Deborah Ruddy

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Caroline Vance, Boris Rogelj, Tibor Hortobágyi et al. · Science · 2009 · 2.5K citations · Full text

Engineering, Genetics, Molecular Genetics +17

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3

Caroline Vance, Ammar Al‐Chalabi, Deborah Ruddy et al. · Brain · 2006 · 382 citations · Full text

Neurological Disorder, Genetics, Genetic Epidemiology +23

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 165 citations · Full text

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

Laura Southgate, Rajiv D. Machado, Katie Snape et al. · The American Journal of Human Genetics · 2011 · 117 citations · Full text

Limb Anomalies, Signal Transduction, Signaling Pathway +7

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos et al. · Circulation Cardiovascular Genetics · 2015 · 101 citations · Full text