Gautam M. Kok - Publications

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.

Journal: Journal of inherited metabolic disease

Published: November 22, 2024

NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL

Journal: Harefuah

Published: July 02, 2023

The Effect of Genetic HLA Matching on Liver Transplantation Outcome: A Systematic Review and Meta-Analysis.

Journal: Annals of surgery open : perspectives of surgical history, education, and clinical approaches

Published: November 21, 2022

Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.

Journal: Nucleic acids research

Published: September 15, 2022

A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use.

Journal: Communications biology

Published: June 17, 2022

Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes.

Journal: Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society

Published: December 09, 2021

Response to Shen et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 25, 2021

Treatment of ARS deficiencies with specific amino acids.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 18, 2021

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.

Journal: Human mutation

Published: January 28, 2021

Response to Shen and Zou.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 25, 2020

Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 16, 2020

Possibilities and Pitfalls of Social Media for Translational Medicine.

Journal: Frontiers in medicine

Published: July 14, 2018