T
Tobias Hermle
Researcher at Harvard University
Publications - 1
Citations - 149
Tobias Hermle is an academic researcher from Harvard University. The author has contributed to research in topics: Gene knockdown & Microcephaly. The author has an hindex of 1, co-authored 1 publications receiving 99 citations.
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Daniela A. Braun,Jia Rao,Géraldine Mollet,Géraldine Mollet,David Schapiro,Marie Claire Daugeron,Weizhen Tan,Olivier Gribouval,Olivier Gribouval,Olivia Boyer,Olivia Boyer,Patrick Revy,Patrick Revy,Tilman Jobst-Schwan,Johanna Magdalena Schmidt,Jennifer A. Lawson,Denny Schanze,Shazia Ashraf,Jeremy F.P. Ullmann,Charlotte A. Hoogstraten,Nathalie Boddaert,Nathalie Boddaert,Bruno Collinet,Bruno Collinet,Gaëlle H. Martin,Gaëlle H. Martin,Dominique Liger,Svjetlana Lovric,Mónica Furlano,Mónica Furlano,Mónica Furlano,I. Chiara Guerrera,Oraly Sanchez-Ferras,Jennifer Hu,Anne Claire Boschat,Sylvia Sanquer,Björn Menten,Sarah Vergult,Nina De Rocker,Merlin Airik,Tobias Hermle,Shirlee Shril,Eugen Widmeier,Eugen Widmeier,Heon Yung Gee,Heon Yung Gee,Won-Il Choi,Carolin E. Sadowski,Werner L. Pabst,Jillian K. Warejko,Ankana Daga,Tamara Basta,Verena Matejas,Karin Scharmann,Karin Scharmann,Sandra D. Kienast,Sandra D. Kienast,Babak Behnam,Babak Behnam,Brendan Beeson,Amber Begtrup,Malcolm Bruce,Gaik Siew Ch’ng,Shuan-Pei Lin,Shuan-Pei Lin,Jui Hsing Chang,Chao Huei Chen,Megan T. Cho,Patrick M. Gaffney,Patrick E. Gipson,Chyong Hsin Hsu,Jameela A. Kari,Yu Yuan Ke,Cathy Kiraly-Borri,Wai Ming Lai,Emmanuelle Lemyre,Rebecca O. Littlejohn,Amira Masri,Mastaneh Moghtaderi,Kazuyuki Nakamura,Fatih Ozaltin,Marleen Praet,Chitra Prasad,Agnieszka Prytuła,Elizabeth Roeder,Patrick Rump,Rhonda E. Schnur,Takashi Shiihara,Manish D. Sinha,Neveen A. Soliman,Kenza Soulami,David A. Sweetser,Wen Hui Tsai,Jeng Daw Tsai,Jeng Daw Tsai,Jeng Daw Tsai,Rezan Topaloglu,Udo Vester,David Viskochil,Nithiwat Vatanavicharn,Jessica L. Waxler,Klaas J. Wierenga,Matthias T.F. Wolf,Sik Nin Wong,Sebastian A. Leidel,Sebastian A. Leidel,Gessica Truglio,Peter C. Dedon,Peter C. Dedon,Annapurna Poduri,Shrikant Mane,Richard P. Lifton,Richard P. Lifton,Maxime Bouchard,Peter Kannu,David Chitayat,Daniella Magen,Bert Callewaert,Herman van Tilbeurgh,Martin Zenker,Corinne Antignac,Corinne Antignac,Friedhelm Hildebrandt +122 more
TL;DR: Four new monogenic causes of GAMOS are identified, a link between KEOPS function and human disease is described, and potential pathogenic mechanisms are delineated.