Genome-wide association study identifies <i>NRG1</i> as a susceptibility locus for Hirschsprung's disease

María-Mercé García-Barceló, Clara Sze-Man Tang, Vincent Chi‐Hang Lui, +19

Proceedings of the National Academy of Sciences

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

María-Mercé García-Barceló, Ming-Yiu Yeung, Xiaoping Miao, +18

Human Molecular Genetics

Common genetic variants regulating ADD3 gene expression alter biliary atresia risk

Guo Cheng, Clara Sze-Man Tang, Emily Hoi-Man Wong, +28

Journal of Hepatology

Allelic VariantGenetic DisorderMedicineGeneticsGenetic Epidemiology +10

Identification of a <i>HOXD13</i> mutation in a VACTERL patient

Maria‐Mercè Garcia‐Barceló, Kenneth Kak‐Yuen Wong, Vincent Chi‐Hang Lui, +5

American Journal of Medical Genetics Part A

Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans

María-Mercé García-Barceló, Benjamin Hon Kei Yip, Hiu-Ching Poon, +10

Journal of Clinical Investigation

PathologyDisease Gene IdentificationHscr Susceptibility GenesSignaling PathwayEpendyma +16

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

Clara Sze-Man Tang, Guo Cheng, Man‐Ting So, +15

PLoS Genetics

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

Wai-Yee Lam, Clara Sze-Man Tang, Man‐Ting So, +15

EBioMedicine

Highly Recurrent RET Mutations and Novel Mutations in Genes of the Receptor Tyrosine Kinase and Endothelin Receptor B Pathways in Chinese Patients with Sporadic Hirschsprung Disease

Mercè Garcia-Barceló, Wing‐Shan Lee, Vincent Chi‐Hang Lui, +4

Clinical Chemistry

Fine Mapping of the NRG1 Hirschsprung's Disease Locus

Clara Sze-Man Tang, Wai-Kiu Tang, Man-Ting So, +14

PLoS ONE

GeneticsGenetic EpidemiologyPathologyGene CharacterizationMolecular Genetics +20

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease

Xiaoping Miao, Thomas Yuk-Yu Leon, Man‐Ting So, +6

Human Molecular Genetics