Forbes Manson

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Rosemary Burgess, I. D. Millar, Bart P. Leroy et al. · The American Journal of Human Genetics · 2008 · 313 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations of <i>VMD2</i> Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Jill Yardley, Bart P. Leroy, Niki Hart‐Holden et al. · Investigative Ophthalmology & Visual Science · 2004 · 228 citations · Full text

Medicine, Genetics, Ophthalmology +17

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

May Tassabehji, Zhi Fang, Emma Hilton et al. · Human Mutation · 2008 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Alice E. Davidson, I. D. Millar, Jill Urquhart et al. · The American Journal of Human Genetics · 2009 · 184 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Elena Boland, Jill Clayton‐Smith, Victoria G. Woo et al. · The American Journal of Human Genetics · 2007 · 172 citations · Full text

Life Sciences, Genetics, Neuroscience +17