Amanda Krause

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Elfride De Baere, Diane Beysen, Christine Oley et al. · The American Journal of Human Genetics · 2003 · 240 citations · Full text

Biology, Mutational Hotspots, Allelic Variant +9

Lactase Haplotype Diversity in the Old World

Edward J. Hollox, Mark Poulter, Marek Zvarík et al. · The American Journal of Human Genetics · 2001 · 209 citations · Full text

Lactase Haplotype Diversity, Haplotype Determination, Molecular Ecology +8

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Elizabeth Stevens, Keren Carss, Sebahattin Çirak et al. · The American Journal of Human Genetics · 2013 · 192 citations · Full text

Mendelian Disorder, Developmental Biology, Genetic Disorder +2

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15