World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
73
Citations
43083
World Ranking
1996
National Ranking
145

Medicine

D-Index
73
Citations
43447
World Ranking
19524
National Ranking
1022

Overview

Mark H. Skolnick is affiliated with Myriad Genetics (Germany), based in Germany. Their research contributions include work in genetic epidemiology, with a focus on hereditary conditions.

A notable publication from their research is the paper titled The incidence and gene frequency of ataxia-telangiectasia in the United States, published in 2020 in PubMed. This work has been cited 405 times, indicating its impact within the scientific community.

Frequent coauthors collaborating with Skolnick include:

  • M Swift
  • D Morrell
  • E Cromartie
  • A R Chamberlin
  • D. Timothy Bishop

Publication venues associated with their work include:

  • PubMed

Best Publications

  • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

    Yoshio Miki;Jeff Swensen;Donna Shattuck-Eidens;P. Andrew Futreal

  • A cell cycle regulator potentially involved in genesis of many tumor types

    Alexander Kamb;Nelleke A. Gruis;Jane Weaver-Feldhaus;Qingyun Liu

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

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

  • The genome of the domesticated apple ( Malus × domestica Borkh.)

    Riccardo Velasco;Andrey Zharkikh;Jason Affourtit;Amit Dhingra

  • BRCA1 mutations in primary breast and ovarian carcinomas

    P. Andrew Futreal;Qingyun Liu;Donna Shattuck-Eidens;Charles Cochran

  • A High Quality Draft Consensus Sequence of the Genome of a Heterozygous Grapevine Variety

    Riccardo Velasco;Andrey Zharkikh;Michela Troggio;Dustin A. Cartwright

  • Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands.

    David. E. Goldgar;Douglas. F. Easton;Lisa. A. Cannon-Albright;Mark H. Skolnick

  • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

    S.V. Tavtigian;J. Simard;J. Rommens;F. Couch

  • Analysis of the p16 gene (CDKN2) as a candidate· for the chromosome 9p melanoma susceptibility locus

    A. Kamb;D. Shattuck-Eidens;R. Eeles;R. Eeles;Qingyun Liu

  • Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

    David F. Barker;Sirkka Liisa Hostikka;Jing Zhou;Louise T. Chow

  • Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

    D. Barker;E. Wright;K. Nguyen;L. Cannon

  • Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

    Corwin Q. Edwards;Linda M. Griffen;David Goldgar;Charles Drummond

  • A candidate prostate cancer susceptibility gene at chromosome 17p.

    Sean V. Tavtigian;Jacques Simard;David H F Teng;Vicki Abtin

  • Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22.

    Lisa A. Cannon-Albright;David E. Goldgar;Laurence J. Meyer;Cathryn M. Lewis

  • Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers.

    L A Cannon-Albright;M H Skolnick;D T Bishop;R G Lee

  • A Collaborative Survey of 80 Mutations in the BRCA1 Breast and Ovarian Cancer Susceptibility Gene: Implications for Presymptomatic Testing and Screening

    Donna Shattuck Eidens;Melody Mcclure;Jacques Simard;Fernand Labrie

  • BRCA1 Sequence Analysis in Women at High Risk for Susceptibility Mutations: Risk Factor Analysis and Implications for Genetic Testing

    Donna Shattuck-Eidens;Arnold Oliphant;Melody McClure;Celeste McBride

  • Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families

    J. Simard;P. Tonin;F. Durocher;K. Morgan

  • A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

    Kirsten M. Timms;Susanne Wagner;Mark E. Samuels;Kristian Forbey

  • Hereditary hemochromatosis. Phenotypic expression of the disease.

    G E Cartwright;C Q Edwards;K Kravitz;M Skolnick

Frequent Co-Authors

Lisa A. Cannon-Albright
Lisa A. Cannon-Albright University of Utah
David E. Goldgar
David E. Goldgar University of Utah
Thomas B. Shows
Thomas B. Shows Roswell Park Cancer Institute
Sean V. Tavtigian
Sean V. Tavtigian University of Utah
Roland Berger
Roland Berger Necker-Enfants Malades Hospital
Newton E. Morton
Newton E. Morton University of Southampton
Kenneth K. Kidd
Kenneth K. Kidd Yale University
David R. Cox
David R. Cox Stanford University
Ray White
Ray White University of Utah
Peter L. Pearson
Peter L. Pearson Universidade de São Paulo

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