Maria‐Mercè Garcia‐Barceló

University of Hong Kong — Hong Kong

Medicine · Health Sciences

16h-index1.1kcitations22works3.02yr avg
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Research Topics

Congenital gastrointestinal and neural anomalies(14), Digestive system and related health(5), Systemic Lupus Erythematosus Research(4), Genomic variations and chromosomal abnormalities(3), Cytokine Signaling Pathways and Interactions(3)

Publications22 total

Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung disease
EBioMedicine·2025· 3 citedOpen Access
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Genome biology·2017· 91 citedOpen Access
Sacral agenesis: a pilot whole exome sequencing and copy number study
BMC Medical Genetics·2016· 17 citedOpen Access
<i>Trans</i>-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
Human Molecular Genetics·2016· 43 citedOpen Access
Genetics of enteric neuropathies
Developmental Biology·2016· 49 citedOpen Access
Gene‐Based Meta‐Analysis of Genome‐Wide Association Study Data Identifies Independent Single‐Nucleotide Polymorphisms in <i>ANXA6</i> as Being Associated With Systemic Lupus Erythematosus in Asian Populations
Arthritis & Rheumatology·2015· 15 citedOpen Access
Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism
BMC Medical Genetics·2015· 17 citedOpen Access
Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus
Human Molecular Genetics·2014· 49 citedOpen Access
Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling
Annals of Human Genetics·2014· 9 citedOpen Access
HOXB5 binds to multi-species conserved sequence (MCS+9.7) of RET gene and regulates RET expression
The International Journal of Biochemistry & Cell Biology·2014· 19 cited
Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians
Human Molecular Genetics·2013· 35 cited
Gene Network Analysis of Candidate Loci for Human Anorectal Malformations
PLoS ONE·2013· 15 citedOpen Access
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia
PLoS ONE·2013· 18 citedOpen Access
Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
Developmental Biology·2013· 128 cited
Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians
The American Journal of Human Genetics·2012· 226 citedOpen Access
Genome-wide copy number variation study in anorectal malformations
Human Molecular Genetics·2012· 25 citedOpen Access
Functional analyses of <i>RET</i> mutations in Chinese hirschsprung disease patients
Birth Defects Research Part A Clinical and Molecular Teratology·2011· 3 cited
Fine Mapping of the NRG1 Hirschsprung's Disease Locus
PLoS ONE·2011· 52 citedOpen Access
A Germline Mutation (A339V) in Thyroid Transcription Factor-1 (TITF-1/NKX2.1) in Patients With Multinodular Goiter and Papillary Thyroid Carcinoma
JNCI Journal of the National Cancer Institute·2009· 115 cited
Identification of a <i>HOXD13</i> mutation in a VACTERL patient
American Journal of Medical Genetics Part A·2008· 92 cited
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Frequent Co-authors

Stacey S. Cherny(15), Pak C. Sham(14), Paul Kwong-Hang Tam(10), Esw Ngan(8), Man-Ting So(7), Vincent Chi‐Hang Lui(7), Clara Sze-Man Tang(7), Wanling Yang(5), Xuejun Zhang(5), YL Lau(5), Salud Borrego(5), Isabella Ceccherini(5), Paul Kwong Hang Tam(5), Robert M.W. Hofstra(5), Man‐Ting So(5), Xiaoping Miao(5), Liangdan Sun(4), Jing Yang(4), Lu Zhang(4), Nattiya Hirankarn(4)