Publications en collaboration avec des chercheurs de University Hospital Bonn (21)

2024

  1. An artificial intelligence-assisted system versus white light endoscopy alone for adenoma detection in individuals with Lynch syndrome (TIMELY): an international, multicentre, randomised controlled trial

    The Lancet Gastroenterology and Hepatology, Vol. 9, Núm. 9, pp. 802-810

  2. Porto-sinusoidal vascular liver disorder with portal hypertension: Natural history and long-term outcome

    Journal of Hepatology

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. ATXN3 controls DNA replication and transcription by regulating chromatin structure

    Nucleic acids research, Vol. 51, Núm. 11, pp. 5396-5413

  3. Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia (Nature Genetics, (2022), 54, 11, (1621-1629), 10.1038/s41588-022-01192-y)

    Nature Genetics

  4. Correction to: Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I (Pediatric Nephrology, (2023), 38, 7, (2083-2092), 10.1007/s00467-022-05836-3)

    Pediatric Nephrology

  5. European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

    Nature Communications, Vol. 14, Núm. 1

  6. PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2

    Kidney International, Vol. 103, Núm. 1, pp. 207-217

  7. Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I

    Pediatric Nephrology, Vol. 38, Núm. 7, pp. 2083-2092

2022

  1. Diet-related urine collections: assistance in categorization of hyperoxaluria

    Urolithiasis, Vol. 50, Núm. 2, pp. 141-148

  2. Discovery of 42 genome-wide significant loci associated with dyslexia

    Nature Genetics, Vol. 54, Núm. 11, pp. 1621-1629

  3. Disorders of Oxalate Metabolism

    Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition (Springer International Publishing), pp. 1319-1332

  4. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria

    Cell Reports, Vol. 36, Núm. 8

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2020

  1. Inherited conditions resulting in nephrolithiasis

    Current opinion in pediatrics, Vol. 32, Núm. 2, pp. 273-283

2017

  1. Antithrombotic treatment with direct-acting oral anticoagulants in patients with splanchnic vein thrombosis and cirrhosis

    Liver International, Vol. 37, Núm. 5, pp. 694-699

  2. Association between telomere length and risk of cancer and non-neoplastic diseases a mendelian randomization study

    JAMA Oncology, Vol. 3, Núm. 5, pp. 636-651

2015

  1. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

    Nature Genetics, Vol. 47, Núm. 12, pp. 1449-1456

2010

  1. Impaired fibrinolysis as a risk factor for Budd-Chiari syndrome

    Blood, Vol. 115, Núm. 2, pp. 388-395