Shanaz Pasha

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton et al. · Nature Genetics · 2006 · 538 citations · Full text

Life Sciences, Neurology, Neuroscience +8

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

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Ursula M. Smith, Mark Consugar, Louise Tee et al. · Nature Genetics · 2006 · 292 citations

Life Sciences, Genetics, Molecular Genetics +7

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

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Manju A. Kurian, Juan Zhen, Shuyuan Cheng et al. · Journal of Clinical Investigation · 2009 · 224 citations · Full text

Medicine, Genetics, Molecular Genetics +17