Literature DB >> 25764011

Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.

Francois H van der Westhuizen1, Phumla Z Sinxadi, Collet Dandara, Izelle Smuts, Gillian Riordan, Surita Meldau, Afshan N Malik, Mary G Sweeney, Yuchia Tsai, Gordon W Towers, Roan Louw, Grainne S Gorman, Brendan A Payne, Himla Soodyall, Michael S Pepper, Joanna L Elson.   

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Year:  2015        PMID： 25764011     DOI： 10.1002/humu.22789

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  7 in total

1.  Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit.

Authors:  Antón Vila-Sanjurjo; Paul M Smith; Joanna L Elson
Journal:  Methods Mol Biol       Date:  2021

Review 2.  Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications.

Authors:  Martine Uittenbogaard; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2020-06-27       Impact factor: 4.797

3.  Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.

Authors:  Rachel A Queen; Jannetta S Steyn; Phillip Lord; Joanna L Elson
Journal:  PLoS One       Date:  2017-11-21       Impact factor: 3.240

4.  Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations.

Authors:  Hannah O'Keefe; Rachel A Queen; Surita Meldau; Phillip Lord; Joanna L Elson
Journal:  J Mol Evol       Date:  2018-07-09       Impact factor: 2.395

5.  What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

Authors:  Hannah O'Keefe; Rachel Queen; Phillip Lord; Joanna L Elson
Journal:  Evol Appl       Date:  2019-08-27       Impact factor: 5.183

6.  A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations.

Authors:  Galya V Klink; Hannah O'Keefe; Amrita Gogna; Georgii A Bazykin; Joanna L Elson
Journal:  Sci Rep       Date:  2021-10-01       Impact factor: 4.379

Review 7.  The aetiology of cardiovascular disease: a role for mitochondrial DNA?

Authors:  Marianne Venter; Francois H van der Westhuizen; Joanna L Elson
Journal:  Cardiovasc J Afr       Date:  2017-08-25       Impact factor: 1.167
  7 in total

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