Search results

Publication date Communities Collections Article title Author(s) Journal/Conference
10 Apr 2025 BMRC Genome Institute of Singapore FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature Navin B. Ramakrishna, Umar Bin Mohamad Sahari, Yoshikazu Johmura, Nur Ain Ali, Malak Alghamdi, Peter Bauer, Suliman Khan, Natalia Ordoñez, Mariana Ferreira, Jorge Pinto Basto, Fowzan S. Alkuraya, Eissa Ali Faqeih, Mari Mori, Naif A.M. Almontashiri, Aisha Al Shamsi, Gehad ElGhazali, Hala Abu Subieh, Mode Al Ojaimi, Ayman W. El-Hattab, Said Ahmed Said Al-Kindi, Nadia Alhashmi, Fahad Alhabshan, Abdulaziz Al Saman, Hala Tfayli, Mariam Arabi, Simone Khalifeh, Alan Taylor, Majid Alfadhel, Ruchi Jain, Shruti Sinha, Shruti Shenbagam, Revathy Ramachandran, Umut Altunoglu, Anju Jacob, Nandu Thalange, Mireille El Bejjani, Arnaud Perrin, Jay W. Shin, Almundher Al-Maawali, Azza Al-Shidhani, Amna Al-Futaisi, Fatma Rabea, Ikram Chekroun, Mohamed A. Almarri, Tomohiko Ohta, Makoto Nakanishi, Alawi Alsheikh-Ali, Fahad R. Ali, Aida M. Bertoli-Avella, Bruno Reversade, Ahmad Abou Tayoun The American Journal of Human Genetics
5 Dec 2023 BMRC Genome Institute of Singapore Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity Hamdi Mbarek, Scott D Gordon, David L Duffy, Nikki Hubers, Sally Mortlock, Jeffrey J Beck, Jouke-Jan Hottenga, René Pool, Conor V Dolan, Ky’Era V Actkins, Zachary F Gerring, Jenny van Dongen, Erik A Ehli, William G Iacono, Matt Mcgue, Daniel I Chasman, C Scott Gallagher, Samantha L P Schilit, Cynthia C Morton, Guillaume Paré, Gonneke Willemsen, David C Whiteman, Catherine M Olsen, Catherine Derom, Robert Vlietinck, Daniel Gudbjartsson, Lisa Cannon-Albright, Eva Krapohl, Robert Plomin, Patrik K E Magnusson, Nancy L Pedersen, Pirro Hysi, Massimo Mangino, Timothy D Spector, Teemu Palviainen, Yuri Milaneschi, Brenda W Penninnx, Adrian I Campos, Ken K Ong, John R B Perry, Cornelis B Lambalk, Jaakko Kaprio, Ísleifur Ólafsson, Karine Duroure, Céline Revenu, Miguel E Rentería, Loic Yengo, Lea Davis, Eske M Derks, Sarah E Medland, Hreinn Stefansson, Kari Stefansson, Filippo Del Bene, Bruno Reversade, Grant W Montgomery, Dorret I Boomsma, Nicholas G Martin Human Reproduction
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 Nature Communications
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
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 Proceedings of the National Academy of Sciences of the United States of America
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 Stem Cell Research
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
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 Nucleic Acids Research
5 Dec 2018 BMRC Institute of Molecular and Cell Biology Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding Franklin L. Zhong, Kim Robinson, Daniel Eng Thiam Teo, Kiat-Yi Tan, Chrissie Lim, Cassandra R. Harapas, Chien-Hsiung Yu, William H. Xie, Radoslaw M. Sobota, Veonice Bijin Au, Richard Hopkins, Andrea D'Osualdo, John C. Reed, John E. Connolly, Seth L. Masters, Bruno Reversade Journal of Biological Chemistry
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 Nature Communications