Latest publications View all (56) »

1. Published

   De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

   Research output: Contribution to journal › Journal article › Research › peer-review

2. Published

   Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

   Research output: Contribution to journal › Journal article › Research › peer-review

3. Published

   Erratum: Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology (The American Journal of Human Genetics (2019) 105(1) (15–28), (S0002929719301880), (10.1016/j.ajhg.2019.05.002))

   Research output: Contribution to journal › Comment/debate › Research › peer-review