Margaret A. Pericak‐Vance

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Alison Goate, Marie‐Christine Chartier‐Harlin, Jeremy Brown et al. · Nature · 1991 · 4.6K citations

Alzheimer's Disease, Genetics, Missense Mutation +9

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Robin Sherrington, Yuh‐Jin Liang, Ekaterina Rogaeva et al. · Nature · 1995 · 4K citations

Neurodegenerative Diseases, Early-onset Familial Alzheimer, Alzheimer's Disease +7

Mutations in the <i>FUS/TLS</i> Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Thomas J. Kwiatkowski, Daryl A. Bosco, Aurélie Leclerc et al. · Science · 2009 · 2.5K citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Somatic Variant +14

Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration

Jonathan L. Haines, Michael A. Hauser, Silke Schmidt et al. · Science · 2005 · 2.4K citations

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Lars G. Fritsche, Wilmar Igl, Jessica N. Cooke Bailey et al. · Nature Genetics · 2015 · 1.6K citations · Full text

Genome-wide Association Study, Ocular Disease, Ophthalmology +6