Publicacións en colaboración con investigadores/as de Children's Hospital of Philadelphia (12)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2022

  1. 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

  2. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

    Nature, Vol. 604, Núm. 7906, pp. 502-508

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

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

2021

  1. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2018

  1. Site variability in regulatory oversight for an international study of pediatric sepsis

    Pediatric Critical Care Medicine, Vol. 19, Núm. 4, pp. e180-e188

2017

  1. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

    American Journal of Human Genetics, Vol. 101, Núm. 6, pp. 985-994

2016

  1. Comparison of Pediatric Severe Sepsis Managed in U.S. and European ICUs

    Pediatric Critical Care Medicine, Vol. 17, Núm. 6, pp. 522-530

  2. Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations

    European Journal of Endocrinology

2015

  1. Discordant identification of pediatric severe sepsis by research and clinical definitions in the SPROUT international point prevalence study

    Critical Care, Vol. 19, Núm. 1

2014

  1. In vivo disruption of an Rb-E2F-Ezh2 signaling loop causes bladder cancer

    Cancer Research, Vol. 74, Núm. 22, pp. 6565-6577

2013

  1. Treatment of diabetes and long-term survival after insulin and glucokinase gene therapy

    Diabetes, Vol. 62, Núm. 5, pp. 1718-1729