Publicaciones en colaboración con investigadores/as de Essen University Hospital (22)

2024

  1. Metabolic Acidosis Is Associated With an Accelerated Decline of Allograft Function in Pediatric Kidney Transplantation

    Kidney International Reports, Vol. 9, Núm. 6, pp. 1684-1693

  2. Outcomes after surgical revascularization in diabetic patients

    Interdisciplinary cardiovascular and thoracic surgery, Vol. 38, Núm. 2

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

    Journal of Endovascular Therapy

  4. Type 1 Autoimmune Pancreatitis in Europe: Clinical Profile and Response to Treatment

    Clinical Gastroenterology and Hepatology, Vol. 22, Núm. 5, pp. 994-1004.e10

2023

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

    Nature

  2. EANM practice guideline for quantitative SPECT-CT

    European Journal of Nuclear Medicine and Molecular Imaging, Vol. 50, Núm. 4, pp. 980-995

  3. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  4. Results from an EANM survey on time estimates and personnel responsible for main tasks in molecular radiotherapy dosimetry

    European Journal of Nuclear Medicine and Molecular Imaging

2022

  1. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

    Human Genetics, Vol. 141, Núm. 1, pp. 147-173

  2. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

    Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966

  3. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)

    Nature

  4. Stroke genetics informs drug discovery and risk prediction across ancestries

    Nature, Vol. 611, Núm. 7934, pp. 115-123

2021

  1. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x)

    Genetics in Medicine

  2. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  3. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

  4. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

2020

  1. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Genetics in Medicine, Vol. 22, Núm. 11, pp. 1851-1862

2015

  1. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Journal of Clinical Immunology, Vol. 35, Núm. 2, pp. 168-181

2013

  1. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135

2012

  1. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

    American Journal of Human Genetics, Vol. 90, Núm. 2, pp. 369-377