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30 Jan 2020 BMRC Institute of Molecular and Cell Biology Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Bruno Reversade, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls
8 Jul 2019 BMRC Institute of Molecular and Cell Biology Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features Amin Ziaei, Xiaohong Xu, Leila Dehghani, Carine Bonnard, Andreas Zellner, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Christof Haffner, Bruno Reversade, Vahid Shaygannejad, Mahmoud A. Pouladi
24 Jul 2018 BMRC Institute of Molecular and Cell Biology Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake
7 Sep 2017 BMRC Institute of Molecular and Cell Biology CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays Katharina Roetzer, Paul Roschger, Klaus Klaushofer, Janine Altmüller, Sudipto Roy, Byrappa Venkatesh, Rudolf Ganger, Franz Grill, Christian Windpassinger, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Verena Rupp, Stéphane Blouin, Nur’Ain B. Ali, Alvin Yu Jin Ng, Hao Lu, Sumanty Tohari, S. Zakiah A. Talib, Noémi van Hul, Matias J. Caldez, Lionel Van Maldergem, Gökhan Yigit, Hulya Kayserili, Sameh A. Youssef, Vincenzo Coppola, Alain de Bruin, Lino Tessarollo, Hyungwon Choi, Farid Ben Chehida, Bernd Wollnik, Umut Altunoglu, Ali Al Kaissi, Bruno Reversade, Philipp Kaldis
17 Dec 2014 BMRC Institute of Medical Biology Katanin p80 regulates human cortical development by limiting centriole and cilia number Mohammed Al-Dosari, Anas Alazami, Mohammed Alowain, Fowzan S. Alkuraya, Jeremy F. Reiter, Matthew P. Harris, Bruno Reversade, Christopher A. Walsh, Wen F. Hu, Oz Pomp, Tawfeg Ben-Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N. Partlow
26 Jan 2011 BMRC Genome Institute of Singapore Genetic variation of ESR1 and its co-activator PPARGC1B is synergistic in augmenting the risk of estrogen receptor-positive breast cancer Sara Wedrén, Guoliang Li, Yuqing Li, Yi Li, Tze Howe Charn, Kartiki Vasant Desai, Carine Bonnard, Kamila Czene, Keith Humphreys, Hatef Darabi, Kristjana Einarsdóttir, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Kee Seng Chia, Heli Nevanlinna, Per Hall, Edison T Liu, Jianjun Liu
1 Jul 2010 BMRC Genome Institute of Singapore Multi-Variant Pathway Association Analysis Reveals the Importance of Genetic Determinants of Estrogen Metabolism in Breast and Endometrial Cancer Susceptibility Yen Ling Low, Yuqing Li, Keith Humphreys, Anbupalam Thalamuthu, Yi Li, Hatef Darabi, Sara Wedrén, Carine Bonnard, Kamila Czene, Mark M. Iles, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Heli Nevanlinna, Per Hall, Edison T. Liu, Jianjun Liu, Kathleen Kerr
9 Jan 2009 BMRC Genome Institute of Singapore A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease Victoria J. Wright, Anbupalam Thalamuthu, Miranda Odam, Chisato Shimizu, Jane C. Burns, Carine Bonnard, Ling Ling, David Burgner, Sonia Davila, Willemijn B. Breunis, Sarah B. Ng, Yi Li, Michael Levin, Taco W. Kuijpers, Martin L. Hibberd, Greg Gibson
10 Oct 2008 BMRC Genome Institute of Singapore Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis Carine Bonnard, Sonia Davila, Martin L. Hibberd, Ranjeeta Hari Dass, Hazel E. E. Wong, Edhyana Sahiratmadja, Bachti Alisjahbana, Jeffrey S. Szeszko, Yanina Balabanova, Tom H. M. Ottenhoff, Mark Seielstad, Francis Drobniewski, Reinout van Crevel, Esther van de Vosse, Sergey Nejentsev, Takashi Gojobori