Justin A. Pater - Concepedia

Author

Justin A. Pater

Memorial University of Newfoundland ORCID

Also Known As

Justin A. Pater, Justin Pater

Publications

124

Citations

H-Index

Concepts

All Affiliations

Memorial University of Newfoundland Western University St. John’s Health Sciences Centre Harvard University SickKids Foundation

About

Justin A. Pater is an author at Memorial University of Newfoundland specializing in medicine, genetics, and clinical genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	48
2	Arts	1	1	16
3	Cell Biology	1	1	22
4	Cellular Physiology	1	1	22
5	Immunology	1	1	22

Justin A. Pater

Publications

115

Citations

H-Index

Page 1

	Year	Citations
Integrin linked kinase regulates syncytialization of BeWo trophoblast cells† Trina M. Butler, Justin A. Pater, Daniel J. MacPhee Biology of Reproduction EmbryologyCdh1 ExpressionSignal TransductionDevelopmental BiologyCell Lineage	2017	22
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene Justin A. Pater, Cindy Penney, Darren D. O’Rielly, Human Genetics	2022	20
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect Justin A. Pater, Tammy Benteau, Anne Griffin, Human Genetics Genetic TestingGeneticsPathologyCldn14 P.Disease Gene Identification	2016	16
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene Nelly Abdelfatah, Ahmed Mostafa, Curtis R. French, Human Genetics	2021	14
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss Justin A. Pater, Jane Green, Darren D. O’Rielly, BMC Medical Genetics	2019	12
A dominant <i>RAD51C</i> pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect Lesa Dawson, Kerri Smith, Salem Werdyani, Molecular Genetics & Genomic Medicine	2019	11
Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer Megan E. Tesch, Justin A. Pater, Gillian Vandekerkhove, npj Genomic Medicine	2020	10
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate Jane S. Green, Darren D. O’Rielly, Justin A. Pater, European Journal of Human Genetics Stargardt Macular DystrophyOcular DiseaseMendelian DisorderOphthalmologyGenetic Disorder	2020	10

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