Roland Heilig

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics · 1997 · 678 citations

Biology, Developmental Biology, Novel Gene Family +9

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Caroline Lefèvre, Florence Jobard, F. Caux et al. · The American Journal of Human Genetics · 2001 · 460 citations · Full text

Mendelian Disorder, Biochemistry, Genetic Disorder +10

Continuum of overlapping clones spanning the entire human chromosome 21q

Ilya Chumakov, Philippe Rigault, Sophie Guillou et al. · Nature · 1992 · 390 citations · Full text

Chromatin, Genome Instability, Developmental Biology +7

Mutations of the <i>presenilin I</i> gene in families with early-onset Alzheimer's disease

Dominique Campion, Jean‐Michel Flaman, Alexis Brice et al. · Human Molecular Genetics · 1995 · 278 citations

A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia

M. Busson-Leconiat, Paola Ballerini, M Mauchauffé et al. · Leukemia · 2001 · 255 citations

Hematological Malignancy, Lymphoid Neoplasia, Specific Cryptic Translocation +10