Publication & Citation Trends
Most Cited Works
Publications
154 total
A genomic mutational constraint map using variation in 76,156 human genomes PDF
Cited by 1,205
OpenAlex
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans OA
Cited by 50
Semantic Scholar
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. OA
Cited by 16
Semantic Scholar
Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma OA
Cited by 16
Semantic Scholar
Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS OA
Cited by 79
Semantic Scholar
Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS. OA
Cited by 78
Semantic Scholar
Mitochondrial DNA variation across 56,434 individuals in gnomAD OA
Cited by 106
Semantic Scholar
Combinatorial G x G x E CRISPR screening and functional analysis highlights SLC25A39 in mitochondrial GSH transport OA
Cited by 4
Semantic Scholar
Research Topics
Mitochondrial Function and Pathology
(79)
Metabolism and Genetic Disorders
(37)
RNA modifications and cancer
(34)
Ferroptosis and cancer prognosis
(27)
Cancer, Lipids, and Metabolism
(20)
Frequent Co-Authors
Affiliations
Broad Institute
Brigham and Women's Hospital
Royal Children's Hospital
Howard Hughes Medical Institute
Harvard University