Maria‐Mercè Garcia‐Barceló

A Germline Mutation (A339V) in Thyroid Transcription Factor-1 (TITF-1/NKX2.1) in Patients With Multinodular Goiter and Papillary Thyroid Carcinoma

Brian Hung‐Hin Lang, Tingting Liu, Cathy K.Y. Shum et al. · JNCI Journal of the National Cancer Institute · 2009 · 115 citations

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

Maria‐Mercè Garcia‐Barceló, Kenneth Kak‐Yuen Wong, Vincent Chi‐Hang Lui et al. · American Journal of Medical Genetics Part A · 2008 · 92 citations

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Hongsheng Gui, Duco Schriemer, William Cheng et al. · Genome biology · 2017 · 91 citations · Full text

Fine Mapping of the NRG1 Hirschsprung's Disease Locus

Clara Sze-Man Tang, Wai-Kiu Tang, Man-Ting So et al. · PLoS ONE · 2011 · 52 citations · Full text

Genetics, Genetic Epidemiology, Pathology +22

Genome-wide copy number variation study in anorectal malformations

Emily Wong, Long Cui, Roy Chun-Laam Ng et al. · Human Molecular Genetics · 2012 · 25 citations · Full text