Margaret Barrow

A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

David Johnson, Sharon W. Horsley, Dominique M. Moloney et al. · The American Journal of Human Genetics · 1998 · 230 citations · Full text

Chromatin, Developmental Biology, Twist Mutations +10

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse et al. · Human Mutation · 2007 · 209 citations

Slc2a10 Mutations, Genetics, Vascular Malformation +19

Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

D.M. Hagan, Alison Ross, T Strachan et al. · The American Journal of Human Genetics · 2000 · 136 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Andrew O.M. Wilkie, Veronica J. Buckle, Peter C. Harris et al. · PubMed · 1990 · 135 citations

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

Tomoo Ogi, Sarah Walker, Tom Stiff et al. · PLoS Genetics · 2012 · 112 citations · Full text