Publications in collaboration with researchers from University of Pennsylvania (80)

2024

  1. 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

  2. Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions

    Neuron

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

    Journal of Endovascular Therapy

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

    Nature communications

  3. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

    Hepatology, Vol. 77, Núm. 2, pp. 512-529

  4. Surgeons’ perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey

    World Journal of Emergency Surgery, Vol. 18

  5. Techniques for mesoappendix transection and appendix resection: insights from the ESTES SnapAppy study

    European Journal of Trauma and Emergency Surgery, Vol. 49, Núm. 1, pp. 17-32

2022

  1. A genetic probe into the ancient and medieval history of Southern Europe and West Asia

    Science, Vol. 377, Núm. 6609

  2. Ancient DNA from Mesopotamia suggests distinct Pre-Pottery and Pottery Neolithic migrations into Anatolia

    Science, Vol. 377, Núm. 6609, pp. 982-987

  3. Antibacterial smart hydrogels: New hope for infectious wound management

    Materials Today Bio, Vol. 17

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

    BMC Medical Genomics, Vol. 15, Núm. 1

  5. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

  6. Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort

    npj Parkinson's Disease, Vol. 8, Núm. 1

  7. New insights into the genetic etiology of Alzheimer's disease and related dementias

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

  8. The genetic history of the Southern Arc: A bridge between West Asia and Europe

    Science, Vol. 377, Núm. 6609

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Biomarkers for Traumatic Brain Injury: Data Standards and Statistical Considerations

    Journal of Neurotrauma, Vol. 38, Núm. 18, pp. 2514-2529

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

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

  4. 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