Irene Stolte‐Dijkstra

Mutations in PTF1A cause pancreatic and cerebellar agenesis

Gabrielle S. Sellick, Karen Barker, Irene Stolte‐Dijkstra et al. · Nature Genetics · 2004 · 457 citations

Genetic Disorder, Genetics, Ptf1a Cause Pancreatic +4

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Dewi Astuti, Mark R. Morris, Wendy N. Cooper et al. · Nature Genetics · 2012 · 247 citations

Perlman Syndrome, Somatic Variant, Genetic Disorder +10

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud et al. · The American Journal of Human Genetics · 2011 · 235 citations · Full text

Urology, Mendelian Disorder, Renal Insufficiency +11

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang et al. · The American Journal of Human Genetics · 2011 · 228 citations · Full text

Fibrosis, Developmental Biology, Signal Transduction +8