James J. Dowling - Concepedia

Author

James J. Dowling

Also Known As

Adele D’Amico, Ashish R. Deshwar, Charu Kaiwar, Cui, Wilson W., Daniel Michele, Dowling, J, Dowling, James J., Florence Demurger, Hugh Mcmillan, J Dowling

404

Publications

14.6K

Citations

H-Index

219

Concepts

All Affiliations

Hospital for Sick Children University of Michigan University of Toronto McMaster University SickKids Foundation

About

James J. Dowling is an author at Hospital for Sick Children specializing in medicine, genetics, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	35	71	5.3K
2	Health Sciences	16	20	1.3K
3	Natural Sciences	10	10	1.2K
4	Engineering	9	9	443
5	Education	2	2	42

James J. Dowling

153

Publications

12.1K

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
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test Anath C. Lionel, Gregory Costain, Nasim Monfared, Genetics in Medicine	2017	551
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J Clement Y. Chow, Yanling Zhang, James J. Dowling, Nature Knockout MouseGenetic DisorderNatural SciencesGeneticsMolecular Biology	2007	505
Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. James J. Dowling, Q C Yu, Elaine Fuchs The Journal of Cell Biology Hemidesmosome FormationDevelopmental BiologyAlpha 6MedicineCell Adhesion	1996	501
Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration Lifei Guo, Linda Degenstein, James J. Dowling, Cell Lineage PlasticityTissue DevelopmentNeurologic DegenerationGene TargetingGenetics	1995	441
Approach to the diagnosis of congenital myopathies Kathryn N. North, Ching H. Wang, Nigel F. Clarke, Neuromuscular Disorders	2013	313
An Essential Cytoskeletal Linker Protein Connecting Actin Microfilaments to Intermediate Filaments Yanmin Yang, James J. Dowling, Qian‐Chun Yu, Cell Protein FunctionNatural SciencesMacromolecular MachineMolecular BiologyCell Motility	1996	300
<i>RYR1</i> mutations are a common cause of congenital myopathies with central nuclei Jo M. Wilmshurst, Suzanne Lillis, Haiyan Zhou, Annals of Neurology	2010	261
Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy Eric J. Horstick, Jeremy W. Linsley, James J. Dowling, Nature Communications CytoskeletonPhysiologyMolecular BiologyNative American Myopathy	2013	256
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

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