Publikationen in Zusammenarbeit mit Forschern von St George's, University of London (29)

2024

  1. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

    eBioMedicine, Vol. 107

2023

  1. Causes of death in children with congenital anomalies up to age 10 in eight European countries

    BMJ Paediatrics Open, Vol. 7, Núm. 1

  2. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

  3. Ethics and legal requirements for data linkage in 14 European countries for children with congenital anomalies

    BMJ Open, Vol. 13, Núm. 7

  4. Recent Advances and Potential Multi-Omics Approaches in the Early Phases of Inflammatory Bowel Disease

    Journal of Clinical Medicine, Vol. 12, Núm. 10

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

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

2022

  1. Temporal and geographical variations in survival of children born with congenital anomalies in Europe: A multi-registry cohort study

    Paediatric and Perinatal Epidemiology, Vol. 36, Núm. 6, pp. 792-803

  2. Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery

    BJS Open, Vol. 6, Núm. 1

2021

  1. Cardioversion in patients with newly diagnosed non-valvular atrial fibrillation: Observational study using prospectively collected registry data

    BMJ, Vol. 375

  2. Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

    eLife, Vol. 10

  3. Signal Detection in EUROmediCAT: Identification and Evaluation of Medication–Congenital Anomaly Associations and Use of VigiBase as a Complementary Source of Reference

    Drug Safety, Vol. 44, Núm. 7, pp. 765-785

2020

  1. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279

2019

  1. Management and 1-year outcomes of patients with newly diagnosed atrial fibrillation and chronic kidney disease: Results from the prospective garfield-af registry

    Journal of the American Heart Association, Vol. 8, Núm. 3

  2. 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. Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry

    Indian Heart Journal, Vol. 70, Núm. 6, pp. 828-835

  4. 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

2016

  1. Expression and function of Kv7.4 channels in rat cardiac mitochondria: Possible targets for cardioprotection

    Cardiovascular Research, Vol. 110, Núm. 1, pp. 40-50

  2. Is prolonged infusion of piperacillin/tazobactam and meropenem in critically ill patients associated with improved pharmacokinetic/pharmacodynamic and patient outcomes? An observation from the Defining Antibiotic Levels in Intensive care unit patients (DALI) cohort

    Journal of Antimicrobial Chemotherapy, Vol. 71, Núm. 1, pp. 196-207