Guida Landouré

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 568 citations · Full text

High-depth African genomes inform human migration and health

Ananyo Choudhury, Shaun Aron, Laura R. Botigué et al. · Nature · 2020 · 350 citations · Full text

Human Variation, Genetics, High-depth African Genomes +6

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Guida Landouré, Anselm A. Zdebik, Tara Martinez et al. · Nature Genetics · 2009 · 332 citations · Full text

Genetic Disorder, Pathogenesis, Pathology +3

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

Carlo Rinaldi, Christopher Grunseich, Irina F. Sevrioukova et al. · The American Journal of Human Genetics · 2012 · 154 citations · Full text

Autoimmune Disease, Disease Mechanism, Genetic Disorder +7

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

M. Zimoń, Jonathan Baets, Michaela Auer‐Grumbach et al. · Brain · 2010 · 133 citations · Full text