Publications in collaboration with researchers from University of Pennsylvania (39)

2024

  1. AI is a viable alternative to high throughput screening: a 318-target study

    Scientific Reports, Vol. 14, Núm. 1

  2. Antibiotic Prophylaxis and Infective Endocarditis Incidence Following Invasive Dental Procedures: A Systematic Review and Meta-Analysis

    JAMA Cardiology

  3. Early life exposure to secondhand tobacco smoke and eating behaviors at age 12 years

    Environmental Health: A Global Access Science Source, Vol. 23, Núm. 1

2023

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

    Nature communications

  2. Pre- and postnatal exposure to secondhand tobacco smoke and cardiometabolic risk at 12 years: Periods of susceptibility

    Environmental Research, Vol. 224

  3. 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 genome-wide association study of survival in patients with sepsis

    Critical Care, Vol. 26, 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. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  4. Pre- and postnatal exposure to secondhand tobacco smoke and body composition at 12 years: periods of susceptibility

    Obesity, Vol. 30, Núm. 8, pp. 1659-1669

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  3. Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates

    Endocrine Pathology, Vol. 32, Núm. 1, pp. 77-101

2020

  1. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

  2. Repositioning of the global epicentre of non-optimal cholesterol

    Nature, Vol. 582, Núm. 7810, pp. 73-77

  3. Use of allergy tests to identify dietary and environmental triggers of eosinophilic esophagitis: protocol for a systematic review

    Allergo Journal International, Vol. 29, Núm. 8, pp. 280-283

2019

  1. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  2. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Nature Genetics, Vol. 51, Núm. 3, pp. 414-430

  3. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106