Conny M.A. van Ravenswaaij‐Arts

Diagnostic Genome Profiling in Mental Retardation

Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink et al. · The American Journal of Human Genetics · 2005 · 604 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa et al. · The American Journal of Human Genetics · 2003 · 473 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 397 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti et al. · The American Journal of Human Genetics · 2004 · 367 citations · Full text

Medicine, Genetics, Molecular Genetics +7

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16