Publications in collaboration with researchers from Children's Hospital of Philadelphia (7)

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. Polymicrobial Aggregates in Human Saliva Build the Oral Biofilm

    mBio, Vol. 13, Núm. 1, pp. e0013122

  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

2016

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

    European Journal of Endocrinology

2013

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

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