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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 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
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 American Journal of Human Genetics (AJHG)