Somayyeh Fahiminiya

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Leora Witkowski, Jian Carrot‐Zhang, Steffen Albrecht et al. · Nature Genetics · 2014 · 500 citations

Medicine, Genetics, Oncology +14

Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome

Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś et al. · Journal of Medical Genetics · 2015 · 245 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

Alexandre Janer, Julien Prudent, Vincent Paupe et al. · EMBO Molecular Medicine · 2016 · 210 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mutations in WNT1 are a cause of osteogenesis imperfecta

Somayyeh Fahiminiya, Jacek Majewski, John S. Mort et al. · Journal of Medical Genetics · 2013 · 196 citations

Medicine, Genetics, Molecular Genetics +17

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Bárbara Rivera, Tenzin Gayden, Jian Carrot‐Zhang et al. · Acta Neuropathologica · 2016 · 196 citations · Full text

Veterinary Medicine, Developmental Biology, Oncology +11