Mette Warburg

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 373 citations · Full text

Cohen Syndrome Is, Molecular Physiology, Disease Mechanism +10

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen et al. · Nature Genetics · 2005 · 224 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +7

Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21

Elspeth A. Bruford, Ruth Riise, Peter Teague et al. · Genomics · 1997 · 124 citations

Chromosome Dynamics, Linkage Mapping, Chromosomal Regions 11Q13 +10

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Juha Kolehmainen, Robert N. Wilkinson, Anna-Elina Lehesjoki et al. · The American Journal of Human Genetics · 2004 · 122 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism

Mette Warburg · American journal of diseases of children · 1993 · 108 citations

Ocular Disease, Affected Children, Mendelian Disorder +17