Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (19)

2024

  1. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

    Movement Disorders, Vol. 39, Núm. 9, pp. 1578-1591

  2. Positioning of the Spanish Society of Sports Medicine concerning participation in sport of gender-affirmed, transsexual or intersex persons

    Archivos de Medicina del Deporte, Vol. 41, Núm. 1, pp. 23-28

2023

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

    Nature

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

    Nature

2022

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

    Nature

  2. Diagnostic action against hypertransaminasemia in paediatrics: Consensus document of Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica (SEGHNP), Asociación Española de Pediatría de Atención Primaria (AEPap) and Sociedad Española de Pediatría de Atención Primaria (SEPEAP)

    Anales de Pediatria, Vol. 96, Núm. 5, pp. 448.e1-448.e11

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

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

  4. Risk factors and bronchopulmonary dysplasia severity: data from the Spanish Bronchopulmonary Dysplasia Research Network

    European Journal of Pediatrics, Vol. 181, Núm. 2, pp. 789-799

  5. Whole-genome sequencing reveals host factors underlying critical COVID-19

    Nature, Vol. 607, Núm. 7917, pp. 97-103

2021

  1. Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

    Journal of Clinical Investigation, Vol. 131, Núm. 23

  2. Mapping the human genetic architecture of COVID-19

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

2020

  1. Neonatal Infection Due to SARS-CoV-2: An Epidemiological Study in Spain

    Frontiers in Pediatrics, Vol. 8

  2. Predictors of response to exclusive enteral nutrition in newly diagnosed crohn’s disease in children: PRESENCE Study from SEGHNP

    Nutrients, Vol. 12, Núm. 4

2018

  1. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467

  2. 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

2013

  1. Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): Implementation rates and observed trends during the past 8 years

    European Journal of Clinical Nutrition, Vol. 67, Núm. 4, pp. 318-323

2011

  1. Consensus on paediatric enteral nutrition access: A document approved by SENPE/SEGHNP/ANECIPN/SECP

    Nutricion Hospitalaria, Vol. 26, Núm. 1, pp. 1-15

2006

  1. Cuidados centrados en el desarrollo. Situación en las unidades de neonatología de España

    Anales de Pediatria, Vol. 64, Núm. 2, pp. 132-139

2002

  1. Heterozygous familial hypercholesterolemia in Spain. Description of 819 non related cases

    Medicina Clinica, Vol. 118, Núm. 13, pp. 487-492