Publicacións en colaboración con investigadores/as de Harvard Medical School (55)

2024

  1. Agreement between local and central anti-synthetase antibodies detection: results from the Classification Criteria of Anti-Synthetase Syndrome project biobank

    Clinical and experimental rheumatology, Vol. 42, Núm. 2, pp. 277-287

  2. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

2023

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

    Nature

  2. Challenges and unmet needs in FPIES from the parents and adult patients’ perspective: An international survey

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 11, Núm. 4, pp. 1306-1309.e2

  3. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  4. Pilot study to define criteria for Pituitary Tumors Centers of Excellence (PTCOE): results of an audit of leading international centers

    Pituitary, Vol. 26, Núm. 5, pp. 583-596

  5. Severe asthma patients’ and physicians’ perspectives of disease burden: do they match?

    ERJ Open Research

  6. World Workshop on Oral Medicine VIII: Dentists’ compliance with infective endocarditis prophylaxis guidelines for patients with high-risk cardiac conditions: a systematic review

    Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Vol. 135, Núm. 6, pp. 757-771

2022

  1. A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

    Journal of Neurodevelopmental Disorders, Vol. 14, Núm. 1

  2. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    PLoS genetics, Vol. 18, Núm. 11, pp. e1010367

  3. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 114-126

  4. Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation

    Mutation Research - Reviews in Mutation Research, Vol. 789

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

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

  6. 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

  7. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331

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

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

  9. The Role of Fatty Acid-Binding Protein 4 in the Characterization of Atrial Fibrillation and the Prediction of Outcomes after Catheter Ablation

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

2021

  1. Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye

    JAMA - Journal of the American Medical Association, Vol. 325, Núm. 8, pp. 753-764

  2. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  3. Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

    Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543