Karen Helene Ørstavik

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 426 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

James S. Sutcliffe, Mitsuyoshi Nakao, Susan L. Christian et al. · Nature Genetics · 1994 · 422 citations

Transcriptional Regulation, Cpg Island, Natural Sciences +10

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Marina Raffaele di Barletta, Enzo Ricci, Giuliana Galluzzi et al. · The American Journal of Human Genetics · 2000 · 411 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

Alison Ross, Víctor L. Ruiz‐Pérez, Yiming Wang et al. · Nature Genetics · 1998 · 289 citations

Biology, Developmental Biology, Genetic Disorder +10

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee et al. · The American Journal of Human Genetics · 2007 · 269 citations · Full text

Knockout Mouse, Developmental Anomaly, Developmental Biology +9