

Co-authored papers 5

Pamela Sklar

Co-authored papers 5

Pablo V Gejman

Co-authored papers 4

Ian Jones

Co-authored papers 4

Douglas F Levinson

Stanford University School of Medicine

Co-authored papers 4

Simon Lovestone

Janssen Medical Ltd

Co-authored papers 4

Peter McGuffin

Co-authored papers 4

Shaun Purcell

Brigham and Women's Hospital

Co-authored papers 4

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Co-authored papers 4

Alan R Sanders

Center for Psychiatric Genetics, NorthShore University HealthSystem

Co-authored papers 4

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 4

Markus M N??then

Institute of Human Genetics, University Hospital Bonn

Co-authored papers 3

Emma Footitt

Great Ormond Street Hospital for Children NHS Trust

Co-authored papers 3

Kenneth S Kendler

Virginia Commonwealth University

Co-authored papers 3

1 - 30

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