2019
Incomplete genetic reconstitution of B cell pools contributes to prolonged immunosuppression after measles.
Petrova VN, Sawatsky B, Han AX, Laksono BM, et al.,
Science immunology. 2019 Nov 1;4(41).
HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn's Disease.
Sazonovs A, Kennedy NA, Moutsianas L, Heap GA, et al.
Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System.
Goode EC, Clark AB, Mells GF, Srivastava B, Spiess K, et al.
Hepatology. 2019 69(5)2120-2135
Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease.
Walker GJ, Harrison JW, Heap GA, Voskuil MD, et al.
JAMA. 2019 321(8):773-785
2018
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Cangul H, Liao XH, Schoenmakers E, Kero J, et al.,
JCI Insight. 2018 Oct 18;3(20).
Combined Influence of B-Cell Receptor Rearrangement and Somatic Hypermutation on B-Cell Class-Switch Fate in Health and in Chronic Lymphocytic Leukemia.
Petrova VN, Muir L, McKay PF, Vassiliou GS, et al.,
Front Immunol. 2018 Aug 10;9:1784.
Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease.
Quaranta M, Wilson R, Gonçalves Serra E, Pandey S, et al.,
Gastroenterology. 2018 Jul;155(1):231-234.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA, Avila BE, Koskela J, Huang H, et al.,
PLoS Genet. 2018 May 24;14(5):e1007329.
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
Schwerd T, Bryant RV, Pandey S, Capitani M, et al.,
Mucosal Immunol. 2018 Mar;11(2):562-574.
Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.
Alberts R, de Vries EMG, Goode EC, Jiang X, et al.,
Gut. 2018 Aug;67(8):1517-1524.
2017
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Huang H, Fang M, Jostins L, Umićević Mirkov M, Boucher G et al.
Nature 2017;547;7662;173-178
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
Luo Y, de Lange KM, Jostins L, Moutsianas L, Randall J et al.
Nature genetics 2017;49;2;186-192
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
de Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y et al.
Nature genetics 2017;49;2;256-261
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L et al.
Nature genetics 2017;49;2;269-273
Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease.
Lee JC, Biasci D, Roberts R, Gearry RB, Mansfield JC et al.
Nature genetics 2017;49;2:262-268
2016
A reference panel of 64,976 haplotypes for genotype imputation.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR et al.
Nature genetics 2016;48;10;1279-83
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ.
Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I et al.
The Journal of clinical endocrinology and metabolism 2016;jc20161879
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas MA, Graham D, Sulem P, Stevens C, Desch AN et al.
Nature communications 2016;7;12342
Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.
Saadati HR, Wittig M, Helbig I, Häsler R, Anderson CA et al.
BMC medical genetics 2016;17;26
2015
Class II HLA interactions modulate genetic risk for multiple sclerosis.
Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK et al.
Nature genetics 2015;47;10;1107-13
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R et al.
Nature genetics 2015;47;9;979-986
Genetics in PSC: what do the "risk genes" teach us?
Folseraas T, Liaskou E, Anderson CA and Karlsen TH
Clinical reviews in allergy & immunology 2015;48;2-3;154-64
Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated disease.
Raine T, Liu JZ, Anderson CA, Parkes M and Kaser A
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L et al.
Nature genetics 2015;47;2;172-9
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
Cordell HJ, Han Y, Mells GF, Li Y, Hirschfield GM et al.
Nature communications 2015;6;8019
Genome watch: The chronicles of virus-host affairs.
Nature reviews. Microbiology 2015;13;8;460
Genetics in PSC: what do the "risk genes" teach us?
Folseraas T, Liaskou E, Anderson CA and Karlsen TH
Clinical reviews in allergy & immunology 2015;48;2-3;154-64
From candidate gene studies to GWAS and post-GWAS analyses in breast cancer.
Current opinion in genetics & development 2015;30;32-41
Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated disease.
Raine T, Liu JZ, Anderson CA, Parkes M and Kaser A
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.
Fachal L, Mosquera-Miguel A, Pastor P, Ortega-Cubero S, Lorenzo E et al.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015;168B;1;54-65
2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L et al.
American journal of human genetics 2014;94;6;915-23
Genetic studies of Crohn's disease: past, present and future.
Best practice & research. Clinical gastroenterology 2014;28;3;373-86
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.
Zugazagoitia J, Pérez-Segura P, Manzano A, Blanco I, Vega A et al.
Breast cancer research and treatment 2014;148;2;415-21
A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.
Fachal L, Gómez-Caamaño A, Barnett GC, Peleteiro P, Carballo AM et al.
Nature genetics 2014;46;8;891-4
Deep sequencing of norovirus genomes defines evolutionary patterns in an urban tropical setting.
Cotten M, Petrova V, Phan MV, Rabaa MA, Watson SJ et al.
Journal of virology 2014;88;19;11056-69
Radiogenomics: radiobiology enters the era of big data and team science.
Rosenstein BS, West CM, Bentzen SM, Alsner J, Andreassen CN et al.
International journal of radiation oncology, biology, physics 2014;89;4;709-13
No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort.
Fachal L, Gómez-Caamaño A, Alvarez Iglesias V, Gómez Carballa A, Calvo P, et al
Journal of human genetics 2014;59;7;411-4
Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity.
Fachal L, Mosquera-Miguel A, Gómez-Caamaño A, Sánchez-García M, Calvo P et al.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2014;111;2;199-205
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
Fachal L, Rodríguez-Pazos L, Ginarte M, Carracedo A, Toribio J and Vega A
The British journal of dermatology 2014;170;4;980-2
A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
Barnett GC, Thompson D, Fachal L, Kerns S, Talbot C et al.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2014;111;2;178-85
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A et al.
American journal of human genetics 2014;94;2;295-302
Host genetic variants and gene expression patterns associated with Epstein-Barr virus copy number in lymphoblastoid cell lines.
Houldcroft CJ, Petrova V, Liu JZ, Frampton D, Anderson CA et al.
PloS one 2014;9;10;e108384
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R et al.
Clinical chemistry 2014;60;2;341-52
Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.
Fachal L, Blanco A, Santamariña M, Carracedo A and Vega A
2013
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF et al.
Nature genetics 2013;45;11;1353-60
Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway.
Lee JC, Espéli M, Anderson CA, Linterman MA, Pocock JM et al.
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants.
Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR et al.
Proceedings of the National Academy of Sciences of the United States of America 2013;110;44;17921-6
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM et al.
Nature genetics 2013;45;6;670-5
CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.
Fachal L, Santamariña M, Blanco A, Carracedo A and Vega A
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2013;15;2;164-5
Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.
Kerns SL, Stock RG, Stone NN, Blacksburg SR, Rath L, et al.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2013;107;3;372-6
Full-genome deep sequencing and phylogenetic analysis of novel human betacoronavirus.
Cotten M, Lam TT, Watson SJ, Palser AL, Petrova V, et al.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2013;107;3;372-6
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A et al.
Human mutation 2013;34;10;1424-31
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF et al.
Nature genetics 2013;45;11;1353-60
Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
Beaudoin M, Goyette P, Boucher G, Lo KS, Rivas MA et al.
PLoS genetics 2013;9;9;e1003723
Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes.
Gómez-Carballa A, Pardo-Seco J, Fachal L, Vega A, Cebey M et al.
PloS one 2013;8;10;e75397
2012
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP et al.
Nature 2012;491;7422;119-24
Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients.
Fachal L, Gómez-Caamaño A, Peleteiro P, Carballo A, Calvo-Crespo P, Sánchez-García M, Lobato-Busto R, Carracedo A and Vega A
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2012;105;3;321-8
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Liu JZ, Almarri MA, Gaffney DJ, Mells GF, Jostins L et al.
Nature genetics 2012;44;10;1137-41
TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients.
Fachal L, Gómez-Caamaño A, Sánchez-García M, Carballo A, Peleteiro P et al.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2012;103;2;206-9
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS et al.
Breast cancer research and treatment 2012;132;3;1009-23
Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.
Fachal L, Rodríguez-Pazos L, Ginarte M, Beiras A, Suárez-Peñaranda JM et al.
International journal of dermatology 2012;51;4;427-30
optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants.
Shah TS, Liu JZ, Floyd JA, Morris JA, Wirth N et al.
Bioinformatics (Oxford, England) 2012;28;12;1598-603
Multiple local and recent founder effects of TGM1 in Spanish families.
Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A and Vega A
2011
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Mells GF, Floyd JA, Morley KI, Cordell HJ, Franklin CS et al.
Nature genetics 2011;43;4;329-32
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M et al.
Nature genetics 2011;43;3;246-52
BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.
Fachal L, Gómez-Caamaño A, Celeiro-Muñoz C, Peleteiro P, Blanco A et al.
The Prostate 2011;71;16;1768-79
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A et al.
The British journal of dermatology 2011;165;4;906-11
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
Graña B, Fachal L, Darder E, Balmaña J, Ramón Y Cajal T et al.
Breast cancer research and treatment 2011;128;2;573-9
Synthetic associations are unlikely to account for many common disease genome-wide association signals.
Anderson CA, Soranzo N, Zeggini E and Barrett JC
PLoS biology 2011;9;1;e1000580
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J et al.
Nature genetics 2011;43;1;51-4
2010
Data quality control in genetic case-control association studies.
Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP and Zondervan KT
Nature protocols 2010;5;9;1564-73
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J et al.
Nature genetics 2010;43;1;51-4
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL et al.
Nature genetics 2010;42;12;1118-25
Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P et al.
Nature genetics 2010;42;5;436-40
Specific N-linked glycosylation sites modulate synthesis and secretion of von Willebrand factor.
McKinnon TA, Goode EC, Birdsey GM, Nowak AA, Chan AC et al.
Establishment of a Radiogenomics Consortium.
West C, Rosenstein BS, Alsner J, Azria D, Barnett G et al.
International journal of radiation oncology, biology, physics 2010;76;5;1295-6
2009
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M et al.
Gastroenterology 2009;136;2;523-9.e3
Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease.
Salas A, Fachal L, Marcos-Alonso S, Vega A, Martinón-Torres F et al.
Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.
Blanco A, Graña B, Fachal L, Santamariña M, Cameselle-Teijeiro J et al.
Clinical genetics 2009;77;2;193-6
Common variants at five new loci associated with early-onset inflammatory bowel disease.
Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V et al.
Nature genetics 2009;41;12;1335-40
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
UK IBD Genetics Consortium, Barrett JC, Lee JC, Lees CW, Prescott NJ et al.
Nature genetics 2009;41;12;1330-4
2008
Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms.
Anderson CA, Pettersson FH, Barrett JC, Zhuang JJ, Ragoussis J et al.
American journal of human genetics 2008;83;1;112-9
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M et al.
Gastroenterology 2008;136;2;523-9.e3
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH et al.
Nature genetics 2008;40;8;955-62
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Fisher SA, Tremelling M, Anderson CA, Gwilliam R, Bumpstead S et al.
Nature genetics 2008;40;6;710-2
2007
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA et al.
Nature genetics 2007;39;7;830-2
