World's Best Scientists 2026 revealed!

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Genetics

D-Index
58
Citations
11041
World Ranking
3329
National Ranking
402

Overview

Eamonn Sheridan is affiliated with the University of Leeds in the United Kingdom. Their research spans the broad field of Biochemistry, Genetics and Molecular Biology, with significant contributions in Genetics and Molecular Biology as the primary subfields. Other areas of study include Immunology, Public Health, Environmental and Occupational Health, and Cell Biology.

The scientist's main research topics cover:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Epigenetics and DNA Methylation
  • Genetic Associations and Epidemiology
  • Genomic Variations and Chromosomal Abnormalities
  • BRCA Gene Mutations in Cancer
  • Immunodeficiency and Autoimmune Disorders

Eamonn Sheridan has authored and co-authored multiple papers, notable among them:

  • "Germline TET2 loss of function causes childhood immunodeficiency and lymphoma," 2020, Blood
  • "A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome," 2020, Genetics in Medicine
  • "Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly," 2020, Neuron
  • "Fine-scale population structure and demographic history of British Pakistanis," 2021, Nature Communications
  • "Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic," 2021, Genetics in Medicine

The scientist frequently publishes in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Journal of Medical Genetics
  • Blood
  • Neuron

Collaborative research is an important aspect of their work. Frequent co-authors include James A. Poulter, Colin A. Johnson, Helen V. Firth, Hilary C. Martin, and Daniel Malawsky, with several collaborations producing multiple joint publications.

Best Publications

  • Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

    Detlef Bockenhauer;Sally Feather;Horia C Stanescu;Sascha Bandulik

  • Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder

    Wilhelmina G. Leen;Joerg Klepper;Marcel M. Verbeek;Maike Leferink

  • Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Clare V Logan;György Szabadkai;György Szabadkai;Jenny A Sharpe;David A Parry

  • A germline deletion of p14ARF but not CDKN2A in a melanoma–neural system tumour syndrome family

    Juliette A. Randerson-Moor;Mark Harland;Sarah Williams;Darren Cuthbert-Heavens

  • Health and population effects of rare gene knockouts in adult humans with related parents.

    Vagheesh M. Narasimhan;Karen A. Hunt;Dan Mason;Christopher L. Baker

  • Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

    Amy L. Sherborne;Fay J. Hosking;Rashmi B. Prasad;Rajiv Kumar

  • T (brachyury) gene duplication confers major susceptibility to familial chordoma

    Xiaohong R Yang;David Ng;David A Alcorta;Norbert J Liebsch

  • CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

    Jennifer R Panizzi;Anita Becker-Heck;Victoria H Castleman;Dalal A Al-Mutairi;Dalal A Al-Mutairi

  • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  • A global disorder of imprinting in the human female germ line

    Hannah Judson;Bruce E. Hayward;Eamonn Sheridan;David T. Bonthron

  • Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

    David A. Parry;Clare V. Logan;Bruce E. Hayward;Michael Shires

  • Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome

    Michel De Vos;Bruce E. Hayward;Susan Picton;Eamonn Sheridan

  • Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

    Tony Roscioli;Tony Roscioli;Erik-Jan Kamsteeg;Karen Buysse;Isabelle Maystadt

  • ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

    Maimoona A. Zariwala;Heon Yung Gee;Małgorzata Kurkowiak;Małgorzata Kurkowiak;Małgorzata Kurkowiak;Dalal A. Al-Mutairi;Dalal A. Al-Mutairi

  • Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

    Peter Green;Matthew Wiseman;Yanick J. Crow;Henry Houlden

  • Genomic Deletions in MSH2 or MLH1 Are a Frequent Cause of Hereditary Non-Polyposis Colorectal Cancer: Identification of Novel and Recurrent Deletions by MLPA

    C.F. Taylor;R.S. Charlton;J. Burn;E. Sheridan

  • Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

    Mohammad R. Abdollahi;Ewan Morrison;Tamara Sirey;Zoltan Molnar

  • The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

    Mehmet Bakircioglu;Ofélia P. Carvalho;Maryam Khurshid;James J. Cox

  • Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype

    Gabriele Migliorini;Bettina Fiege;Fay J. Hosking;Yussanne Ma

  • CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

    Rim Hjeij;Alexandros Onoufriadis;Christopher M. Watson;Christopher E. Slagle

Frequent Co-Authors

David T. Bonthron
David T. Bonthron University of Leeds
Colin A. Johnson
Colin A. Johnson University of Leeds
Clare V. Logan
Clare V. Logan University of Edinburgh
Graham R. Taylor
Graham R. Taylor Imperial College London
Chris F. Inglehearn
Chris F. Inglehearn University of Leeds
Alexander F. Markham
Alexander F. Markham St James's University Hospital
Kari Hemminki
Kari Hemminki Charles University
Hannah M. Mitchison
Hannah M. Mitchison University College London
Richard S. Houlston
Richard S. Houlston Institute of Cancer Research
Eve Roman
Eve Roman University of York

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