Raoul C.M. Hennekam

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange et al. · The American Journal of Human Genetics · 2012 · 166 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 156 citations · Full text

Developmental Anomaly, Clinical Disorders, Developmental Biology +8

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

J Groen, Arturo Andrade, Katja Ritz et al. · Human Molecular Genetics · 2014 · 87 citations · Full text

Cardiac Muscle, Exome Sequencing, Genetics +19

Polytopic anomalies with agenesis of the lower vertebral column

Axel Bohring, Susan O. Lewin, James F. Reynolds et al. · American Journal of Medical Genetics · 1999 · 62 citations

Further delineation of the acro-renal-ocular syndrome

Cora M. Aalfs, Mary J. van Schooneveld, Estéban M. van Keulen et al. · American Journal of Medical Genetics · 1996 · 42 citations