Lodewijk A. Sandkuijl

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

J. M. W. van den Ouweland, H.H.P.J. Lemkes, W. Ruitenbeek et al. · Nature Genetics · 1992 · 1.1K citations

Genetic Determinant, Mendelian Disorder, Genetic Disorder +9

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga, Jane Hewitt, Lodewijk A. Sandkuijl et al. · Nature Genetics · 1992 · 662 citations

Chromatin, Mendelian Disorder, Genetic Disorder +6

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Omer T. Njajou, Norbert Vaessen, Marijke Joosse et al. · Nature Genetics · 2001 · 497 citations

Genetic Disorder, Genetics, Hematology +7

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

Yvonne Hendriks, Anja Wagner, Hans Morreau et al. · Gastroenterology · 2004 · 427 citations · Full text

Somatic Variant, Cancer Epidemiology, Cancer Risk +10

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Petra G.M. van Overveld, Richard J F L Lemmers, Lodewijk A. Sandkuijl et al. · Nature Genetics · 2003 · 404 citations

Genetics, Molecular Biology, Degenerative Disease +2