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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 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
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 The American Journal of Human Genetics