Publications in collaboration with researchers from University of Bern (42)

2024

  1. A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient

    International Journal of Molecular Sciences, Vol. 25, Núm. 6

  2. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    eBioMedicine, Vol. 99

  3. Gene content, phage cycle regulation model and prophage inactivation disclosed by prophage genomics in the Helicobacter pylori Genome Project

    Gut Microbes, Vol. 16, Núm. 1

  4. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

  5. NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor

    International Journal of Molecular Sciences, Vol. 25, Núm. 18

  6. The “Woundosome” Concept and Its Impact on Procedural Outcomes in Patients With Chronic Limb-Threatening Ischemia

    Journal of Endovascular Therapy

2023

  1. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

  2. The Helicobacter pylori Genome Project: insights into H. pylori population structure from analysis of a worldwide collection of complete genomes

    Nature Communications, Vol. 14, Núm. 1

2022

  1. 2022 taxonomic update of phylum Negarnaviricota (Riboviria: Orthornavirae), including the large orders Bunyavirales and Mononegavirales

    Archives of Virology, Vol. 167, Núm. 12, pp. 2857-2906

  2. Global multi-stakeholder endorsement of the MAFLD definition

    The Lancet Gastroenterology and Hepatology

  3. The ENIGMA Stroke Recovery Working Group: Big data neuroimaging to study brain–behavior relationships after stroke

    Human Brain Mapping, Vol. 43, Núm. 1, pp. 129-148

2021

  1. Genetics of human sexual development and related disorders

    Current opinion in pediatrics, Vol. 33, Núm. 6, pp. 556-563

  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. Corrigendum to ‘Global Vascular Guidelines on the Management of Chronic Limb-Threatening Ischemia’ (European Journal of Vascular & Endovascular Surgery (2019) 58(1S) (S1–S109.e33), (S1078588419303806), (10.1016/j.ejvs.2019.05.006))

    European Journal of Vascular and Endovascular Surgery

  2. Corrigendum to “Global Vascular Guidelines on the Management of Chronic Limb-Threatening Ischaemia” [Eur J Vasc Endovasc Surg 58 (1S) (2019) 1–109>] (European Journal of Vascular & Endovascular Surgery (2019) 58(1S) (S1–S109.e33), (S1078588419303806), (10.1016/j.ejvs.2019.05.006))

    European Journal of Vascular and Endovascular Surgery

  3. From transformation to chronification of migraine: Pathophysiological and clinical aspects

    Journal of Headache and Pain, Vol. 21, Núm. 1

  4. Standardization of Nomenclature for Ocular Tuberculosis–Results of Collaborative Ocular Tuberculosis Study (COTS) Workshop

    Ocular Immunology and Inflammation, Vol. 28, Núm. sup1, pp. 74-84

2019

  1. Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

    Frontiers in Genetics, Vol. 10

  2. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

  3. Editor's Choice – European Society for Vascular Surgery (ESVS) 2019 Clinical Practice Guidelines on the Management of Abdominal Aorto-iliac Artery Aneurysms

    European Journal of Vascular and Endovascular Surgery, Vol. 57, Núm. 1, pp. 8-93