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Genetics

D-Index
90
Citations
26775
World Ranking
1078
National Ranking
151

Medicine

D-Index
98
Citations
34634
World Ranking
8933
National Ranking
868

Overview

Jill Clayton-Smith is affiliated with the University of Manchester in the United Kingdom. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with a significant focus on Medicine. Within these broad fields, their work is concentrated in subfields such as Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Public Health, Environmental and Occupational Health, and Surgery.

The main topics addressed in Jill Clayton-Smith's work include:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic Variations and Chromosomal Abnormalities
  • Pharmacological Effects and Toxicity Studies
  • Pregnancy and Medication Impact
  • Epilepsy Research and Treatment
  • RNA Research and Splicing

Jill Clayton-Smith has published multiple papers across notable scientific journals. Recent publications include:

  • "Whole-genome sequencing of patients with rare diseases in a national health system," 2020, Nature
  • "ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria," 2021, Brain
  • "Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders," 2021, Scientific Reports
  • "Timing of Primary Surgery for Cleft Palate," 2023, New England Journal of Medicine
  • "Monotherapy treatment of epilepsy in pregnancy: Congenital malformation outcomes in the child," 2023, Neurotoxicology and Teratology

The scientist has collaborated frequently with various researchers, including Siddharth Banka, Laurence Faivre, Graeme C. Black, Rebecca Bromley, and Matthew Bluett-Duncan.

Jill Clayton-Smith's research has been disseminated largely in several leading publication venues, reflecting a range of study topics and medical genetics focus areas. These venues include:

  • The American Journal of Human Genetics
  • Neurotoxicology and Teratology
  • Genetics in Medicine
  • Journal of Medical Genetics
  • Orphanet Journal of Rare Diseases

Best Publications

  • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

    A K Ryan;J A Goodship;D I Wilson;N Philip

  • Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study

    Kimford J Meador;Gus A Baker;Nancy Browning;Morris J Cohen

  • Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs

    Kimford J. Meador;Gus A. Baker;Nancy Browning;Jill Clayton-Smith

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • The longer term outcome of children born to mothers with epilepsy

    N Adab;U Kini;J Vinten;J Ayres

  • Angelman syndrome: a review of the clinical and genetic aspects

    J Clayton-Smith;L A Laan

  • Angelman syndrome 2005: updated consensus for diagnostic criteria.

    Charles A. Williams;Arthur L. Beaudet;Jill Clayton-Smith;Joan H. Knoll

  • Large, rare chromosomal deletions associated with severe early-onset obesity

    Elena G. Bochukova;Ni Huang;Julia Keogh;Elana Henning

  • Aspirin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

    P W Horby;M Campbell;E Spata;Emberson

  • Angelman syndrome : consensus for diagnostic criteria. Angelman syndrome foundation

    C A Williams;H Angelman;J Clayton-Smith;D J Driscoll

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs

    Rebecca Louise Bromley;George E Mawer;Maria Briggs;Christopher Cheyne

  • Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

    Juha Kolehmainen;Graeme C.M. Black;Graeme C.M. Black;Anne Saarinen;Kate Chandler

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child

    Jennifer Weston;Rebecca Bromley;Cerian F Jackson;Naghme Adab

  • Uniparental paternal disomy in Angelman's syndrome

    S. Malcolm;J. Clayton-Smith;M. Nichols;M.E. Pembrey

  • Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

    Christiane Zweier;Maarit M Peippo;Juliane Hoyer;Sergio Sousa

  • Assisted reproductive therapies and imprinting disorders—a preliminary British survey

    A.G. Sutcliffe;C.J. Peters;S. Bowdin;K. Temple

  • Conference Report Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria

    Charles A. Williams;Arthur L. Beaudet;Jill Clayton-Smith;Joan H. Knoll

  • Syndromes of the Head and Neck

    Jill Clayton-Smith

Frequent Co-Authors

Graeme C.M. Black
Graeme C.M. Black University of Manchester
Dian Donnai
Dian Donnai University of Manchester
Gus A. Baker
Gus A. Baker University of Liverpool
Bronwyn Kerr
Bronwyn Kerr University of Manchester
Han G. Brunner
Han G. Brunner Radboud University
Joyce Liporace
Joyce Liporace Thomas Jefferson University
William G. Newman
William G. Newman University of Manchester
Michael Privitera
Michael Privitera University of Cincinnati
Page B. Pennell
Page B. Pennell University of Pittsburgh

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