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Genetics

D-Index
65
Citations
24721
World Ranking
2659
National Ranking
336

Overview

Hywel Williams is affiliated with University College London in the United Kingdom. Their research work spans several intersecting fields within biochemistry, genetics, molecular biology, and medicine. The scientist has contributed extensively to molecular biology and genetics with a particular focus on RNA modifications, cancer, and genomics related to rare diseases.

The main fields of study in Williams' research include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

This work extends into specialized subfields such as molecular biology, genetics, endocrinology, diabetes and metabolism, epidemiology, and pathology and forensic medicine.

  • Molecular Biology
  • Genetics
  • Endocrinology, Diabetes and Metabolism
  • Epidemiology
  • Pathology and Forensic Medicine

Williams has addressed several main topics through their publications, including:

  • RNA modifications and cancer
  • Genomics and Rare Diseases
  • Genomics and Chromatin Dynamics
  • Genetics and Neurodevelopmental Disorders
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • RNA Research and Splicing
  • RNA regulation and disease

Frequent co-authors collaborating with Williams are:

  • Mehul Dattani
  • Polona Le Quesne Stabej
  • Sinead McGlacken-Byrne
  • Louise Ocaka
  • John C. Achermann

The scientist has published in multiple venues including:

  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • The Journal of Clinical Endocrinology & Metabolism
  • Proceedings of the National Academy of Sciences
  • Human Mutation

Recent papers authored or co-authored by Williams illustrate the scope of their research:

  • "Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis" (2020), published in Proceedings of the National Academy of Sciences
  • "ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency" (2021), published in The Journal of Clinical Endocrinology & Metabolism
  • "Rapid genome sequencing for pediatrics" (2022), published in Human Mutation
  • "Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency" (2021), published in Genetics in Medicine
  • "Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene" (2020), published in Neurology Genetics

Best Publications

  • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

    Shaun M. Purcell;Shaun M. Purcell;Naomi R. Wray;Jennifer L. Stone;Jennifer L. Stone;Peter M. Visscher

  • Genome-wide association study identifies five new schizophrenia loci

    Stephan Ripke;Alan R. Sanders;Kenneth S. Kendler;Douglas F. Levinson

  • De novo mutations in schizophrenia implicate synaptic networks

    Menachem Fromer;Andrew Pocklington;David Kavanagh;Hywel John Williams

  • Rare chromosomal deletions and duplications increase risk of schizophrenia

    Jennifer L. Stone;Jennifer L. Stone;Jennifer L. Stone;Michael C. O’Donovan;Hugh Gurling;George K. Kirov

  • Identification of loci associated with schizophrenia by genome-wide association and follow-up

    Michael C. O'Donovan;Nicholas Craddock;Nadine Norton;Hywel Williams

  • Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

    Tarjinder Singh;Mitja I Kurki;David Curtis;Shaun M Purcell

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • A full genome scan for late onset Alzheimer's disease

    Patrick Kehoe;Fabienne Wavrant-De Vrieze;Richard Crook;William S. Wu

  • A Haplotype Implicated in Schizophrenia Susceptibility Is Associated with Reduced COMT Expression in Human Brain

    Nicholas John Bray;Paul Robert Buckland;Nigel Melville Williams;Hywel John Williams

  • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Jie Huang;Bryan Howie;Shane McCarthy;Yasin Memari

  • Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease.

    P G Kehoe;C Russ;S McIlory;H Williams

  • Fine mapping of ZNF804A and genome wide significant evidence for its involvement in schizophrenia and bipolar disorder.

    H. J. Williams;N. Norton;S. Dwyer;V. Moskvina

  • Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia

    Nigel Melville Williams;A Preece;G Spurlock;N Norton

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1).

    N. M. Williams;A Preece;D. W. Morris;G. Spurlock

  • Genomewide linkage scan in schizoaffective disorder: significant evidence for linkage at 1q42 close to DISC1, and suggestive evidence at 22q11 and 19p13

    Marian Lindsay Hamshere;Philip Bennett;Nigel Melville Williams;Ricardo Segurado

  • Is COMT a Susceptibility Gene for Schizophrenia

    Hywel Williams;Michael John Owen;Michael Conlon O'Donovan

  • Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools.

    Nadine Norton;Nigel Melville Williams;Hywel J. Williams;Gillian Spurlock

  • Genotype effects of CHRNA7, CNR1 and COMT in schizophrenia: interactions with tobacco and cannabis use

    Stanley Zammit;Gillian Spurlock;Hywel Williams;Nadine Norton

Frequent Co-Authors

Michael Conlon O'Donovan
Michael Conlon O'Donovan Cardiff University
Michael John Owen
Michael John Owen Cardiff University
Nadine Norton
Nadine Norton Mayo Clinic
Nigel Williams
Nigel Williams Cardiff University
George Kirov
George Kirov Cardiff University
Peter Holmans
Peter Holmans Cardiff University
Stanley Zammit
Stanley Zammit University of Bristol
Nicholas John Craddock
Nicholas John Craddock Cardiff University
Valentina Moskvina
Valentina Moskvina Cardiff University
Marian L. Hamshere
Marian L. Hamshere Cardiff University

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