Nicole J Lake

Nicole J Lake

Yale University - New Haven / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 846925
person_outline Nicole J Lake's MOST POPULAR ARTICLES
1-) Leigh syndrome: one disorder, more than 75 monogenic causes Annals of neurology 79 (2), 190-203, 2016
2-) Leigh syndrome: neuropathology and pathogenesis Journal of Neuropathology & Experimental Neurology 74 (6), 482-492, 2015
3-) ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism Brain 140 (6), 1595-1610, 2017
4-) Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome The American Journal of Human Genetics 101 (2), 239-254, 2017
5-) Mitochondrial DNA variation across 56,434 individuals in gnomAD Genome research 32 (3), 569-582, 2022