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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 (Pending publish) 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
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
28 Dec 2017 BMRC Institute of Molecular and Cell Biology KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J. Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michaël Wiederkehr, Caroline F. Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M. Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond, Alexandre Reymond The American Journal of Human Genetics
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 Neuron