Nicole J. Lake

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon et al. · Brain · 2017 · 162 citations · Full text

Life Sciences, Genetics, Neurology +14

Mitochondrial DNA variation across 56,434 individuals in gnomAD

Kristen M. Laricchia, Nicole J. Lake, Nicholas A. Watts et al. · Genome Research · 2022 · 153 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud et al. · The American Journal of Human Genetics · 2017 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Wei Liu, Sander Pajusalu, Nicole J. Lake et al. · Genetics in Medicine · 2019 · 101 citations

Medicine, Bioinformatics, Biomedical Informatics +11