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Benno Röthlisberger
Publications - 4
Citations - 316
Benno Röthlisberger is an academic researcher. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 4, co-authored 4 publications receiving 261 citations.
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Journal ArticleDOI
New insights into the performance of human whole-exome capture platforms
Janine Meienberg,Katja Zerjavic,Irene Keller,Michal J. Okoniewski,Andrea Patrignani,Katja Ludin,Zhenyu Xu,Beat Steinmann,Thierry Carrel,Benno Röthlisberger,Ralph Schlapbach,Rémy Bruggmann,Gabor Matyas +12 more
TL;DR: In this article, the performance of the most recent standard exome enrichment platforms from Agilent, NimbleGen and Illumina applied to six different DNA samples by two sequencing vendors per platform.
Journal ArticleDOI
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert,Wayne A. Cabral,Surasawadee Ausavarat,Surasawadee Ausavarat,Surasawadee Ausavarat,Siraprapa Tongkobpetch,Siraprapa Tongkobpetch,Katja Ludin,Aileen M. Barnes,Patra Yeetong,Patra Yeetong,MaryAnn Weis,Birgit Krabichler,Chalurmpon Srichomthong,Chalurmpon Srichomthong,Elena Makareeva,Andreas R. Janecke,Sergey Leikin,Benno Röthlisberger,Marianne Rohrbach,Ingo Kennerknecht,David R. Eyre,Kanya Suphapeetiporn,Kanya Suphapeetiporn,Cecilia Giunta,Joan C. Marini,Vorasuk Shotelersuk,Vorasuk Shotelersuk +27 more
TL;DR: An X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P) is identified, providing evidence that RIP plays a fundamental role in normal bone development.
Journal ArticleDOI
Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients
Ettore Capoluongo,Gillian Ellison,José Antonio López-Guerrero,Frédérique Penault-Llorca,Marjolijn J. L. Ligtenberg,Susana Banerjee,Christian F. Singer,Eitan Friedman,Birgid Markiefka,Peter Schirmacher,Reinhard Büttner,Christi J. van Asperen,Isabelle Ray-Coquard,Volker Endris,Suzanne Kamel-Reid,Natalie Percival,Jane Bryce,Benno Röthlisberger,Richie Soong,David Gonzalez de Castro +19 more
TL;DR: The current manuscript reviews some of challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRC a/2 mutations.
Journal ArticleDOI
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Gillian Ellison,Miika Ahdesmaki,Sally Luke,Paul Waring,Andrew J Wallace,Ronnie Wright,Benno Röthlisberger,Katja Ludin,Sabine Merkelbach-Bruse,Carina Heydt,Marjolijn J. L. Ligtenberg,Arjen R. Mensenkamp,David Gonzalez de Castro,David Gonzalez de Castro,Thomas Jones,Ana Vivancos,Olga Kondrashova,Patrick Pauwels,Christine Weyn,Eric Hahnen,Jan Hauke,Richie Soong,Zhongwu Lai,Brian Dougherty,T. Hedley Carr,Justin Johnson,John Mills,J. Carl Barrett +27 more
TL;DR: The study highlights the importance of establishing standards and standardization for tBRCA testing particularly when the test results dictate clinical decisions regarding life extending therapies.