Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

by Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake
Published 2018-07-01

A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family

by Marwa Chourabi, Dorra H’mida-Ben Brahim, Carine Bonnard, Amina Aounallah, Alvin Yu Ng, Sumanty Tohari, Byrappa Venkatesh, Ali Saad, Lobna Boussofara, Bruno Reversade, Mohamed Denguezli
Published 2018-04-01

Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk.

by Kristjana Einarsdóttir, Keith Humphreys, Carine Bonnard, Juni Palmgren, Mark M Iles, Arvid Sjölander, Yuqing Li, Kee Seng Chia, Edison T Liu, Per Hall, Jianjun Liu, Sara Wedrén
Published 2006-06-01

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

by Corey J. Cain, Nathalie Gaborit, Wint Lwin, Emilie Barruet, Samantha Ho, Carine Bonnard, Hanan Hamamy, Mohammad Shboul, Bruno Reversade, Hülya Kayserili, Benoit G. Bruneau, Edward C. Hsiao
Published 2016-12-01

Generation of three human induced pluripotent stem cell lines with IRX5 knockout and knockin genetic editions using CRISPR-Cas9 system

by Robin Canac, Amandine Caillaud, Bastien Cimarosti, Aurore Girardeau, Hanan Hamamy, Bruno Reversade, Carine Bonnard, Zeina R. Al Sayed, Laurent David, Jeremie Poschmann, Patricia Lemarchand, Guillaume Lamirault, Nathalie Gaborit
Published 2022-01-01

Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility.

by Yen Ling Low, Yuqing Li, Keith Humphreys, Anbupalam Thalamuthu, Yi Li, Hatef Darabi, Sara Wedrén, Carine Bonnard, Kamila Czene, Mark M Iles, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, Heli Nevanlinna, Per Hall, Edison T Liu, Jianjun Liu
Published 2010-07-01

Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis.

by Sonia Davila, Martin L Hibberd, Ranjeeta Hari Dass, Hazel E E Wong, Edhyana Sahiratmadja, Carine Bonnard, Bachti Alisjahbana, Jeffrey S Szeszko, Yanina Balabanova, Francis Drobniewski, Reinout van Crevel, Esther van de Vosse, Sergey Nejentsev, Tom H M Ottenhoff, Mark Seielstad
Published 2008-10-01

A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects

by Geetika Sahni, Shu‐Yung Chang, Jeremy Choon Meng Teo, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hülya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi‐Chin Toh
Published 2021-07-01

A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects

by Geetika Sahni, Shu‐Yung Chang, Jeremy Teo Choon Meng, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hülya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi‐Chin Toh
Published 2021-03-01

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

by Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
Published 2018-05-01

A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.

by David Burgner, Sonia Davila, Willemijn B Breunis, Sarah B Ng, Yi Li, Carine Bonnard, Ling Ling, Victoria J Wright, Anbupalam Thalamuthu, Miranda Odam, Chisato Shimizu, Jane C Burns, Michael Levin, Taco W Kuijpers, Martin L Hibberd, International Kawasaki Disease Genetics Consortium
Published 2009-01-01

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

by Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade
Published 2023-02-01

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by 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, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, 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, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
Published 2020-01-01