Lisa G Riley

Years Active: 2020-2022
Publications (10 Years): 3

This page only lists publications with an associated author ORCID identifier.

Publications

Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yüksel, Luke E Formosa, Alison G Compton, Russell C Dale, Mark J Cowley, Velimir Gayevskiy, Saeed M Al Tala, Abdulrahman A Almehery, Michael T Ryan, David R Thorburn, Ken Nakamura, John Chrisodoulou
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. Human mutation (2022)
Lisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, Meredith Wilson, Melissa Luig, Thushari Indika Alahakoon, Cheng Yee Nixon, Edwin P Kirk, Tony Roscioli, Sebastian Lunke, Zornitza Stark, Klaas J Wierenga, Sirish Palle, Maie Walsh, Emily Higgs, Susan Arbuckle, Shalini Thirukeswaran, Alison G Compton, David R Thorburn, John Chrisodoulou
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Human mutation 41 (8) (2021)
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Andre E Minoche, Clare Puttick, David R Thorburn, Rocio Rius, Alison G Compton, Minal J Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genetics in medicine : official journal of the American College of Medical Genetics 22 (7) (2020)

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