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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
2 Jan 2025 BMRC Bioinformatics Institute CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans (Pending publish) Emmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, Maya Chopra, Muznah Khatoo, Beatrice Pak, Wei Xuan Goh, Anja Beckers, Angela F. Brady, Lisa J. Ewans, Nabila Djaziri, Naif A.M. Almontashiri, Malak Ali Alghamdi, Essa Alharby, Majed Dasouki, Lindsay Romo, Wen-Hann Tan, Sateesh Maddirevula, Fowzan S. Alkuraya, Jessica L. Giordano, Anna Alkelai, Ronald J. Wapner, Karen Stals, Majid Alfadhel, Abdulrahman Faiz Alswaid, Susanne Bogusch, Anna Schafer-Kosulya, Sebastian Vogel, Philipp Vick, Axel Schweickert, Matthew Wakeling, Anne Moreau de Bellaing, Aisha M. Alshamsi, Damien Sanlaville, Hamdi Mbarek, Chadi Saad, Sian Ellard, Frank Eisenhaber, Kornelia Tripolszki, Christian Beetz, Peter Bauer, Achim Gossler, Birgit Eisenhaber, Martin Blum, Patrice Bouvagnet, Aida Bertoli-Avella, Jeanne Amiel, Christopher T. Gordon, Bruno Reversade The American Journal of Human Genetics