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Publication date Communities Collections Article title Author(s) Journal/Conference
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 Nature Communications
23 Jan 2020 BMRC Institute of Molecular and Cell Biology Oxygenation properties of hemoglobin and the evolutionary origins of isoform multiplicity in an amphibious air-breathing fish, the blue-spotted mudskipper (Boleophthalmus pectinirostris) Jay F. Storz, Chandrasekhar Natarajan, Magnus K. Grouleff, Michael Vandewege, Federico G. Hoffmann, Xinxin You, Byrappa Venkatesh, Angela Fago Journal of Experimental Biology
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 Neurology Genetics
19 Oct 2018 BMRC Institute of Molecular and Cell Biology Retention of fatty acyl desaturase 1 (fads1) in Elopomorpha and Cyclostomata provides novel insights into the evolution of long-chain polyunsaturated fatty acid biosynthesis in vertebrates Mónica Lopes-Marques, Naoki Kabeya, Yu Qian, Raquel Ruivo, Miguel M. Santos, Byrappa Venkatesh, Douglas R. Tocher, L. Filipe C. Castro, Óscar Monroig BMC Evolutionary Biology
6 Sep 2018 BMRC Institute of Molecular and Cell Biology Characterization of Gonadotropin-Releasing Hormone (GnRH) Genes From Cartilaginous Fish: Evolutionary Perspectives Anne-Laure Gaillard, Boon-Hui Tay, Daniela I. Pérez Sirkin, Anne-Gaëlle Lafont, Céline De Flori, Paula G. Vissio, Sylvie Mazan, Sylvie Dufour, Byrappa Venkatesh, Hervé Tostivint Frontiers in Neuroscience
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 BMC Medical Genetics
19 Mar 2018 BMRC Institute of Molecular and Cell Biology Expansions, diversification, and interindividual copy number variations of AID/APOBEC family cytidine deaminase genes in lampreys Stephen J. Holland, Lesley M. Berghuis, Justin J. King, Lakshminarayan M. Iyer, Katarzyna Sikora, Heather Fifield, Sarah Peter, Emma M. Quinlan, Fumiaki Sugahara, Prashant Shingate, Inês Trancoso, Norimasa Iwanami, Elena Temereva, Christine Strohmeier, Shigeru Kuratani, Byrappa Venkatesh, Guillaume Evanno, L. Aravind, Michael Schorpp, Mani Larijani, Thomas Boehm Proceedings of the National Academy of Sciences of the United States of America
15 Feb 2018 BMRC Institute of Molecular and Cell Biology The Divergent Genomes of Teleosts Vydianathan Ravi, Byrappa Venkatesh Annual Review of Animal Biosciences
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 Proceedings of the Royal Society B: Biological Sciences
26 Sep 2017 BMRC Institute of Molecular and Cell Biology Priming of lineage-specifying genes by Bcl11b is required for lineage choice in post-selection thymocytes Satoshi Kojo, Hirokazu Tanaka, Takaho A. Endo, Sawako Muroi, Ye Liu, Wooseok Seo, Mari Tenno, Kiyokazu Kakugawa, Yoshinori Naoe, Krutula Nair, Kazuyo Moro, Yoshinori Katsuragi, Akinori Kanai, Toshiya Inaba, Takeshi Egawa, Byrappa Venkatesh, Aki Minoda, Ryo Kominami, Ichiro Taniuchi Nature Communications