Publications in collaboration with researchers from Children's Hospital of Philadelphia (51)

2024

  1. A 20-year overview of fertility preservation in boys: new insights gained through a comprehensive international survey

    Human Reproduction Open, Vol. 2024, Núm. 2

  2. A genome-wide association analysis reveals new pathogenic pathways in gout*

    Nature Genetics

  3. Analysis of guideline recommendations for treatment of asthma exacerbations in children: a Pediatric Emergency Research Networks (PERN) study

    Archives of Disease in Childhood, Vol. 109, Núm. 6, pp. 468-475

  4. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

    eBioMedicine, Vol. 107

  5. FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

    Reproductive Biology and Endocrinology, Vol. 22, Núm. 1

  6. Features Associated With Radiographic Pneumonia in Children with SARS-CoV-2

    Journal of the Pediatric Infectious Diseases Society, Vol. 13, Núm. 4, pp. 257-259

  7. Framework for Research Gaps in Pediatric Ventilator Liberation

    Chest, Vol. 166, Núm. 5, pp. 1056-1070

  8. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

  9. Report of the International Council for Standardization in Haematology working group for standardization of reticulocyte parameters

    International Journal of Laboratory Hematology, Vol. 46, Núm. 2, pp. 266-274

  10. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2023

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

    Nature

  2. Executive Summary of the Second International Guidelines for the Diagnosis and Management of Pediatric Acute Respiratory Distress Syndrome (PALICC-2)

    Pediatric Critical Care Medicine, Vol. 24, Núm. 2, pp. 143-168

  3. Executive Summary: International Clinical Practice Guidelines for Pediatric Ventilator Liberation, A Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network Document

    American Journal of Respiratory and Critical Care Medicine, Vol. 207, Núm. 1, pp. 17-28

  4. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

    Nature Genetics, Vol. 55, Núm. 5, pp. 796-806

  5. Impact of SARS-CoV-2 Infection on the Association Between Laboratory Tests and Severe Outcomes Among Hospitalized Children

    Open Forum Infectious Diseases, Vol. 10, Núm. 10

  6. Operational Definitions Related to Pediatric Ventilator Liberation

    Chest, Vol. 163, Núm. 5, pp. 1130-1143

  7. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

    Brain, Vol. 146, Núm. 8, pp. 3273-3288

2022

  1. Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

    BMC Medical Genomics, Vol. 15, Núm. 1

  2. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

  3. Omphalitis and Concurrent Serious Bacterial Infection

    Pediatrics, Vol. 149, Núm. 5