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Merce Garcia-Barcelo
Merce Garcia-Barcelo
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Year
Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, ...
Journal of medical genetics 45 (1), 1-14, 2008
10122008
Association between telomere length and risk of cancer and non-neoplastic diseases: a Mendelian randomization study
PC Haycock, S Burgess, A Nounu, J Zheng, GN Okoli, J Bowden, ...
JAMA oncology 3 (5), 636-651, 2017
5392017
Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus
W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ...
PLoS genetics 6 (2), e1000841, 2010
4642010
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
ES Emison, M Garcia-Barcelo, EA Grice, F Lantieri, J Amiel, G Burzynski, ...
The American Journal of Human Genetics 87 (1), 60-74, 2010
2812010
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians
W Yang, H Tang, Y Zhang, X Tang, J Zhang, L Sun, J Yang, Y Cui, ...
The American Journal of Human Genetics 92 (1), 41-51, 2013
2372013
Hirschsprung's disease
SE Kenny, PKH Tam, M Garcia-Barcelo
Seminars in pediatric surgery 19 (3), 194-200, 2010
2172010
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
MM Garcia-Barcelo, CS Tang, ES Ngan, VC Lui, Y Chen, M So, TY Leon, ...
Proceedings of the National Academy of Sciences 106 (8), 2694-2699, 2009
2112009
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24. 2
MM Garcia-Barceló, MY Yeung, XP Miao, CSM Tang, G Chen, MT So, ...
Human molecular genetics 19 (14), 2917-2925, 2010
1662010
Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
MM Alves, Y Sribudiani, RWW Brouwer, J Amiel, G Antiñolo, S Borrego, ...
Developmental biology 382 (1), 320-329, 2013
1542013
Genetic basis of Hirschsprung’s disease
PKH Tam, M Garcia-Barceló
Pediatric surgery international 25, 543-558, 2009
1492009
Genetic Analysis of the CYP2D6 Locus in a Hong Kong Chinese Population
M Garcia-Barcelo, LY Chow, HFK Chiu, YK Wing, DTS Lee, KL Lam, ...
Clinical chemistry 46 (1), 18-23, 2000
1462000
Evaluation of practical chromatographic procedures for identification of clinical isolates of mycobacteria
M Luquin, V Ausina, F López Calahorra, F Belda, M García Barceló, ...
Journal of Clinical Microbiology 29 (1), 120-130, 1991
1441991
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2. 1) in patients with multinodular goiter and papillary thyroid carcinoma
ESW Ngan, BHH Lang, T Liu, CKY Shum, MT So, DKC Lau, TYY Leon, ...
Journal of the National Cancer Institute 101 (3), 162-175, 2009
1402009
Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)
SMY Lee, SKW Tsui, KK Chan, M Garcia-Barcelo, MMY Waye, KP Fung, ...
Gene 216 (1), 163-170, 1998
1191998
Identification of a HOXD13 mutation in a VACTERL patient
MM Garcia‐Barceló, KK Wong, VC Lui, Z Yuan, M So, ES Ngan, X Miao, ...
American journal of medical genetics Part A 146 (24), 3181-3185, 2008
1082008
Association study of PHOX2B as a candidate gene for Hirschsprung’s disease
M Garcia-Barcelo, MH Sham, VCH Lui, BLS Chen, J Ott, PKH Tam
Gut 52 (4), 563-567, 2003
1072003
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
M Garcia-Barcelo, RW Ganster, VCH Lui, TYY Leon, MT So, AMF Lau, ...
Human molecular genetics 14 (2), 191-204, 2005
1052005
Isolation and chromosomal mapping of human glycogen synthase kinase-3 α and-3β encoding genes
PC Shaw, AF Davies, KF Lau, M Garcia-Barcelo, MMY Waye, ...
Genome 41 (5), 720-727, 1998
971998
Common genetic variants regulating ADD3 gene expression alter biliary atresia risk
G Cheng, CSM Tang, EHM Wong, WWC Cheng, MT So, X Miao, R Zhang, ...
Journal of hepatology 59 (6), 1285-1291, 2013
952013
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
H Gui, D Schriemer, WW Cheng, RK Chauhan, G Antiňolo, C Berrios, ...
Genome biology 18, 1-13, 2017
882017
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