Susan Kenwrick

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

X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

Monique Jouet, André Rosenthal, Giles Armstrong et al. · Nature Genetics · 1994 · 420 citations

Hydrocephalus Result, Medicine, Genetics +8

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus

André Rosenthal, Monique Jouet, Susan Kenwrick · Nature Genetics · 1992 · 318 citations

Transcriptional Regulation, Molecular Neuroscience, Aberrant Splicing +10

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

Barbara J. Trask, Hillary F. Massa, Susan Kenwrick et al. · PubMed · 1991 · 222 citations

A transcribed gene in an intron of the human factor VIII gene

Barbara Levinson, Susan Kenwrick, Delia Lakich et al. · Genomics · 1990 · 181 citations

Transcribed Gene, Natural Sciences, Genetics +6