Glen Brice

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

Tayebeh Rezaie, Anne H. Child, Roger A. Hitchings et al. · Science · 2002 · 1.1K citations

Life Sciences, Genetics, Ophthalmology +13

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Chey Loveday, Clare Turnbull, Emma Ramsay et al. · Nature Genetics · 2011 · 537 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Østergaard, Michael A. Simpson, Fiona Connell et al. · Nature Genetics · 2011 · 503 citations

Life Sciences, Genetics, Molecular Genetics +10

Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

Ivaylo Stoilov, Nurten Akarsu, Ihuoma Alozie et al. · The American Journal of Human Genetics · 1998 · 392 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Elisavet Fotiou, Silvia Martin‐Almedina, Michael A. Simpson et al. · Nature Communications · 2015 · 325 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13