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Publication date Communities Collections Article title Author(s)
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
27 Sep 2017 BMRC Institute of Molecular and Cell Biology Voltage-gated sodium channel gene repertoire of lampreys: gene duplications, tissue-specific expression and discovery of a long-lost gene Harold H. Zakon, Weiming Li, Nisha E. Pillai, Sumanty Tohari, Prashant Shingate, Jianfeng Ren, Byrappa Venkatesh
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
5 Nov 2015 BMRC Institute of Molecular and Cell Biology Cyclostomes Lack Clustered Protocadherins Sydney Brenner, Wei-Ping Yu, Nisha E. Pillai, Michelle M. Lian, Boon-Hui Tay, Sumanty Tohari, Vydianathan Ravi, Byrappa Venkatesh
8 Jan 2014 BMRC Molecular Engineering Laboratory Elephant shark genome provides unique insights into gnathostome evolution Byrappa Venkatesh, Alison P. Lee, Vydianathan Ravi, Ashish K. Maurya, Michelle M. Lian, Jeremy B. Swann, Yuko Ohta, Martin F. Flajnik, Yoichi Sutoh, Masanori Kasahara, Shawn Hoon, Vamshidhar Gangu, Scott W. Roy, Manuel Irimia, Vladimir Korzh, Igor Kondrychyn, Zhi Wei Lim, Boon-Hui Tay, Sumanty Tohari, Kiat Whye Kong, Shufen Ho, Belen Lorente-Galdos, Javier Quilez, Tomas Marques-Bonet, Brian J. Raney, Philip W. Ingham, Alice Tay, LaDeana W. Hillier, Patrick Minx, Thomas Boehm, Richard K. Wilson, Sydney Brenner, Wesley C. Warren