D. Mark Layton

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

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

António Almeida, Yoshiko Murakami, D. Mark Layton et al. · Nature Medicine · 2006 · 224 citations

Life Sciences, Genetics, Molecular Biology +16

Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping

Mina Ohadi, M. R. A. LALLOZ, Pak C. Sham et al. · The American Journal of Human Genetics · 1999 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13