D. Mark Layton

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

António Almeida, Yoshiko Murakami, D. Mark Layton et al. · Nature Medicine · 2006 · 222 citations

Developmental Biology, Molecular Physiology, Genetic Disorder +8

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

Mendelian Disorder, Health Sciences, Cytogenetics +12

Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

Thomas G. Smith, Jerome Brooks, George M. Balanos et al. · PLoS Medicine · 2006 · 181 citations · Full text

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

Lesley J. Bruce, Hannah C Robinson, Hélène Guizouarn et al. · Nature Genetics · 2005 · 160 citations

Molecular Physiology, Signal Transduction, Biochemistry +11

Molecular analysis of the genotype-phenotype relationship in factor X deficiency

David Millar, Linda Elliston, P. Deex et al. · Human Genetics · 2000 · 127 citations

Factor X Deficiency, Genetic Disorder, Genetics +8