Indira B. Taylor

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Anne Goriely, Ruth M. S. Hansen, Indira B. Taylor et al. · Nature Genetics · 2009 · 207 citations

Life Sciences, Genetics, Molecular Genetics +16

A biallelic mutation in <i>IL6ST</i> encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Tobias Schwerd, Stephen R.F. Twigg, Dominik Aschenbrenner et al. · The Journal of Experimental Medicine · 2017 · 199 citations · Full text

Life Sciences, Immunology, Molecular Genetics +17

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimée L Fenwick, Maciej Kliszczak, Fay Cooper et al. · The American Journal of Human Genetics · 2016 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Stephen R.F. Twigg, Kazuya Matsumoto, Alexa Kidd et al. · The American Journal of Human Genetics · 2006 · 104 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline

Eleni Giannoulatou, Gil McVean, Indira B. Taylor et al. · Proceedings of the National Academy of Sciences · 2013 · 87 citations · Full text

Medicine, Genetics, Molecular Genetics +17