Hannie Kremer

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +11

<i>SDH5</i> , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

Huai‐Xiang Hao, Oleh Khalimonchuk, Margit Schraders et al. · Science · 2009 · 703 citations

Life Sciences, Genetics, Molecular Biology +17

Localization of the gene for Cowden disease to chromosome 10q22–23

Marcel Nelen, G.W. Padberg, E Peeters et al. · Nature Genetics · 1996 · 670 citations

Life Sciences, Genetics, Molecular Genetics +10

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 517 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

Hannie Kremer, Robert Kraaij, S. P. A. Toledo et al. · Nature Genetics · 1995 · 359 citations · Full text

Medicine, Endocrinology, Genetics +15