Fatimah Rahman

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Esther Meyer, Derek Lim, Shanaz Pasha et al. · PLoS Genetics · 2009 · 324 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

Neil V. Morgan, Mark R. Morris, Hakan Cangül et al. · PLoS Genetics · 2010 · 225 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker et al. · Nature Genetics · 2010 · 180 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome)

Salwati Shuib, Dominic McMullan, Eleanor Rattenberry et al. · American Journal of Medical Genetics Part A · 2009 · 149 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

Neil V. Morgan, Sarah Goddard, Tony S. Cardno et al. · Journal of Clinical Investigation · 2011 · 99 citations · Full text

Life Sciences, Genetics, Immunology +17