Rory J. Tinker
Mount Sinai Medical Center(US)Icahn School of Medicine at Mount Sinai(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Current and Emerging Clinical Treatment in Mitochondrial Disease(2021)80 cited
- → Predictors of mortality and disability in stroke-associated pneumonia(2019)50 cited
- → Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics(2023)48 cited
- → First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in Brazil(2019)39 cited
- → Viral gastroenteritis in Tocantins, Brazil: characterizing the diversity of human adenovirus F through next-generation sequencing and bioinformatics(2020)29 cited
- → Pontine myelinolysis presenting with acute parkinsonism as a sequel of corrected hyponatraemia.(1990)25 cited
- → The contribution of mosaicism to genetic diseases and de novo pathogenic variants(2023)17 cited
- → Diagnostic delay in monogenic disease: A scoping review(2024)16 cited
- → Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder(2020)16 cited
- → A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype(2022)15 cited