Maria‐Mercè Garcia‐Barceló

机构：University of Hong Kong

发表论文 21 篇 · 总被引 840 次 · h-index 16

代表论文

• Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model (2013 · Developmental Biology · 被引 129)
• A Germline Mutation (A339V) in Thyroid Transcription Factor-1 (TITF-1/NKX2.1) in Patients With Multinodular Goiter and Papillary Thyroid Carcinoma (2009 · JNCI Journal of the National Cancer Institute · 被引 117)
• Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes (2017 · Genome biology · 被引 92)
• Identification of a HOXD13 mutation in a VACTERL patient (2008 · American Journal of Medical Genetics Part A · 被引 92)
• Fine Mapping of the NRG1 Hirschsprung's Disease Locus (2011 · PLoS ONE · 被引 52)
• Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus (2014 · Human Molecular Genetics · 被引 50)