Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus

Wanling Yang, Nan Shen, Dong‐Qing Ye, +27

PLoS Genetics

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Kit San Yeung, Winnie W. Y. Tso, Janice Jing Kun Ip, +8

Molecular Autism

HLAreporter: a tool for HLA typing from next generation sequencing data

Yazhi Huang, Jing Yang, Dingge Ying, +5

Genome Medicine

BiologyBioinformaticsLong-read SequencingNext GenerationSequencing +13

PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data

Lu Zhang, Jing Zhang, Jing Yang, +2

Bioinformatics

cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes

Mulin Jun Li, Miaoxin Li, Zipeng Liu, +13

Genome biology

Context-dependent Epigenomic WeightingDisease-associated GenesRegulatory VariantsGeneticsGenetic Epidemiology +19

Prenatal Tobacco Exposure Shortens Telomere Length in Children

Patrick Ip, Brian Hon‐Yin Chung, Frederick K. Ho, +7

Nicotine & Tobacco Research

Compound heterozygous mutations in <scp>TTC7A</scp> cause familial multiple intestinal atresias and severe combined immunodeficiency

Wanling Yang, Pamela Lee, Meow‐Keong Thong, +9

Clinical Genetics

ImmunodeficienciesGeneticsImmunologyGenetic EpidemiologyPathology +14

Epistatic Interaction between Genetic Variants in Susceptibility Gene <i>ETS1</i> Correlates with IL‐17 Levels in SLE Patients

Jing Zhang, Yan Zhang, Lu Zhang, +18

Annals of Human Genetics

<i><scp>CFTR</scp></i> founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

Gordon K. C. Leung, Dingge Ying, Christopher Chun Yu Mak, +17

Molecular Genetics & Genomic Medicine

Homozygosity mapping on a single patient—identification of homozygous regions of recent common ancestry by using population data

Lu Zhang, Wanling Yang, Dingge Ying, +3

Human Mutation

Genetic TestingGeneticsGenetic EpidemiologyLinkage AnalysisPopulation Data +19