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30 May 2018
BMRC
Bioinformatics Institute
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes
Manuela Pigors,
John E. A. Common,
Xuan Fei Colin C. Wong,
Sajid Malik,
Claire A. Scott,
Niloofar Tabarra,
Herty Liany,
Jianjun Liu,
Vachiranee Limviphuvadh,
Sebastian Maurer-Stroh,
Mark B. Y. Tang,
Nicholas Lench,
David J. Margolis,
David A. van Heel,
Charles A. Mein,
Natalija Novak,
Hansjorg Baurecht,
Stephan Weidinger,
Erwin W. H. McLean,
Alan D. Irvine,
Edel A. O'Toole,
Michael A. Simpson,
David P. Kelsell
Journal of Investigative Dermatology
30 May 2018
BMRC
Bioinformatics Institute
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes
Manuela Pigors,
John E. A. Common,
Xuan Fei Colin C. Wong,
Sajid Malik,
Claire A. Scott,
Niloofar Tabarra,
Herty Liany,
Jianjun Liu,
Vachiranee Limviphuvadh,
Nicholas Lench,
Sebastian Maurer-Stroh,
Mark B. Y. Tang,
David J. Margolis,
David A. van Heel,
Charles A. Mein,
Natalija Novak,
Hansjorg Baurecht,
Stephan Weidinger,
W. H. Irwin McLean,
Alan D. Irvine,
Edel A. O'Toole,
Michael A. Simpson,
David P. Kelsell
Journal of Investigative Dermatology
2 Feb 2015
BMRC
Genome Institute of Singapore
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy
Hong Liu,
Astrid Irwanto,
Xi'an Fu,
Gongqi Yu,
Yongxiang Yu,
Yonghu Sun,
Chuan Wang,
Zhenzhen Wang,
Yukinori Okada,
Huiqi Low,
Yi Li,
Herty Liany,
Mingfei Chen,
Fangfang Bao,
Jinghui Li,
Jiabao You,
Qilin Zhang,
Jian Liu,
Tongsheng Chu,
Anand Kumar Andiappan,
Na Wang,
Guiye Niu,
Dianchang Liu,
Xiulu Yu,
Lin Zhang,
Hongqing Tian,
Guizhi Zhou,
Olaf Rotzschke,
Shumin Chen,
Xuejun Zhang,
Jianjun Liu,
Furen Zhang
Nature Genetics
23 Sep 2014
BMRC
Institute of Molecular and Cell Biology
Impaired Development Of Neural-Crest Cell Derived Organs and Intellectual Disability Caused By MED13L Haploinsufficiency
(Pending publish)
Kagistia Hana Utami,
Cecilia Lanny Winata,
Axel M. Hillmer,
Irene Aksoy,
Hoang Truong Long,
Herty Liany,
Elaine Chew Guo Yan,
Sinnakaruppan Mathavan,
Stacey Tay Kiat Hong,
Vladimir Korzh,
Pierre Sarda,
Sonia Davila,
Valere Cacheux
Human Mutation
1 Apr 2014
BMRC
Genome Institute of Singapore
DNAJ mutations are rare in Chinese Parkinson's disease patients and controls
Eng-King Tan,
Jia Nee Foo,
Herty Liany,
Louis C. Tan,
Wing-Lok Au,
Kumar-M. Prakash,
Jianjun Liu
Neurobiology of Aging
3 Feb 2014
BMRC
Institute of Medical Biology
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
Herty Liany,
Ishak Darryl Irwan,
Jian Liu,
Hong Liu,
Yi Li,
Ken Kwok Hon Hung,
Na Wang,
Chuan Wang,
Xuechao Chen,
Donglai Sheng,
Xi'an Fu,
Kelvin See,
Jia Nee Foo,
Huiqi Low,
Baoqi Yang,
Mingfei Chen,
Yongxiang Yu,
Gongqi Yu,
Guiye Niu,
Jiabao You,
Yan Zhou,
Shanshan Ma,
Ting Wang,
Xiaoxiao Yan,
Boon Kee Goh,
John E. A. Common,
Birgitte E. Lane,
Yonghu Sun,
Guizhi Zhou,
Xianmei Lu,
Zhenhua Wang,
Hongqing Tian,
Yuanhua Cao,
Shumin Chen,
Qiji Liu,
Jianjun Liu,
Furen Zhang
PLoS ONE
3 Feb 2014
BMRC
Genome Institute of Singapore
Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria
Na Wang,
Hong Liu,
Yi Li,
Ken Kwok Hon Hung,
Chuan Wang,
Xuechao Chen,
Donglai Sheng,
Xi’an Fu,
Kelvin See,
Jia Nee Foo,
Huiqi Low,
Herty Liany,
Ishak Darryl Irwan,
Jian Liu,
Baoqi Yang,
Mingfei Chen,
Yongxiang Yu,
Gongqi Yu,
Boon Kee Goh,
John E. A. Common,
Guiye Niu,
Jiabao You,
Yan Zhou,
Shanshan Ma,
Ting Wang,
Xiaoxiao Yan,
Birgitte E. Lane,
Yonghu Sun,
Guizhi Zhou,
Xianmei Lu,
Zhenhua Wang,
Hongqing Tian,
Yuanhua Cao,
Shumin Chen,
Qiji Liu,
Jianjun Liu,
Furen Zhang,
Mathias Toft
PLoS ONE
1 Dec 2013
BMRC
Genome Institute of Singapore
A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
Jia-Nee Foo,
Herty Liany,
Jin-Xin Bei,
Xue-Qing Yu,
Kumar M. Prakash,
Louis C. Tan,
Eng-King Tan,
Jianjun Liu,
Wing-Lok Au
Neurobiology of Aging
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