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Nicole J Lake

Showing results (1-10 of 38) with videos related to

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Nature Reviews. Genetics|May 2, 2025
Revealing secrets of human genetic variation with population databasesNicole J Lake
Bioinformatics (Oxford, England)|May 13, 2022
MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNANicole J Lake, Lily Zhou, Jenny Xu, et al.
Journal of Neuropathology and Experimental Neurology|May 16, 2015
Leigh syndrome: neuropathology and pathogenesisNicole J Lake, Matthew J Bird, Pirjo Isohanni, et al.
Trends in Genetics : TIG|July 31, 2022
Neuromuscular disorders: finding the missing genetic diagnosesKatherine E Koczwara, Nicole J Lake, Alec M DeSimone, et al.
Annals of Neurology|October 28, 2015
Leigh syndrome: One disorder, more than 75 monogenic causesNicole J Lake, Alison G Compton, Shamima Rahman, et al.
Journal of Neuromuscular Diseases|April 3, 2023
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic DatabasesNicole J Lake, Joel Phua, Wei Liu, et al.
Nature Communications|February 18, 2026
Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemiaSergiu Pasca, Yun Soo Hong, Wen Shi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesWei Liu, Sander Pajusalu, Nicole J Lake, et al.
Nature Communications|May 15, 2026
A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNALianting Fu, Jieyi Chen, Da Lian, et al.
Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
Nature Reviews. Genetics|May 2, 2025
Revealing secrets of human genetic variation with population databasesNicole J Lake
Bioinformatics (Oxford, England)|May 13, 2022
MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNANicole J Lake, Lily Zhou, Jenny Xu, et al.
Journal of Neuropathology and Experimental Neurology|May 16, 2015
Leigh syndrome: neuropathology and pathogenesisNicole J Lake, Matthew J Bird, Pirjo Isohanni, et al.
Trends in Genetics : TIG|July 31, 2022
Neuromuscular disorders: finding the missing genetic diagnosesKatherine E Koczwara, Nicole J Lake, Alec M DeSimone, et al.
Annals of Neurology|October 28, 2015
Leigh syndrome: One disorder, more than 75 monogenic causesNicole J Lake, Alison G Compton, Shamima Rahman, et al.
Journal of Neuromuscular Diseases|April 3, 2023
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic DatabasesNicole J Lake, Joel Phua, Wei Liu, et al.
Nature Communications|February 18, 2026
Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemiaSergiu Pasca, Yun Soo Hong, Wen Shi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesWei Liu, Sander Pajusalu, Nicole J Lake, et al.
Nature Communications|May 15, 2026
A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNALianting Fu, Jieyi Chen, Da Lian, et al.
Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Pageof 4