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 · 603 citations · Full text

Psychiatry, Genetics, Psychiatric Genetics +4

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 · 471 citations · Full text

Dna Sequencing, Sequencing, Next-generation Sequencing +9

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 · 382 citations · Full text

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 · 363 citations · Full text

Sclerostin, Signal Transduction, Molecular Physiology +8

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

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8