Hernán Gonorazky - Concepedia

Author

Hernán Gonorazky

Also Known As

H Gonorazky, H. Gonorazky, HERNAN D GONORAZKY, Herman Gonorazky, Hernan D. Gonorazky, Hernan Dario Gonorazky, Hernan Gonorazky, Hernan D. Gonorazky, Hernn Gonorazky, Hernán Gonorazky

111

Publications

2.6K

Citations

H-Index

Concepts

All Affiliations

Hospital for Sick Children University of Toronto SickKids Foundation Western University Children's Hospital of Eastern Ontario

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	14	715
2	Public Health	2	2	38
3	Education	1	1	18
4	Engineering	1	1	89
5	Natural Sciences	1	1	112

Hernán Gonorazky

Publications

Citations

H-Index

Page 1

	Year	Citations
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Science Translational Medicine	2017	767
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Hernán Gonorazky, Sergey Naumenko, Arun Ramani, The American Journal of Human Genetics	2019	234
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, GeneticsPathologyDisease Gene IdentificationGenomicsSplicing Variant	2016	150
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Vanessa Schartner, Norma B. Romero, Sandra Donkervoort, Acta Neuropathologica Congenital MyopathyMendelian DisorderDegenerative DiseaseGenetic Disorder	2016	132
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Daria Wojtal, Dwi U. Kemaladewi, Zeenat Malam, The American Journal of Human Genetics Inherited DisordersGenome SurgeryNatural SciencesGeneticsMolecular Biology	2015	112
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models Nesrin Sabha, Jonathan Volpatti, Hernán Gonorazky, Journal of Clinical Investigation Cell DeathMtm PhenotypeCytoskeletonCellular PhysiologySignaling Pathway	2016	101
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations Johann Böhm, Valérie Biancalana, Edoardo Malfatti, Brain Mitochondrial MyopathyChromatinDevelopmental AnomalyMendelian DisorderGenetic Disorder	2014	99
<scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy Hernán Gonorazky, Minggao Liang, Beryl B. Cummings, Annals of Clinical and Translational Neurology SequencingFunctional GenomicsEngineeringDmd GeneMedicine	2015	89
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations Hugh J. McMillan, Kristin D. Kernohan, Ed Yeh, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques	2020	37
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era Fatima Al Amrani, Reshma Amin, Jackie Chiang, Neurology Clinical Practice	2022	35

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