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Genetics

D-Index
72
Citations
48672
World Ranking
2081
National Ranking
257

Overview

Sheila Seal is affiliated with the Institute of Cancer Research in the United Kingdom. Their research contributions primarily lie within the fields of Biochemistry, Genetics, and Molecular Biology, with a particular focus on Genetics, Cancer Research, Oncology, and Molecular Biology as subfields.

The scientist's main topics of study involve:

  • Genomics and Rare Diseases
  • Cancer Genomics and Diagnostics
  • Genomic variations and chromosomal abnormalities
  • BRCA gene mutations in cancer
  • PARP inhibition in cancer therapy
  • CRISPR and Genetic Engineering

Sheila Seal has authored several research papers, including:

  • "One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation," published in 2021 in Genetics in Medicine
  • "One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation," published in 2020 in bioRxiv (Cold Spring Harbor Laboratory)
  • "A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland," published in 2022 in Familial Cancer

The venues where Sheila Seal's work has appeared include:

  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Familial Cancer

Frequent co-authors collaborating with Sheila Seal are:

  • Nazneen Rahman
  • Stephen E. Lincoln
  • Tina Hambuch
  • Justin M. Zook
  • Sara L. Bristow

Best Publications

  • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

    Paul R. Burton;David G. Clayton;Lon R. Cardon;Nick Craddock

  • Identification of the breast cancer susceptibility gene BRCA2

    Wooster R;Bignell G;Lancaster J;Swift S

  • Genome-wide association study identifies novel breast cancer susceptibility loci

    Douglas F. Easton;Karen A. Pooley;Alison M. Dunning;Paul D. P. Pharoah

  • Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13

    Richard Wooster;Susan L. Neuhausen;Jonathan Mangion;Yvette Quirk

  • Genome-wide association study identifies eight loci associated with blood pressure

    Christopher Newton-Cheh;Christopher Newton-Cheh;Toby Johnson;Toby Johnson;Vesela Gateva;Martin D. Tobin

  • Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

    Paul R Burton;David G Clayton;Lon R Cardon;Nick Craddock

  • Association analysis identifies 65 new breast cancer risk loci

    Kyriaki Michailidou;Kyriaki Michailidou;Sara Lindström;Sara Lindström;Joe Dennis;Jonathan Beesley

  • Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

    Hanne Meijers-Heijboer;Ans van den Ouweland;Jan Klijn;Marijke Wasielewski

  • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

    Nazneen Rahman;Sheila Seal;Deborah Thompson;Patrick Kelly

  • Prevalence of BRCA1 and BRCA2 Gene Mutations in Patients With Early-Onset Breast Cancer

    Julian Peto;Nadine Collins;Rita Barfoot;Sheila Seal

  • Breast-Cancer Risk in Families with Mutations in PALB2

    A. C. Antoniou;S. Casadei;T. Heikkinen;D. Barrowdale

  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

    Nick Craddock;Matthew E. Hurles;Niall Cardin;Richard D. Pearson

  • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

    Anthony Renwick;Deborah Thompson;Sheila Seal;Patrick Kelly

  • Genome-wide association study identifies five new breast cancer susceptibility loci

    Clare Turnbull;Shahana Ahmed;Jonathan Morrison;David Pernet

  • Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

    Sheila Seal;Deborah Thompson;Anthony Renwick;Anna Elliott

  • Identification of the familial cylindromatosis tumour-suppressor gene.

    Graham R. Bignell;William Warren;Sheila Seal;Meiko Takahashi

  • Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

    Sarah Reid;Detlev Schindler;Helmut Hanenberg;Helmut Hanenberg;Karen Barker

  • Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

    Sergey Nejentsev;Joanna M. M. Howson;Neil M. Walker;Jeffrey Szeszko

  • A common coding variant in CASP8 is associated with breast cancer risk

    Angela Cox;Alison M. Dunning;Montserrat Garcia-Closas;Sabapathy Balasubramanian

  • Erratum: Identification of the breast cancer susceptibility gene BRCA2

    Richard Wooster;Graham Bignell;Jonathan Lancaster;Sally Swift

Frequent Co-Authors

Nazneen Rahman
Nazneen Rahman Institute of Cancer Research
Michael R. Stratton
Michael R. Stratton Wellcome Sanger Institute
Douglas F. Easton
Douglas F. Easton University of Cambridge
Diana Eccles
Diana Eccles University of Southampton
Clare Turnbull
Clare Turnbull Institute of Cancer Research
D. Gareth Evans
D. Gareth Evans University of Manchester
Hiltrud Brauch
Hiltrud Brauch German Cancer Research Center
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Graham G. Giles
Graham G. Giles University of Melbourne
Jenny Chang-Claude
Jenny Chang-Claude German Cancer Research Center

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