Connie Schrander‐Stumpel

Identification of the familial cylindromatosis tumour-suppressor gene

Graham R. Bignell, William Warren, Sheila Seal et al. · Nature Genetics · 2000 · 667 citations

Tumor Biology, Genetics, Pathology +4

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 358 citations · Full text

X-linked Dominant Form, Genetic Disorder, Genetics +8

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory et al. · Brain · 2013 · 246 citations · Full text

Neurological Disorder, Corticobasal Degeneration, Brain Iron Accumulation +19

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Karin Buiting, Bärbel Dittrich, Stephanie Groß et al. · The American Journal of Human Genetics · 1998 · 215 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +8

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer et al. · European Journal of Medical Genetics · 2009 · 215 citations

Developmental Biology, Genetic Disorder, Genetics +7