Publikationen in Zusammenarbeit mit Forschern von St George's, University of London (13)

2023

  1. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

    Brain, Vol. 146, Núm. 8, pp. 3273-3288

2022

  1. Children living with HIV in Europe: do migrants have worse treatment outcomes?

    HIV Medicine, Vol. 23, Núm. 2, pp. 186-196

2019

  1. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 181, Núm. 4, pp. 502-508

2018

  1. Effect of Systemic Hypertension With Versus Without Left Ventricular Hypertrophy on the Progression of Atrial Fibrillation (from the Euro Heart Survey)

    American Journal of Cardiology, Vol. 122, Núm. 4, pp. 578-583

  2. Prediction of preterm delivery in symptomatic women using PAMG-1, fetal fibronectin and phiGFBP-1 tests: Systematic review and meta-analysis

    Ultrasound in Obstetrics and Gynecology, Vol. 52, Núm. 4, pp. 442-451

  3. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 3 approved]

    Wellcome Open Research, Vol. 3

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2014

  1. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Nature Genetics, Vol. 46, Núm. 4, pp. 385-388

2012

  1. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 21, Núm. 4, pp. 645-657

  2. Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: A systematic analysis for the Global Burden of Disease Study 2010

    The Lancet, Vol. 380, Núm. 9859, pp. 2197-2223

  3. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Human Mutation, Vol. 33, Núm. 4, pp. 690-702

  4. Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: A systematic analysis for the Global Burden of Disease Study 2010

    The Lancet, Vol. 380, Núm. 9859, pp. 2163-2196

2007

  1. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

    Nature Genetics, Vol. 39, Núm. 8, pp. 963-965