Concepedia

Hernán Gonorazky

HG

25

Publications

2K

Citations

17

H-Index

2014

Active since

Affiliations

Hospital for Sick Children(Current)

University of Toronto

SickKids Foundation

Western University

Children's Hospital of Eastern Ontario

Hernán Gonorazky is an author at Hospital for Sick Children specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2014–2023

25

Publications

25

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

Hernán Gonorazky, Sergey Naumenko, Arun Ramani et al. · The American Journal of Human Genetics · 2019 · 234 citations · Full text

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · 2016 · 150 citations · Full text

, , +16

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 132 citations · Full text

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Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

Daria Wojtal, Dwi U. Kemaladewi, Zeenat Malam et al. · The American Journal of Human Genetics · 2015 · 112 citations · Full text

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