Search results

Publication date Communities Collections Article title Author(s)
11 Mar 2020 BMRC Institute of Molecular and Cell Biology Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly Shan Zhang, Boris Reljić, Chao Liang, Baptiste Kerouanton, Joel Celio Francisco, Jih Hou Peh, Camille Mary, Narendra Suhas Jagannathan, Volodimir Olexiouk, Claire Tang, Gio Fidelito, Srikanth Nama, Ruey-Kuang Cheng, Caroline Lei Wee, Loo Chien Wang, Paula Duek Roggli, Prabha Sampath, Lydie Lane, Enrico Petretto, Radoslaw M. Sobota, Suresh Jesuthasan, Lisa Tucker-Kellogg, Bruno Reversade, Gerben Menschaert, Lei Sun, David A. Stroud, Lena Ho
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
4 Sep 2019 BMRC Institute of Molecular and Cell Biology Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis Scott B. Drutman, Filomeen Haerynck, Franklin L. Zhong, David Hum, Nicholas J. Hernandez, Serkan Belkaya, Franck Rapaport, Sarah Jill de Jong, David Creytens, Simon J. Tavernier, Katrien Bonte, Sofie De Schepper, Jutte van der Werff ten Bosch, Lazaro Lorenzo-Diaz, Andy Wullaert, Xavier Bossuyt, Gérard Orth, Vincent R. Bonagura, Vivien Béziat, Laurent Abel, Emmanuelle Jouanguy, Bruno Reversade, Jean-Laurent Casanova
9 Aug 2019 BMRC Institute of Molecular and Cell Biology Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2 Ruizhu Zenga, Harwin Sidika, Kim S. Robinson, Franklin L. Zhong, Bruno Reversade, Mahmoud A. Pouladi
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
30 Jan 2019 BMRC Institute of Molecular and Cell Biology SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite Camille Dion, Stéphane Roche, Camille Laberthonnière, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D. Gurzau, Agnieszka Nowak, Christopher T. Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binetruy, Emmanuelle Salort Campana, Shahram Attarian, Rafaelle Bernard, Karine Nguyen, Jeanne Amiel, Julie Dumonceaux, James M. Murphy, Jérôme Déjardin, Marnie E. Blewitt, Bruno Reversade, Jérôme D. Robin, Frédérique Magdinier
26 Nov 2018 BMRC Institute of Molecular and Cell Biology Structural basis of RIP2 activation and signaling Qin Gong, Ziqi Long, Franklin L. Zhong, Daniel Eng Thiam Teo, Yibo Jin, Zhan Yin, Zhao Zhi Boo, Yaming Zhang, Jiawen Zhang, Renliang Yang, Shashi Bhushan, Bruno Reversade, Zongli Li, Bin Wu
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
1 Jun 2018 BMRC Institute of Molecular and Cell Biology FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function Alexandra D. Gurzau, Kelan Chen, Shifeng Xue, Weiwen Dai, Isabelle S. Lucet, Thanh Thao Nguyen Ly, Bruno Reversade, Marnie E. Blewitt, James M. Murphy
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
19 Nov 2015 BMRC Institute of Molecular and Cell Biology Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program Feng Zhou, Mohammad Shboul, Yan Ling Chong, Bruno Reversade, Sudipto Roy, Vijay Narasimhan
17 Sep 2015 BMRC Institute of Medical Biology ELABELA Is an Endogenous Growth Factor that Sustains hESC Self-Renewal via the PI3K/AKT Pathway Lena Ho, Shawn Y.X. Tan, Sheena Wee, Yixuan Wu, Sam J.C. Tan, Navin B. Ramakrishna, Serene C. Chng, Srikanth Nama, Iwona Szczerbinska, Yun-Shen Chan, Stuart Avery, Norihiro Tsuneyoshi, Huck Hui Ng, Jayantha Gunaratne, N. Ray Dunn, Bruno Reversade
27 Aug 2015 BMRC Institute of Molecular and Cell Biology Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Paulina Bahena, Sara L. Reichert, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Stefan Mundlos, Uwe Kornak, Peter N. Robinson, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade
22 Apr 2015 BMRC Institute of Molecular and Cell Biology Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders Robert Brown, Hane Lee, Ascia Eskin, Gleb Kichaev, Kirk E Lohmueller, Bruno Reversade, Stanley F Nelson, Bogdan Pasaniuc
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
22 Jul 2014 BMRC Institute of Medical Biology Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions Ons Mamai, Lobna Boussofara, Mohamed Denguezli, Nathalie Escande-Beillard, Wahiba Kraeim, Barry Merriman, Ilhem Ben Charfeddine, Giovanni Stevanin, Sana Bouraoui, Abdelbasset Amara, Amira Mili, Rafiaa Nouira, Dorra H'mida, Badreddine Sriha, Moez Gribaa, Ali Saad, Bruno Reversade
23 Dec 2013 BMRC Institute of Medical Biology ELABELA: A Hormone Essential for Heart Development Signals via the Apelin Receptor Serene C. Chng, Lena Ho, Jing Tian, Bruno Reversade
2 Dec 2010 BMRC Institute of Medical Biology Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian O'Connor, Barry Merriman, Stanley F. Nelson, Simon Cool, Osama H. Ababneh, Azmy Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade