Detalles de la búsqueda
1.
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores.
Am J Hum Genet;
2024 Apr 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38703768
2.
Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer.
Hum Mol Genet;
31(15): 2483-2497, 2022 08 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35157032
3.
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Am J Hum Genet;
108(7): 1190-1203, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34146516
4.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
N Engl J Med;
384(5): 428-439, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33471991
5.
Association analysis identifies 65 new breast cancer risk loci.
Nature;
551(7678): 92-94, 2017 11 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29059683
6.
A genome-wide association study of radiotherapy induced toxicity in head and neck cancer patients identifies a susceptibility locus associated with mucositis.
Br J Cancer;
126(7): 1082-1090, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35039627
7.
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Am J Hum Genet;
104(1): 21-34, 2019 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30554720
8.
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.
Acta Derm Venereol;
99(10): 894-898, 2019 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31120544
9.
Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity.
Br J Cancer;
114(10): 1165-74, 2016 05 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27070714
10.
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.
Am J Med Genet B Neuropsychiatr Genet;
168B(1): 54-65, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25349034
11.
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.
Breast Cancer Res Treat;
148(2): 415-21, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25342642
12.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem;
60(2): 341-52, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24212087
13.
No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort.
J Hum Genet;
59(7): 411-4, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24898828
14.
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.
Hum Mutat;
34(10): 1424-31, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23893897
15.
Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer.
Radiother Oncol;
187: 109806, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37437607
16.
Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types.
JNCI Cancer Spectr;
7(6)2023 Oct 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-37862240
17.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat;
132(3): 1009-23, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21769658
18.
No Association Between Polygenic Risk Scores for Cancer and Development of Radiation Therapy Toxicity.
Int J Radiat Oncol Biol Phys;
114(3): 494-501, 2022 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35840111
19.
Treatment time and circadian genotype interact to influence radiotherapy side-effects. A prospective European validation study using the REQUITE cohort.
EBioMedicine;
84: 104269, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36130474
20.
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.
Nat Genet;
54(9): 1275-1283, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36038634