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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
8 Jul 2019
BMRC
Institute of Molecular and Cell Biology
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features
Amin Ziaei,
Xiaohong Xu,
Leila Dehghani,
Carine Bonnard,
Andreas Zellner,
Alvin Yu Jin Ng,
Sumanty Tohari,
Byrappa Venkatesh,
Christof Haffner,
Bruno Reversade,
Vahid Shaygannejad,
Mahmoud A. Pouladi
Neurology Genetics
24 Jul 2018
BMRC
Institute of Molecular and Cell Biology
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
Dineshani Hettiaracchchi,
Carine Bonnard,
S. M. A. Jayawardana,
Alvin Yu Jin Ng,
Sumanty Tohari,
Byrappa Venkatesh,
Bruno Reversade,
Roshni Singaraja,
V. H. W. Dissanayake
BMC Medical Genetics
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
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)
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
26 Jan 2011
BMRC
Genome Institute of Singapore
Genetic variation of ESR1 and its co-activator PPARGC1B is synergistic in augmenting the risk of estrogen receptor-positive breast cancer
Sara Wedrén,
Guoliang Li,
Yuqing Li,
Yi Li,
Tze Howe Charn,
Kartiki Vasant Desai,
Carine Bonnard,
Kamila Czene,
Keith Humphreys,
Hatef Darabi,
Kristjana Einarsdóttir,
Tuomas Heikkinen,
Kristiina Aittomaki,
Carl Blomqvist,
Kee Seng Chia,
Heli Nevanlinna,
Per Hall,
Edison T Liu,
Jianjun Liu
Breast Cancer Research
1 Jul 2010
BMRC
Genome Institute of Singapore
Multi-Variant Pathway Association Analysis Reveals the Importance of Genetic Determinants of Estrogen Metabolism in Breast and Endometrial Cancer Susceptibility
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 Aittomaki,
Carl Blomqvist,
Heli Nevanlinna,
Per Hall,
Edison T. Liu,
Jianjun Liu,
Kathleen Kerr
PLoS Genetics
9 Jan 2009
BMRC
Genome Institute of Singapore
A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease
Victoria J. Wright,
Anbupalam Thalamuthu,
Miranda Odam,
Chisato Shimizu,
Jane C. Burns,
Carine Bonnard,
Ling Ling,
David Burgner,
Sonia Davila,
Willemijn B. Breunis,
Sarah B. Ng,
Yi Li,
Michael Levin,
Taco W. Kuijpers,
Martin L. Hibberd,
Greg Gibson
PLoS Genetics
10 Oct 2008
BMRC
Genome Institute of Singapore
Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis
Carine Bonnard,
Sonia Davila,
Martin L. Hibberd,
Ranjeeta Hari Dass,
Hazel E. E. Wong,
Edhyana Sahiratmadja,
Bachti Alisjahbana,
Jeffrey S. Szeszko,
Yanina Balabanova,
Tom H. M. Ottenhoff,
Mark Seielstad,
Francis Drobniewski,
Reinout van Crevel,
Esther van de Vosse,
Sergey Nejentsev,
Takashi Gojobori
PLoS Genetics
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