Anne Griffin - Concepedia

Author

Anne Griffin

Memorial University of Newfoundland ORCID

Also Known As

A M Griffin, Anne Griffin

Publications

248

Citations

H-Index

Concepts

All Affiliations

Memorial University of Newfoundland Western University Hospital for Sick Children SickKids Foundation University of Toronto

About

Anne Griffin is an author at Memorial University of Newfoundland specializing in genomics, hearing loss, and medicine.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Arts	2	2	49
2	Medicine	2	2	49
3	Natural Sciences	1	1	15
4	Biochemistry	1	1	15
5	Molecular Biology	1	1	15

Anne Griffin

Publications

237

Citations

H-Index

Page 1

	Year	Citations
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Hagop Youssoufian, Stylianos E. Antonarakis, William R. Bell, PubMed	1988	114
A Novel Deletion in<i>SMPX</i>Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect Nelly Abdelfatah, Nancy D. Merner, Jim Houston, Human Mutation Novel DeletionGeneticsNeurotologyMolecular GeneticsGene Characterization	2012	33
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
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL Nelly Abdelfatah, David A. McComiskey, Lance P. Doucette, European Journal of Human Genetics BiochemistryUnknown OriginNatural SciencesBiochemical GeneticsMolecular Biology	2013	15
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
X-Linked Hearing Loss: Two Gene Mutation Examples Provide Generalizable Implications for Clinical Care Susan G. Stanton, Anne Griffin, Tracy Stockley, American Journal of Audiology	2014	13
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

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