Mootha, Vamsi

Publication with MATCHING institution:

Kamer KJ, Mootha V (2014) MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium
uniporter. EMBO Reports. [IF=1.375, Cited=141, 24503055].
Lake NJ, Formosa LE, Stroud DA, ..., Thorburn DR (2019) A patient with homozygous nonsense variants in two Leigh
syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant. Human Mutation.
[IF=1.507, Cited=3, 30981218].
Walker MA, Li S, Livak KJ, ..., Mootha V (2024) T cell activation contributes to purifying selection against the MELAS-
associated m.3243A>G pathogenic variant in blood. Journal of Inherited Metabolic Disease. [IF=1.865, Cited=0, 38499449].
Musa S, Eyaid W, Kamer K, ..., Ben-Omran T (2018) A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic
Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients. JIMD Reports. [IF=0.731, Cited=36, 29721912].
Mootha V, Chinnery PF (2018) Oxygen in mitochondrial disease: can there be too much of a good thing? Journal of
Inherited Metabolic Disease. [IF=1.865, Cited=5, 29948481].
Rogers RS, Sharma R, Shah HB, ..., Mootha V (2024) Circulating N-lactoyl-amino acids and N-formyl-methionine reflect
mitochondrial dysfunction and predict mortality in septic shock. Metabolomics. [IF=1.002, Cited=0, 38446263].
Lake NJ, Webb BD, Stroud DA, ..., Thorburn DR (2017) Biallelic Mutations in MRPS34 Lead to Instability of the Small
Mitoribosomal Subunit and Leigh Syndrome. American Journal of Human Genetics. [IF=2.607, Cited=53, 28777931].
Feichtinger RG, Oláhová M, Kishita Y, ..., Prokisch H (2017) Biallelic C1QBP Mutations Cause Severe Neonatal-,
Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of
Human Genetics. [IF=2.607, Cited=38, 28942965].
Kamer KJ, Sancak Y, Mootha V (2014) The uniporter: from newly identified parts to function. Biochemical and Biophysical
Research Communications. [IF=0.643, Cited=19, 24814702].
Gopal RK, Kübler K, Calvo SE, ..., McFadden DG (2018) Widespread Chromosomal Losses and Mitochondrial DNA Alterations as
Genetic Drivers in Hürthle Cell Carcinoma. Cancer Cell. [IF=5.274, Cited=103, 30107175].
Guièze R, Liu VM, Rosebrock D, ..., Wu CJ (2019) Mitochondrial Reprogramming Underlies Resistance to BCL-2 Inhibition in
Lymphoid Malignancies. Cancer Cell. [IF=5.274, Cited=164, 31543463].
Li Y, Calvo SE, Gutman R, ..., Mootha V (2014) Expansion of biological pathways based on evolutionary inference. Cell.
[IF=8.479, Cited=69, 24995987].
Shen H, Campanello GC, Flicker D, ..., Mootha V (2017) The Human Knockout Gene CLYBL Connects Itaconate to Vitamin
B₁₂. Cell. [IF=8.479, Cited=60, 29056341].
Ast T, Meisel JD, Patra S, ..., Mootha V (2019) Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster
Biogenesis. Cell. [IF=8.479, Cited=55, 31031004].
To TL, Cuadros AM, Shah H, ..., Mootha V (2019) A Compendium of Genetic Modifiers of Mitochondrial Dysfunction Reveals
Intra-organelle Buffering. Cell. [IF=8.479, Cited=72, 31730859].
Jain IH, Calvo SE, Markhard AL, ..., Mootha V (2020) Genetic Screen for Cell Fitness in High or Low Oxygen Highlights
Mitochondrial and Lipid Metabolism. Cell. [IF=8.479, Cited=86, 32259488].
Meisel JD, Miranda M, Skinner OS, ..., Mootha V (2024) Hypoxia and intra-complex genetic suppressors rescue complex I
mutants by a shared mechanism. Cell. [IF=8.479, Cited=0, 38215760].
Wolf AR, Mootha V (2014) Functional genomic analysis of human mitochondrial RNA processing. Cell Reports. [IF=1.738,
Cited=60, 24746820].
Thompson Legault J, Strittmatter L, Tardif J, ..., Des Rosiers C (2015) A Metabolic Signature of Mitochondrial
Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell Reports. [IF=1.738, Cited=69, 26565911].
Flicker D, Sancak Y, Mick E, ..., Mootha V (2019) Exploring the In Vivo Role of the Mitochondrial Calcium Uniporter in
Brown Fat Bioenergetics. Cell Reports. [IF=1.738, Cited=20, 31042465].
Csordás G, Golenár T, Seifert EL, ..., Hajnóczky G (2013) MICU1 controls both the threshold and cooperative activation
of the mitochondrial Ca²⁺ uniporter. None. [IF=None, Cited=308, 23747253].
Dai N, Zhao L, Wrighting D, ..., Avruch J (2015) IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation
of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins. None. [IF=None, Cited=99, 25863250].
Arroyo JD, Jourdain AA, Calvo SE, ..., Mootha V (2016) A Genome-wide CRISPR Death Screen Identifies Genes Essential for
Oxidative Phosphorylation. None. [IF=None, Cited=157, 27667664].
Wang LW, Shen H, Nobre L, ..., Gewurz BE (2019) Epstein-Barr-Virus-Induced One-Carbon Metabolism Drives B Cell
Transformation. None. [IF=None, Cited=76, 31257153].
Jain IH, Zazzeron L, Goldberger O, ..., Mootha V (2019) Leigh Syndrome Mouse Model Can Be Rescued by Interventions that
Normalize Brain Hyperoxia, but Not HIF Activation. None. [IF=None, Cited=54, 31402314].
Singh C, Jin B, Shrestha N, ..., Goodman RP (2023) ChREBP is activated by reductive stress and mediates GCKR-associated
metabolic traits. None. [IF=None, Cited=2, 38101397].
LaMoia TE, Hubbard BT, Guerra MT, ..., Shulman GI (2024) Cytosolic calcium regulates hepatic mitochondrial oxidation,
intrahepatic lipolysis, and gluconeogenesis via CAMKII activation. None. [IF=None, Cited=0, 39153480].
Walker MA, Miranda M, Allred A, Mootha V (2021) On the dynamic and even reversible nature of Leigh syndrome: Lessons
from human imaging and mouse models. Current Opinion in Neurobiology. [IF=1.341, Cited=6, 34656053].
Meisel JD, Wiesenthal PP, Mootha V, Ruvkun G (2024) CMTR-1 RNA methyltransferase mutations activate widespread
expression of a dopaminergic neuron-specific mitochondrial complex I gene. Current Biology. [IF=1.81, Cited=0, 38810637].
Kishi S, Campanholle G, Gohil VM, ..., Bonventre JV (2015) Meclizine Preconditioning Protects the Kidney Against
Ischemia-Reperfusion Injury. eBioMedicine. [IF=1.909, Cited=25, 26501107].
Abdulaziz EN, Bell TA, Rashid B, ..., Cracan V (2022) A natural fusion of flavodiiron, rubredoxin, and rubredoxin
oxidoreductase domains is a self-sufficient water-forming oxidase of Trichomonas vaginalis. Journal of Biological
Chemistry. [IF=1.122, Cited=0, 35780837].
Joshi PR, Sadre S, Guo XA, ..., Mootha V (2023) Lipoylation is dependent on the ferredoxin FDX1 and dispensable under
hypoxia in human cells. Journal of Biological Chemistry. [IF=1.122, Cited=7, 37481209].
Gouda H, Ji Y, Rath S, ..., Banerjee R (2024) Differential utilization of vitamin B₁₂-dependent and
independent pathways for propionate metabolism across human cells. Journal of Biological Chemistry. [IF=1.122, Cited=0, 39128713].
Frazier AE, Compton AG, Kishita Y, ..., Thorburn DR (2020) Fatal perinatal mitochondrial cardiac failure caused by
recurrent de novo duplications in the ATAD3 locus. Med. [IF=1.611, Cited=22, 33575671].
Hung V, Zou P, Rhee HW, ..., Ting AY (2014) Proteomic mapping of the human mitochondrial intermembrane space in live
cells via ratiometric APEX tagging. Molecular Cell. [IF=2.773, Cited=267, 25002142].
Jourdain AA, Begg BE, Mick E, ..., Mootha V (2021) Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from
glycolysis to OXPHOS. Molecular Cell. [IF=2.773, Cited=26, 33852893].
Ast T, Itoh Y, Sadre S, ..., Mootha V (2024) METTL17 is an Fe-S cluster checkpoint for mitochondrial translation.
Molecular Cell. [IF=2.773, Cited=6, 38199006].
Lennerz BS, Vafai SB, Delaney NF, ..., Mootha V (2014) Effects of sodium benzoate, a widely used food preservative, on
glucose homeostasis and metabolic profiles in humans. Molecular Genetics and Metabolism. [IF=1.331, Cited=37, 25497115].
Grange RMH, Sharma R, Shah H, ..., Zapol WM (2021) Hypoxia ameliorates brain hyperoxia and NAD⁺ deficiency in
a murine model of Leigh syndrome. Molecular Genetics and Metabolism. [IF=1.331, Cited=14, 33752971].
Rietman A, Stanley TL, Clish C, ..., Makimura H (2016) Associations between plasma branched-chain amino acids,
β-aminoisobutyric acid and body composition. Journal of Nutritional Science. [IF=0.728, Cited=22, 27313851].
Wagner BK, Gilbert TJ, Hanai Ji, ..., Mootha V (2011) A small-molecule screening strategy to identify suppressors of
statin myopathy. ACS Chemical Biology. [IF=0.963, Cited=15, 21732624].
Shaham O, Wei R, Wang TJ, ..., Mootha V (2008) Metabolic profiling of the human response to a glucose challenge reveals
distinct axes of insulin sensitivity. Molecular Systems Biology. [IF=2.015, Cited=234, 18682704].
Oxenoid K, Dong Y, Cao C, ..., Chou JJ (2016) Architecture of the mitochondrial calcium uniporter. Nature. [IF=11.591,
Cited=150, 27135929].
Cracan V, Titov DV, Shen H, ..., Mootha V (2017) A genetically encoded tool for manipulation of NADP⁺/NADPH
in living cells. Nature Chemical Biology. [IF=2.623, Cited=47, 28805804].
Aebersold R, Agar JN, Amster IJ, ..., Zhang B (2018) How many human proteoforms are there? Nature Chemical Biology.
[IF=2.623, Cited=326, 29443976].
Nilsson R, Jain M, Madhusudhan N, ..., Mootha V (2014) Metabolic enzyme expression highlights a key role for MTHFD2 and
the mitochondrial folate pathway in cancer. Nature Communications. [IF=3.268, Cited=334, 24451681].
Lam SS, Martell JD, Kamer KJ, ..., Ting AY (2014) Directed evolution of APEX2 for electron microscopy and proximity
labeling. Nature Methods. [IF=10.009, Cited=633, 25419960].
Udeshi ND, Pedram K, Svinkina T, ..., Carr SA (2017) Antibodies to biotin enable large-scale detection of biotinylation
sites on proteins. Nature Methods. [IF=10.009, Cited=59, 29039416].
Kamer KJ, Mootha V (2015) The molecular era of the mitochondrial calcium uniporter. Nature Reviews Molecular Cell
Biology. [IF=19.213, Cited=184, 26285678].
Zhang Y, Guo R, Kim SH, ..., Gewurz BE (2021) SARS-CoV-2 hijacks folate and one-carbon metabolism for viral replication.
Nature Communications. [IF=3.268, Cited=77, 33723254].
Shi X, Reinstadler B, Shah H, ..., Shen H (2022) Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial
glutathione transport linking iron homeostasis to OXPHOS. Nature Communications. [IF=3.268, Cited=27, 35513392].
Nguyen NX, Armache JP, Lee C, ..., Jiang Y (2018) Cryo-EM structure of a fungal mitochondrial calcium uniporter. Nature.
[IF=11.591, Cited=79, 29995855].
Nguyen NX, Armache JP, Lee C, ..., Jiang Y (2018) Author Correction: Cryo-EM structure of a fungal mitochondrial calcium
uniporter. Nature. [IF=11.591, Cited=0, 30108362].
Goodman RP, Markhard AL, Shah H, ..., Mootha V (2020) Hepatic NADH reductive stress underlies common variation in
metabolic traits. Nature. [IF=11.591, Cited=71, 32461692].
Mok BY, de Moraes MH, Zeng J, ..., Liu DR (2020) A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial
base editing. Nature. [IF=11.591, Cited=275, 32641830].
Gupta R, Kanai M, Durham TJ, ..., Mootha V (2023) Nuclear genetic control of mtDNA copy number and heteroplasmy in
humans. Nature. [IF=11.591, Cited=19, 37587338].
Kotrys AV, Durham TJ, Guo XA, ..., Mootha V (2024) Single-cell analysis reveals context-dependent, cell-level selection
of mtDNA. Nature. [IF=11.591, Cited=0, 38658765].
Gupta R, Kanai M, Durham TJ, ..., Mootha V (2024) Author Correction: Nuclear genetic control of mtDNA copy number and
heteroplasmy in humans. Nature. [IF=11.591, Cited=0, 38831054].
Patgiri A, Skinner OS, Miyazaki Y, ..., Mootha V (2020) An engineered enzyme that targets circulating lactate to
alleviate intracellular NADH:NAD⁺ imbalance. Nature Biotechnology. [IF=8.861, Cited=51, 31932725].
Mok BY, Kotrys AV, Raguram A, ..., Liu DR (2022) CRISPR-free base editors with enhanced activity and expanded targeting
scope in mitochondrial and nuclear DNA. Nature Biotechnology. [IF=8.861, Cited=64, 35379961].
Peterson AA, Rangwala AM, Thakur MK, ..., Liu DR (2022) Discovery and molecular basis of subtype-selective cyclophilin
inhibitors. Nature Chemical Biology. [IF=2.623, Cited=8, 36163383].
Ast T, Mootha V (2019) Oxygen and mammalian cell culture: are we repeating the experiment of Dr. Ox? Nature Metabolism.
[IF=3.275, Cited=50, 32694740].
Skinner OS, Blanco-Fernández J, Goodman RP, ..., Jourdain AA (2023) Salvage of ribose from uridine or RNA supports
glycolysis in nutrient-limited conditions. Nature Metabolism. [IF=3.275, Cited=15, 37198474].
To TL, McCoy JG, Ostriker NK, ..., Mootha V (2024) PMF-seq: a highly scalable screening strategy for linking genetics to
mitochondrial bioenergetics. Nature Metabolism. [IF=3.275, Cited=0, 38413804].
Walker MA, Lareau CA, Ludwig LS, ..., Mootha V (2020) Purifying Selection against Pathogenic Mitochondrial DNA in Human
T Cells. New England Journal of Medicine. [IF=17.194, Cited=44, 32786181].
Ganetzky RD, Markhard AL, Yee I, ..., Mootha V (2022) Congenital Hypermetabolism and Uncoupled Oxidative
Phosphorylation. New England Journal of Medicine. [IF=17.194, Cited=6, 36239646].
Mootha V, Mootha VK, Handschin C, ..., Spiegelman BM (2004) Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative
phosphorylation gene expression that is altered in diabetic muscle. Proceedings of the National Academy of Sciences of
the United States of America. [IF=2.765, Cited=447, 15100410].
Subramanian A, Tamayo P, Mootha V, ..., Mesirov JP (2005) Gene set enrichment analysis: a knowledge-based approach for
interpreting genome-wide expression profiles. Proceedings of the National Academy of Sciences of the United States of
America. [IF=2.765, Cited=1000, 16199517].
Calvo SE, Pagliarini DJ, Mootha V (2009) Upstream open reading frames cause widespread reduction of protein expression
and are polymorphic among humans. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=531, 19372376].
Kovács-Bogdán E, Sancak Y, Kamer KJ, ..., Mootha V (2014) Reconstitution of the mitochondrial calcium uniporter in
yeast. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=94, 24889638].
Ferrari M, Jain IH, Goldberger O, ..., Zapol WM (2017) Hypoxia treatment reverses neurodegenerative disease in a mouse
model of Leigh syndrome. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=77, 28483998].
Delaney NF, Sharma R, Tadvalkar L, ..., Mootha V (2017) Metabolic profiles of exercise in patients with McArdle disease
or mitochondrial myopathy. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=23, 28716914].
Bick AG, Wakimoto H, Kamer KJ, ..., Seidman CE (2017) Cardiovascular homeostasis dependence on MICU2, a regulatory
subunit of the mitochondrial calcium uniporter. Proceedings of the National Academy of Sciences of the United States of
America. [IF=2.765, Cited=38, 29073106].
Gopal RK, Calvo SE, Shih AR, ..., Mootha V (2018) Early loss of mitochondrial complex I and rewiring of glutathione
metabolism in renal oncocytoma. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=52, 29915083].
Kamer KJ, Sancak Y, Fomina Y, ..., Mootha V (2018) MICU1 imparts the mitochondrial uniporter with the ability to
discriminate between Ca²⁺ and Mn²⁺. Proceedings of the National Academy of Sciences of the United
States of America. [IF=2.765, Cited=43, 30082385].
Kamer KJ, Jiang W, Kaushik VK, ..., Grabarek Z (2019) Crystal structure of MICU2 and comparison with MICU1 reveal
insights into the uniporter gating mechanism. Proceedings of the National Academy of Sciences of the United States of
America. [IF=2.765, Cited=30, 30755530].
Ghosh S, Basu Ball W, Madaris TR, ..., Gohil VM (2020) An essential role for cardiolipin in the stability and function
of the mitochondrial calcium uniporter. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=41, 32601238].
Markhard AL, McCoy JG, To TL, Mootha V (2022) A genetically encoded system for oxygen generation in living cells.
Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=3, 36215519].
Sinha A, Köhrer C, Weber MHW, ..., RajBhandary UL (2014) Biochemical characterization of pathogenic mutations in human
mitochondrial methionyl-tRNA formyltransferase. Journal of Biological Chemistry. [IF=1.122, Cited=10, 25288793].
Goodman RP, Calvo SE, Mootha V (2018) Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism. Journal
of Biological Chemistry. [IF=1.122, Cited=61, 29514978].
Calvo SE, Julien O, Clauser KR, ..., Mootha V (2017) Comparative Analysis of Mitochondrial N-Termini from Mouse, Human,
and Yeast. Molecular and Cellular Proteomics. [IF=1.296, Cited=40, 28122942].
Chen H, Ren S, Clish C, ..., Chan DC (2015) Titration of mitochondrial fusion rescues Mff-deficient cardiomyopathy.
Journal of Cell Biology. [IF=1.509, Cited=89, 26598616].
Mootha V, Wei MC, Buttle KF, ..., Korsmeyer SJ (2001) A reversible component of mitochondrial respiratory dysfunction in
apoptosis can be rescued by exogenous cytochrome c. EMBO Journal. [IF=2.114, Cited=112, 11179211].
Amarasekera SSC, Hock DH, Lake NJ, ..., Compton AG (2023) Multi-omics identifies large mitoribosomal subunit instability
caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Human Molecular Genetics.
[IF=1.158, Cited=4, 37133451].
Ast T, Wang H, Marutani E, ..., Mootha V (2023) Continuous, but not intermittent, regimens of hypoxia prevent and
reverse ataxia in a murine model of Friedreich's ataxia. Human Molecular Genetics. [IF=1.158, Cited=1, 37260376].
Garone C, D'Souza AR, Dallabona C, ..., Minczuk M (2017) Defective mitochondrial rRNA methyltransferase MRM2 causes
MELAS-like clinical syndrome. Human Molecular Genetics. [IF=1.158, Cited=43, 28973171].
Siegmund SE, Yang H, Sharma R, ..., Schon EA (2017) Low-dose rapamycin extends lifespan in a mouse model of mtDNA
depletion syndrome. Human Molecular Genetics. [IF=1.158, Cited=48, 28973153].
Rath S, Sharma R, Gupta R, ..., Mootha V (2021) MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle
localization and pathway annotations. Nucleic Acids Research. [IF=4.663, Cited=491, 33174596].
Calvo SE, Clauser KR, Mootha V (2015) MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic
Acids Research. [IF=4.663, Cited=728, 26450961].
Gupta R, Kanai M, Durham TJ, ..., Mootha V (2023) Nuclear genetic control of mtDNA copy number and heteroplasmy in
humans. None. [IF=None, Cited=0, 36711677].
Laricchia KM, Lake NJ, Watts NA, ..., Calvo SE (2022) Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Genome Research. [IF=1.745, Cited=40, 35074858].
McCormack SE, Shaham O, McCarthy MA, ..., Fleischman A (2012) Circulating branched-chain amino acid concentrations are
associated with obesity and future insulin resistance in children and adolescents. Pediatric obesity. [IF=1.173,
Cited=247, 22961720].
Bick AG, Calvo SE, Mootha V (2012) Evolutionary diversity of the mitochondrial calcium uniporter. Science. [IF=7.729,
Cited=111, 22605770].
Jain M, Nilsson R, Sharma S, ..., Mootha V (2012) Metabolite profiling identifies a key role for glycine in rapid cancer
cell proliferation. Science. [IF=7.729, Cited=832, 22628656].
Rhee HW, Zou P, Udeshi ND, ..., Ting AY (2013) Proteomic mapping of mitochondria in living cells via spatially
restricted enzymatic tagging. Science. [IF=7.729, Cited=643, 23371551].
Sancak Y, Markhard AL, Kitami T, ..., Mootha V (2013) EMRE is an essential component of the mitochondrial calcium
uniporter complex. Science. [IF=7.729, Cited=389, 24231807].
Vafai SB, Mootha V (2013) Medicine. A common pathway for a rare disease? Science. [IF=7.729, Cited=20, 24357304].
Titov DV, Cracan V, Goodman RP, ..., Mootha V (2016) Complementation of mitochondrial electron transport chain by
manipulation of the NAD+/NADH ratio. Science. [IF=7.729, Cited=182, 27124460].
Jain IH, Zazzeron L, Goli R, ..., Mootha V (2016) Hypoxia as a therapy for mitochondrial disease. Science. [IF=7.729,
Cited=232, 26917594].
Ruetz M, Campanello GC, Purchal M, ..., Banerjee R (2019) Itaconyl-CoA forms a stable biradical in methylmalonyl-CoA
mutase and derails its activity and repair. Science. [IF=7.729, Cited=49, 31672889].
Shivaraju M, Chitta UK, Grange RMH, ..., Rajagopal J (2021) Airway stem cells sense hypoxia and differentiate into
protective solitary neuroendocrine cells. Science. [IF=7.729, Cited=41, 33384370].
Calvo SE, Compton AG, Hershman SG, ..., Mootha V (2012) Molecular diagnosis of infantile mitochondrial disease with
targeted next-generation sequencing. Science Translational Medicine. [IF=2.778, Cited=229, 22277967].
Calvo SE, Mootha V (2010) The mitochondrial proteome and human disease. Annual Review of Genomics and Human Genetics.
[IF=2.394, Cited=325, 20690818].
Giallourakis C, Henson C, Reich M, ..., Mootha V (2005) Disease gene discovery through integrative genomics. Annual
Review of Genomics and Human Genetics. [IF=2.394, Cited=41, 16124867].
Jain M, Ngoy S, Sheth SA, ..., Nilsson R (2014) A systematic survey of lipids across mouse tissues. American Journal of
Physiology - Endocrinology and Metabolism. [IF=1.181, Cited=43, 24518676].
Schleifer G, Marutani E, Ferrari M, ..., Zapol WM (2018) Impaired hypoxic pulmonary vasoconstriction in a mouse model of
Leigh syndrome. American Journal of Physiology - Lung Cellular and Molecular Physiology. [IF=0.96, Cited=3, 30520688].
Gopal RK, Vantaku VR, Panda A, ..., Mootha V (2023) Effectors Enabling Adaptation to Mitochondrial Complex I Loss in
Hürthle Cell Carcinoma. Cancer Discovery. [IF=3.608, Cited=4, 37262067].
Mootha V, Feldman J, Mannting F, ..., Johnson W (2000) Pheochromocytoma-induced cardiomyopathy. Circulation. [IF=6.144,
Cited=11, 10880429].
Lee JH, Gohil VM, Heidari P, ..., Ayata C (2024) Mechanism of Action and Translational Potential of (S)-Meclizine
in Preemptive Prophylaxis Against Stroke. Stroke. [IF=2.734, Cited=0, 38572656].
Sharma R, Reinstadler B, Engelstad K, ..., Mootha V (2021) Circulating markers of NADH-reductive stress correlate with
mitochondrial disease severity. Journal of Clinical Investigation. [IF=2.423, Cited=65, 33463549].
Wang Z, Guo R, Trudeau SJ, ..., Gewurz BE (2021) CYB561A3 is the key lysosomal iron reductase required for Burkitt
B-cell growth and survival. Blood. [IF=2.983, Cited=12, 34232987].
Tamaroff J, Nguyen S, Wilson NE, ..., McCormack SE (2024) Insulin sensitivity and insulin secretion in adults with
Friedreich's Ataxia: the role of skeletal muscle. Journal of Clinical Endocrinology and Metabolism. [IF=1.766, Cited=0, 39109797].
Mancuso M, Filosto M, Mootha V, ..., Siciliano G (2004) A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.
Neurology. [IF=2.47, Cited=42, 15184630].
Lewis-Smith D, Kamer KJ, Griffin H, ..., Chinnery PF (2016) Homozygous deletion in MICU1 presenting with fatigue and
lethargy in childhood. Neurology: Genetics. [IF=1.05, Cited=64, 27123478].
Lieber DS, Calvo SE, Shanahan K, ..., Mootha V (2013) Targeted exome sequencing of suspected mitochondrial disorders.
Neurology. [IF=2.47, Cited=101, 23596069].
Rogers RS, Wang H, Durham TJ, ..., Mootha V (2023) Hypoxia extends lifespan and neurological function in a mouse model
of aging. PLoS Biology. [IF=2.285, Cited=5, 37220109].
Li Y, Jourdain AA, Calvo SE, ..., Mootha V (2017) CLIC, a tool for expanding biological pathways based on co-expression
across thousands of datasets. PLoS Computational Biology. [IF=1.278, Cited=18, 28719601].
Vafai SB, Mevers E, Higgins KW, ..., Mootha V (2016) Natural Product Screening Reveals Naphthoquinone Complex I Bypass
Factors. PLoS ONE. [IF=1.253, Cited=14, 27622560].
Perales-Clemente E, Cook AN, Evans JM, ..., Nelson TJ (2016) Natural underlying mtDNA heteroplasmy as a potential source
of intra-person hiPSC variability. EMBO Journal. [IF=2.114, Cited=46, 27436875].
Hathazi D, Griffin H, Jennings MJ, ..., Horvath R (2020) Metabolic shift underlies recovery in reversible infantile
respiratory chain deficiency. EMBO Journal. [IF=2.114, Cited=17, 33128823].
Kamer KJ, Grabarek Z, Mootha V (2017) High-affinity cooperative Ca²⁺ binding by MICU1-MICU2 serves as an on-
off switch for the uniporter. EMBO Reports. [IF=1.375, Cited=86, 28615291].
Gewurz B, Guo R, Lim M, ..., Mootha V (2024) Multi-omic Analysis of Human B-cell Activation Reveals a Key Lysosomal
BCAT1 Role in mTOR Hyperactivation by B-cell receptor and TLR9. None. [IF=None, Cited=0, 38854072].
MacEwen MJ, Markhard AL, Bozbeyoglu M, ..., Sancak Y (2020) Evolutionary divergence reveals the molecular basis of EMRE
dependence of the human MCU. Life Science Alliance. [IF=0.901, Cited=4, 32769116].
Berra L, Medeiros KJ, Marrazzo F, ..., Mootha V (2024) Feasibility of Delivering a 5-Day Normobaric Hypoxia Breathing in
Healthy Volunteers in a Hospital Setting. Respiratory Care. [IF=0.977, Cited=0, 39079724].
Chaudhuri D, Sancak Y, Mootha V, Clapham DE (2013) MCU encodes the pore conducting mitochondrial calcium currents.
eLife. [IF=1.743, Cited=121, 23755363].
Bao XR, Ong SE, Goldberger O, ..., Mootha V (2016) Mitochondrial dysfunction remodels one-carbon metabolism in human
cells. eLife. [IF=1.743, Cited=189, 27307216].
Hung V, Lam SS, Udeshi ND, ..., Ting AY (2017) Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes
in living human cells by proximity biotinylation. eLife. [IF=1.743, Cited=175, 28441135].
Mick E, Titov DV, Skinner OS, ..., Mootha V (2020) Distinct mitochondrial defects trigger the integrated stress response
depending on the metabolic state of the cell. eLife. [IF=1.743, Cited=81, 32463360].
Wang Y, Han Y, She J, ..., Jiang Y (2020) Structural insights into the Ca²⁺-dependent gating of the human
mitochondrial calcium uniporter. eLife. [IF=1.743, Cited=24, 32762847].
Gupta R, Karczewski KJ, Howrigan D, ..., Mootha V (2021) Human genetic analyses of organelles highlight the nucleus in
age-related trait heritability. eLife. [IF=1.743, Cited=7, 34467851].

Publication with MISMATCHING institution:

Mootha V, Dawson D, Kumar A, ..., Albert DM (2004) Slitlamp, specular, and light microscopic findings of human donor
corneas after laser-assisted in situ keratomileusis. None. [IF=None, Cited=10, 15136315].
Mootha V, Dawson D, Kumar A, ..., Albert DM (2004) Microbial keratitis identified during eye bank screen of
corneoscleral tissue harvested from patients with laser in situ keratomileusis history. None. [IF=None, Cited=1, 15249375].
Mootha V, Cowden TP, Sires BS, Dortzbach RK (1997) Subperiosteal orbital hemorrhage from retrobulbar injection resulting
in blindness. None. [IF=None, Cited=15, 9006441].
Soliman AZ, Xing C, Radwan SH, ..., Mootha V (2015) Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With
Triplet Repeat Expansion in TCF4. JAMA Ophthalmology. [IF=2.775, Cited=34, 26401622].
Gray MW, Mootha V (2018) Evolutionary mitochondrial biology in titisee. IUBMB Life. [IF=0.917, Cited=0, 30358089].
Mootha V, French S, Balaban RS (1996) Neutral carrier-based "Ca(2+)-selective" microelectrodes for the measurement of
tetraphenylphosphonium. Analytical Biochemistry. [IF=0.706, Cited=6, 8660512].
Mootha V, Tesser R, Qualls C (2004) Incidence of and risk factors for residual posterior capsule opacification after
cataract surgery. Journal of Cataract and Refractive Surgery. [IF=1.561, Cited=12, 15519088].
Lynds R, Hansen B, Blomquist PH, Mootha V (2018) Supervised resident manual small-incision cataract surgery outcomes at
large urban United States residency training program. Journal of Cataract and Refractive Surgery. [IF=1.561, Cited=11, 29502616].
Vishnu N, Hamilton A, Bagge A, ..., Mulder H (2021) Mitochondrial clearance of calcium facilitated by MICU2 controls
insulin secretion. Molecular Metabolism. [IF=1.779, Cited=9, 33932586].
Gillings M, Mastro A, Zhang X, ..., Mootha V (2022) Loss of Corneal Nerves and Corneal Haze in Patients with Fuchs'
Endothelial Corneal Dystrophy with the Transcription Factor 4 Gene Trinucleotide Repeat Expansion. None. [IF=None,
Cited=2, 36275201].
Mootha V, Mootha VK, Bunkenborg J, ..., Mann M (2003) Integrated analysis of protein composition, tissue diversity, and
gene regulation in mouse mitochondria. Cell. [IF=8.479, Cited=565, 14651853].
Hu J, Shen X, Kheirabadi M, ..., Corey DR (2023) Targeting the Expanded TCF4/Fuchs' Endothelial Corneal Dystrophy
CUG Repeat with Morpholino Peptide Conjugates. ACS Omega. [IF=0.941, Cited=0, 38024683].
Afshari NA, Igo RP, Morris NJ, ..., Iyengar SK (2017) Genome-wide association study identifies three novel loci in Fuchs
endothelial corneal dystrophy. Nature Communications. [IF=3.268, Cited=65, 28358029].
Mootha V, Mootha VK, Lindgren CM, ..., Groop LC (2003) PGC-1alpha-responsive genes involved in oxidative phosphorylation
are coordinately downregulated in human diabetes. Nature Genetics. [IF=6.89, Cited=1000, 12808457].
Shaham O, Slate NG, Goldberger O, ..., Mootha V (2010) A plasma signature of human mitochondrial disease revealed
through metabolic profiling of spent media from cultured muscle cells. Proceedings of the National Academy of Sciences
of the United States of America. [IF=2.765, Cited=92, 20080599].
Mootha V, Mootha VK, Lepage P, ..., Lander ES (2003) Identification of a gene causing human cytochrome c oxidase
deficiency by integrative genomics. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=366, 12529507].
Saboo US, Penke D, Mahindrakar A, ..., Mootha V (2016) Exome sequencing reveals novel homozygous FOXE3 mutation in
microphthalmos with staphylomatous malformation. Ophthalmic Genetics. [IF=0.664, Cited=7, 27669367].
Hu J, Shen X, Rigo F, ..., Corey DR (2019) Duplex RNAs and ss-siRNAs Block RNA Foci Associated with Fuchs' Endothelial
Corneal Dystrophy. Nucleic Acid Therapeutics. [IF=0.749, Cited=9, 30676271].
Chau VQ, Hu J, Gong X, ..., Mootha V (2020) Delivery of Antisense Oligonucleotides to the Cornea. Nucleic Acid
Therapeutics. [IF=0.749, Cited=8, 32202944].
Hu J, Gong X, Fan Y, ..., Mootha V (2023) Modulation of Gene Expression in the Eye with Antisense Oligonucleotides.
Nucleic Acid Therapeutics. [IF=0.749, Cited=0, 37917066].
Hu J, Rong Z, Gong X, ..., Mootha V (2018) Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and
mis-splicing in Fuchs' dystrophy. Human Molecular Genetics. [IF=1.158, Cited=36, 29325021].
Chu Y, Hu J, Liang H, ..., Mootha V (2020) Analyzing pre-symptomatic tissue to gain insights into the molecular and
mechanistic origins of late-onset degenerative trinucleotide repeat disease. Nucleic Acids Research. [IF=4.663,
Cited=16, 32463444].
Ganne P, Mootha V, Mahindrakar A, Adusumilli H (2024) Sturge Weber syndrome and rod cone dystrophy. QJM - Monthly
Journal of the Association of Physicians. [IF=1.051, Cited=0, 37572312].
Mootha V, Pingree M, Jaramillo J (2004) Pterygia with deep corneal changes. Cornea. [IF=1.599, Cited=13, 15257006].
Waldrop WH, Gillings MJ, Robertson DM, ..., Mootha V (2020) Lower Corneal Haze and Aberrations in Descemet Membrane
Endothelial Keratoplasty Versus Descemet Stripping Automated Endothelial Keratoplasty in Fellow Eyes for Fuchs
Endothelial Corneal Dystrophy. Cornea. [IF=1.599, Cited=4, 32639312].
Mootha V, Heck E, Verity SM, ..., Cavanagh HD (2011) Comparative study of descemet stripping automated endothelial
keratoplasty donor preparation by Moria CBm microkeratome, horizon microkeratome, and Intralase FS60. Cornea. [IF=1.599,
Cited=33, 21304290].
Territo PR, Mootha V, French SA, Balaban RS (2000) Ca(2+) activation of heart mitochondrial oxidative phosphorylation:
role of the F(0)/F(1)-ATPase. American Journal of Physiology - Cell Physiology. [IF=1.178, Cited=241, 10666039].
Mootha V, Arai AE, Balaban RS (1997) Maximum oxidative phosphorylation capacity of the mammalian heart. None. [IF=None,
Cited=67, 9124437].
Zhang X, Igo RP, Fondran J, ..., Iyengar SK (2013) Association of smoking and other risk factors with Fuchs' endothelial
corneal dystrophy severity and corneal thickness. Investigative Ophthalmology and Visual Science. [IF=1.361, Cited=29, 23882692].
Mootha V, Gong X, Ku HC, Xing C (2014) Association and familial segregation of CTG18.1 trinucleotide repeat expansion of
TCF4 gene in Fuchs' endothelial corneal dystrophy. Investigative Ophthalmology and Visual Science. [IF=1.361, Cited=65, 24255041].
Xing C, Gong X, Hussain I, ..., Mootha V (2014) Transethnic replication of association of CTG18.1 repeat expansion of
TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant. Investigative Ophthalmology and Visual
Science. [IF=1.361, Cited=48, 25298419].
Mootha V, Hussain I, Cunnusamy K, ..., Petroll WM (2015) TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs'
Endothelial Corneal Dystrophy. Investigative Ophthalmology and Visual Science. [IF=1.361, Cited=58, 25722209].
Mootha V, Hansen B, Rong Z, ..., Gong X (2017) Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With
Myotonic Dystrophy. Investigative Ophthalmology and Visual Science. [IF=1.361, Cited=29, 28886202].
Saade JS, Xing C, Gong X, ..., Mootha V (2018) Instability of TCF4 Triplet Repeat Expansion With Parent-Child
Transmission in Fuchs' Endothelial Corneal Dystrophy. Investigative Ophthalmology and Visual Science. [IF=1.361,
Cited=4, 30098193].
Rong Z, Hu J, Corey DR, Mootha V (2019) Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA
Foci Support Involvement in the Mechanism of Fuchs' Dystrophy. Investigative Ophthalmology and Visual Science.
[IF=1.361, Cited=14, 31560764].
Leonard BC, Park S, Kim S, ..., Thomasy SM (2023) Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-
Onset Fuchs' Endothelial Corneal Dystrophy. Investigative Ophthalmology and Visual Science. [IF=1.361, Cited=1, 37074694].
Hu J, Gong X, Johnson ST, ..., Mootha V (2023) The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal
Dystrophy: Implications for the Anterior Segment of the Eye. Investigative Ophthalmology and Visual Science. [IF=1.361,
Cited=2, 37204786].
Rong Z, Gong X, Hulleman JD, ..., Mootha V (2020) Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for
Fuchs' Endothelial Corneal Dystrophy. Translational Vision Science and Technology. [IF=1.047, Cited=9, 32934897].
Quinzii CM, Kattah AG, Naini A, ..., Hirano M (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an
aprataxin mutation. Neurology. [IF=2.47, Cited=107, 15699391].
Soh YQ, Peh Swee Lim G, Htoon HM, ..., Mehta JS (2019) Trinucleotide repeat expansion length as a predictor of the
clinical progression of Fuchs' Endothelial Corneal Dystrophy. PLoS ONE. [IF=1.253, Cited=8, 30682148].
Zhang X, Kumar A, Sathe AA, ..., Xing C (2023) Transcriptomic meta-analysis reveals ERRα-mediated oxidative
phosphorylation is downregulated in Fuchs' endothelial corneal dystrophy. PLoS ONE. [IF=1.253, Cited=0, 38096202].
Anwar DS, Kruger MM, Mootha V (2014) Blunt scissors stromal dissection technique for deep anterior lamellar
keratoplasty. Clinical Ophthalmology. [IF=1.16, Cited=5, 25258506].
Pitteloud N, Mootha V, Dwyer AA, ..., Hayes FJ (2005) Relationship between testosterone levels, insulin sensitivity, and
mitochondrial function in men. Diabetes Care. [IF=4.781, Cited=235, 15983313].
Mootha V, Schluter ML, Das A (2002) Intraocular hemorrhages due to warfarin fluconazole drug interaction in a patient
with presumed Candida endophthalmitis. None. [IF=None, Cited=0, 11786068].
Mootha V, Kanoff JM, Shankardas J, Dimitrijevich S (2009) Marked reduction of alcohol dehydrogenase in keratoconus
corneal fibroblasts. Molecular Vision. [IF=0.904, Cited=0, 19365573].
Mootha V, Agarwal R, Singh N, ..., Jindal SK (2011) Medical thoracoscopy for undiagnosed pleural effusions: experience
from a tertiary care hospital in north India. None. [IF=None, Cited=0, 21446220].
Ali Z, Xing C, Anwar D, ..., Mootha V (2014) A novel de novo KIF21A mutation in a patient with congenital fibrosis of
the extraocular muscles and Möbius syndrome. Molecular Vision. [IF=0.904, Cited=0, 24715754].
Hulleman JD, Nguyen A, Ramprasad VL, ..., Mootha V (2016) A novel H395R mutation in MKKS/BBS6 causes retinitis
pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. Molecular Vision.
[IF=0.904, Cited=0, 26900326].
Woodard DR, Xing C, Ganne P, ..., Mootha V (2021) A novel homozygous missense mutation p.P388S in TULP1 causes
protein instability and retinitis pigmentosa. Molecular Vision. [IF=0.904, Cited=0, 33907372].

Publication with MISSING institution:

Garone C, Rubio JC, Calvo SE, ..., Hirano M (2012) MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With
Multiple Mitochondrial DNA Deletions. None. [IF=None, Cited=45, 22964873].
Ogirala GK, Raju VK, Pradesh A, ..., Mootha V (2003) Nematode in the anterior chamber. None. [IF=None, Cited=0, 12963624].
Wamsley S, Patel SM, Wood MG, ..., Mootha V (2005) Advanced keratomalacia with descemetocele in an infant with cystic
fibrosis. None. [IF=None, Cited=9, 16009849].
Garone C, Donati MA, Sacchini M, ..., Dimauro S (2013) Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
JAMA Neurology. [IF=5.982, Cited=28, 23836383].
Balaban RS, Mootha V, Arai A (1996) Spectroscopic determination of cytochrome c oxidase content in tissues containing
myoglobin or hemoglobin. Analytical Biochemistry. [IF=0.706, Cited=58, 8660576].
Ajroud-Driss S, Fecto F, Ajroud K, ..., Siddique T (2014) Mutation in the novel nuclear-encoded mitochondrial protein
CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics. [IF=0.774, Cited=69, 25193783].
Singh N, Mootha V, Madan K, ..., Behera D (2013) Tumor cavitation among lung cancer patients receiving first-line
chemotherapy at a tertiary care centre in India: association with histology and overall survival. Medical Oncology.
[IF=0.774, Cited=12, 23673987].
Wu Z, Puigserver P, Andersson U, ..., Spiegelman BM (1999) Mechanisms controlling mitochondrial biogenesis and
respiration through the thermogenic coactivator PGC-1. Cell. [IF=8.479, Cited=1000, 10412986].
Setoguchi S, Higgins JM, Mogun H, ..., Avorn J (2010) Propranolol and the risk of hospitalized myopathy: translating
chemical genomics findings into population-level hypotheses. American Heart Journal. [IF=1.451, Cited=5, 20211305].
Sugiana C, Pagliarini DJ, McKenzie M, ..., Thorburn DR (2008) Mutation of C20orf7 disrupts complex I assembly and causes
lethal neonatal mitochondrial disease. American Journal of Human Genetics. [IF=2.607, Cited=111, 18940309].
Hildick-Smith GJ, Cooney JD, Garone C, ..., Paw BH (2013) Macrocytic anemia and mitochondriopathy resulting from a
defect in sideroflexin 4. American Journal of Human Genetics. [IF=2.607, Cited=36, 24119684].
Lake NJ, Webb BD, Stroud DA, ..., Thorburn DR (2018) Biallelic Mutations in MRPS34 Lead to Instability of the Small
Mitoribosomal Subunit and Leigh Syndrome. American Journal of Human Genetics. [IF=2.607, Cited=11, 29625026].
Di Pascuale MA, Prasher P, Schlecte C, ..., Mootha V (2009) Corneal deturgescence after Descemet stripping automated
endothelial keratoplasty evaluated by Visante anterior segment optical coherence tomography. American Journal of
Ophthalmology. [IF=2.231, Cited=30, 19327750].
Lin J, Wu PH, Tarr PT, ..., Spiegelman BM (2004) Defects in adaptive energy metabolism with CNS-linked hyperactivity in
PGC-1alpha null mice. Cell. [IF=8.479, Cited=820, 15454086].
Foster LJ, de Hoog CL, Zhang Y, ..., Mann M (2006) A mammalian organelle map by protein correlation profiling. Cell.
[IF=8.479, Cited=354, 16615899].
Pagliarini DJ, Calvo SE, Chang B, ..., Mootha V (2008) A mitochondrial protein compendium elucidates complex I disease
biology. Cell. [IF=8.479, Cited=1000, 18614015].
Ye L, Kleiner S, Wu J, ..., Spiegelman BM (2012) TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and
energy homeostasis. Cell. [IF=8.479, Cited=206, 23021218].
Chakravarti A, Clark AG, Mootha V (2013) Distilling pathophysiology from complex disease genetics. Cell. [IF=8.479,
Cited=49, 24074858].
Rensvold JW, Ong SE, Jeevananthan A, ..., Pagliarini DJ (2013) Complementary RNA and protein profiling identifies iron
as a key regulator of mitochondrial biogenesis. Cell Reports. [IF=1.738, Cited=57, 23318259].
Nilsson R, Schultz IJ, Pierce EL, ..., Mootha V (2009) Discovery of genes essential for heme biosynthesis through large-
scale gene expression analysis. None. [IF=None, Cited=132, 19656490].
Tucker EJ, Hershman SG, Köhrer C, ..., Mootha V (2011) Mutations in MTFMT underlie a human disorder of formylation
causing impaired mitochondrial translation. None. [IF=None, Cited=105, 21907147].
Hu MY, McCulley JP, Cavanagh HD, ..., Petroll WM (2007) Comparison of the corneal response to laser in situ
keratomileusis with flap creation using the FS15 and FS30 femtosecond lasers: clinical and confocal microscopy findings.
Journal of Cataract and Refractive Surgery. [IF=1.561, Cited=18, 17397742].
Muftuoglu O, Prasher P, Chu C, ..., McCulley JP (2009) Laser in situ keratomileusis for residual refractive errors after
apodized diffractive multifocal intraocular lens implantation. Journal of Cataract and Refractive Surgery. [IF=1.561,
Cited=29, 19465293].
Prasher P, Muftuoglu O, Bowman RW, ..., Mootha V (2010) Corneal power measurement with a rotating Scheimpflug imaging
system after Descemet-stripping automated endothelial keratoplasty. Journal of Cataract and Refractive Surgery.
[IF=1.561, Cited=8, 20656160].
Muftuoglu O, Dao L, Mootha V, ..., McCulley JP (2010) Apodized diffractive intraocular lens implantation after laser in
situ keratomileusis with or without subsequent excimer laser enhancement. Journal of Cataract and Refractive Surgery.
[IF=1.561, Cited=15, 21029886].
Mootha V, Agarwal R, Aggarwal AN, ..., Bal A (2010) The Sarcoid-Tuberculosis link: evidence from a high TB prevalence
country. Journal of Infection. [IF=2.791, Cited=10, 20346973].
Arey ML, Mootha V, Whittemore AR, ..., Blomquist PH (2007) Computed tomography in the diagnosis of occult open-globe
injuries. Ophthalmology. [IF=4.3, Cited=29, 17678689].
Muftuoglu O, Prasher P, Bowman RW, ..., Mootha V (2010) Corneal higher-order aberrations after Descemet's stripping
automated endothelial keratoplasty. Ophthalmology. [IF=4.3, Cited=43, 20346512].
Leoni V, Strittmatter L, Zorzi G, ..., Tiranti V (2011) Metabolic consequences of mitochondrial coenzyme A deficiency in
patients with PANK2 mutations. Molecular Genetics and Metabolism. [IF=1.331, Cited=68, 22221393].
Zhang CY, Hagen T, Mootha V, ..., Lowell BB (1999) Assessment of uncoupling activity of uncoupling protein 3 using a
yeast heterologous expression system. FEBS Letters. [IF=0.871, Cited=60, 10338118].
Levin LA, Mootha V (1997) Postprandial transient visual loss. A symptom of critical carotid stenosis. Ophthalmology.
[IF=4.3, Cited=13, 9082262].
Puigserver P, Rhee J, Lin J, ..., Spiegelman BM (2001) Cytokine stimulation of energy expenditure through p38 MAP kinase
activation of PPARgamma coactivator-1. Molecular Cell. [IF=2.773, Cited=487, 11741533].
Xie X, Lu J, Kulbokas EJ, ..., Kellis M (2005) Systematic discovery of regulatory motifs in human promoters and 3' UTRs
by comparison of several mammals. Nature. [IF=11.591, Cited=1000, 15735639].
Cunningham JT, Rodgers JT, Arlow DH, ..., Puigserver P (2007) mTOR controls mitochondrial oxidative function through a
YY1-PGC-1alpha transcriptional complex. Nature. [IF=11.591, Cited=904, 18046414].
Perocchi F, Gohil VM, Girgis HS, ..., Mootha V (2010) MICU1 encodes a mitochondrial EF hand protein required for Ca(2+)
uptake. Nature. [IF=11.591, Cited=553, 20693986].
Baughman JM, Perocchi F, Girgis HS, ..., Mootha V (2011) Integrative genomics identifies MCU as an essential component
of the mitochondrial calcium uniporter. Nature. [IF=11.591, Cited=1000, 21685886].
Vafai SB, Mootha V (2012) Mitochondrial disorders as windows into an ancient organelle. Nature. [IF=11.591, Cited=417, 23151580].
Gohil VM, Sheth SA, Nilsson R, ..., Mootha V (2010) Nutrient-sensitized screening for drugs that shift energy metabolism
from mitochondrial respiration to glycolysis. Nature Biotechnology. [IF=8.861, Cited=205, 20160716].
Martell JD, Deerinck TJ, Sancak Y, ..., Ting AY (2012) Engineered ascorbate peroxidase as a genetically encoded reporter
for electron microscopy. Nature Biotechnology. [IF=8.861, Cited=363, 23086203].
Wagner BK, Kitami T, Gilbert TJ, ..., Mootha V (2008) Large-scale chemical dissection of mitochondrial function. Nature
Biotechnology. [IF=8.861, Cited=131, 18297058].
Kornblum C, Nicholls TJ, Haack TB, ..., Prokisch H (2013) Loss-of-function mutations in MGME1 impair mtDNA replication
and cause multisystemic mitochondrial disease. Nature Genetics. [IF=6.89, Cited=138, 23313956].
Calvo SE, Tucker EJ, Compton AG, ..., Mootha V (2010) High-throughput, pooled sequencing identifies mutations in NUBPL
and FOXRED1 in human complex I deficiency. Nature Genetics. [IF=6.89, Cited=222, 20818383].
Mootha V, Hirschhorn JN (2010) Inborn variation in metabolism. Nature Genetics. [IF=6.89, Cited=13, 20104246].
Baughman JM, Mootha V (2006) Buffering mitochondrial DNA variation. Nature Genetics. [IF=6.89, Cited=10, 17072298].
Spinazzola A, Viscomi C, Fernandez-Vizarra E, ..., Zeviani M (2006) MPV17 encodes an inner mitochondrial membrane
protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nature Genetics. [IF=6.89, Cited=265, 16582910].
Calvo S, Jain M, Xie X, ..., Mootha V (2006) Systematic identification of human mitochondrial disease genes through
integrative genomics. Nature Genetics. [IF=6.89, Cited=215, 16582907].
Wang TJ, Larson MG, Vasan RS, ..., Gerszten RE (2011) Metabolite profiles and the risk of developing diabetes. Nature
Medicine. [IF=11.877, Cited=1000, 21423183].
Pfeffer G, Horvath R, Klopstock T, ..., Chinnery PF (2013) New treatments for mitochondrial disease-no time to drop our
standards. Nature Reviews Neurology. [IF=5.428, Cited=99, 23817350].
Gohil VM, Nilsson R, Belcher-Timme CA, ..., Mootha V (2020) Correction: Mitochondrial and nuclear genomic responses to
loss of LRPPRC expression. Journal of Biological Chemistry. [IF=1.122, Cited=0, 32303645].
Gohil VM, Nilsson R, Belcher-Timme CA, ..., Mootha V (2010) Mitochondrial and nuclear genomic responses to loss of
LRPPRC expression. Journal of Biological Chemistry. [IF=1.122, Cited=57, 20220140].
Gohil VM, Zhu L, Baker CD, ..., Mootha V (2013) Meclizine inhibits mitochondrial respiration through direct targeting of
cytosolic phosphoethanolamine metabolism. Journal of Biological Chemistry. [IF=1.122, Cited=37, 24142790].
Vidal-Puig AJ, Grujic D, Zhang CY, ..., Lowell BB (2000) Energy metabolism in uncoupling protein 3 gene knockout mice.
Journal of Biological Chemistry. [IF=1.122, Cited=424, 10748196].
Mootha V (2008) Vamsi Mootha: taking an inventory of mitochondria. Interview by Hema Bashyam. Journal of Experimental
Medicine. [IF=2.235, Cited=1, 18541715].
Saxena R, de Bakker PIW, Singer K, ..., Altshuler D (2006) Comprehensive association testing of common mitochondrial DNA
variation in metabolic disease. American Journal of Human Genetics. [IF=2.607, Cited=133, 16773565].
Ronchi D, Garone C, Bordoni A, ..., Sciacco M (2012) Next-generation sequencing reveals DGUOK mutations in adult
patients with mitochondrial DNA multiple deletions. Brain. [IF=3.147, Cited=60, 23043144].
Fassone E, Duncan AJ, Taanman JW, ..., Rahman S (2010) FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-
specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Human Molecular Genetics.
[IF=1.158, Cited=55, 20858599].
Gohil VM, Offner N, Walker JA, ..., Mootha V (2010) Meclizine is neuroprotective in models of Huntington's disease.
Human Molecular Genetics. [IF=1.158, Cited=26, 20977989].
Lim SC, Friemel M, Marum JE, ..., Compton AG (2013) Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor
ISD11, cause deficiency of multiple respiratory chain complexes. Human Molecular Genetics. [IF=1.158, Cited=65, 23814038].
Strittmatter L, Li Y, Nakatsuka NJ, ..., Mootha V (2013) CLYBL is a polymorphic human enzyme with malate synthase and
β-methylmalate synthase activity. Human Molecular Genetics. [IF=1.158, Cited=21, 24334609].
Fassone E, Duncan AJ, Taanman JW, ..., Rahman S (2015) FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-
specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Human Molecular Genetics.
[IF=1.158, Cited=3, 26022995].
Rhee MK, Mootha V (2004) Bilateral keratoconjunctivitis associated with lichen planus. Cornea. [IF=1.599, Cited=19, 14701968].
Gamm DM, Harris A, Mehran RJ, ..., Mootha V (2006) Mucous membrane pemphigoid with fatal bronchial involvement in a
seventeen-year-old girl. Cornea. [IF=1.599, Cited=6, 16670490].
Bennett A, Mahmoud S, Drury D, ..., Mootha V (2015) Impact of Donor Age on Corneal Endothelium-Descemet Membrane Layer
Scroll Formation. Eye and Contact Lens. [IF=1.171, Cited=16, 25603436].
Di Pascuale MA, Whitson JT, Mootha V (2008) Corneal melting after use of nepafenac in a patient with chronic cystoid
macular edema after cataract surgery. Eye and Contact Lens. [IF=1.171, Cited=13, 18327052].
Pachigolla G, Prasher P, Di Pascuale MA, ..., Mootha V (2009) Evaluation of the role of ProKera in the management of
ocular surface and orbital disorders. Eye and Contact Lens. [IF=1.171, Cited=25, 19474753].
Prasher P, Muftuoglu O, Bowman RW, ..., Mootha V (2009) Tandem scanning confocal microscopy of cornea after descemet
stripping automated endothelial keratoplasty. Eye and Contact Lens. [IF=1.171, Cited=11, 19502987].
Allen MB, Lieu P, Mootha V, ..., Aggarwal NK (2010) Risk factors for intraocular pressure elevation after descemet
stripping automated endothelial keratoplasty. Eye and Contact Lens. [IF=1.171, Cited=18, 20539235].
Wojtowicz JC, Arciniega JC, McCulley JP, Mootha V (2010) Effect of systane and optive on aqueous tear evaporation in
patients with dry eye disease. Eye and Contact Lens. [IF=1.171, Cited=9, 21060260].
Ali ZK, Whitson JT, Mootha V, ..., Cavanagh HD (2011) Glaucoma in patients with corneal endothelial dystrophy. Eye and
Contact Lens. [IF=1.171, Cited=4, 21912260].
Cunnusamy K, Bowman CB, Beebe W, ..., Mootha V (2016) Congenital Corneal Endothelial Dystrophies Resulting From Novel De
Novo Mutations. Cornea. [IF=1.599, Cited=5, 26619383].
Witherspoon SR, Hogan RN, Petroll WM, Mootha V (2007) Slit-lamp, confocal, and light microscopic findings of corneal
siderosis. Cornea. [IF=1.599, Cited=4, 18043190].
Prasher P, Muftuoglu O, Mootha V (2009) Traumatic graft dehiscence after anterior lamellar keratoplasty. Cornea.
[IF=1.599, Cited=7, 19158577].
Prasher P, Muftuoglu O, Hsiao ML, ..., Mootha V (2009) Epithelial downgrowth after descemet stripping automated
endothelial keratoplasty. Cornea. [IF=1.599, Cited=23, 19512895].
Kruger MM, Mootha V (2012) First report of traumatic globe rupture after femtosecond laser-assisted penetrating
keratoplasty. Cornea. [IF=1.599, Cited=3, 22475644].
Kim SY, Muftuoglu O, Hogan RN, ..., Mootha V (2012) Histopathology and spectral domain OCT findings of pneumatic-
assisted dissection in DALK. Cornea. [IF=1.599, Cited=4, 22511029].
Anwar DS, Chu CY, Prasher P, ..., Mootha V (2012) Features of Urrets-Zavalia syndrome after descemet stripping automated
endothelial keratoplasty. Cornea. [IF=1.599, Cited=10, 22960674].
Muftuoglu O, Toro P, Hogan RN, ..., Sarnicola V (2013) Sarnicola air-visco bubble technique in deep anterior lamellar
keratoplasty. Cornea. [IF=1.599, Cited=13, 23187161].
Charest-Marcotte A, Dufour CR, Wilson BJ, ..., Giguère V (2010) The homeobox protein Prox1 is a negative modulator of
ERR{alpha}/PGC-1{alpha} bioenergetic functions. Genes and Development. [IF=1.985, Cited=106, 20194433].
Handschin C, Choi CS, Chin S, ..., Spiegelman BM (2007) Abnormal glucose homeostasis in skeletal muscle-specific
PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk. Journal of Clinical Investigation.
[IF=2.423, Cited=237, 17932564].
Lewis GD, Wei R, Liu E, ..., Gerszten RE (2008) Metabolite profiling of blood from individuals undergoing planned
myocardial infarction reveals early markers of myocardial injury. Journal of Clinical Investigation. [IF=2.423,
Cited=156, 18769631].
Lieber DS, Vafai SB, Horton LC, ..., Mootha V (2012) Atypical case of Wolfram syndrome revealed through targeted exome
sequencing in a patient with suspected mitochondrial disease. BMC Medical Genetics. [IF=1.233, Cited=23, 22226368].
Lieber DS, Hershman SG, Slate NG, ..., Mootha V (2014) Next generation sequencing with copy number variant detection
expands the phenotypic spectrum of HSD17B4-deficiency. BMC Medical Genetics. [IF=1.233, Cited=29, 24602372].
Baughman JM, Nilsson R, Gohil VM, ..., Mootha V (2009) A computational screen for regulators of oxidative
phosphorylation implicates SLIRP in mitochondrial RNA homeostasis. PLoS Genetics. [IF=1.236, Cited=98, 19680543].
Segrè AV, Groop L, Mootha V, ..., Altshuler D (2010) Common inherited variation in mitochondrial genes is not enriched
for associations with type 2 diabetes or related glycemic traits. PLoS Genetics. [IF=1.236, Cited=272, 20714348].
Parikh H, Carlsson E, Chutkow WA, ..., Mootha V (2007) TXNIP regulates peripheral glucose metabolism in humans. PLoS
Medicine. [IF=3.417, Cited=320, 17472435].
Kitami T, Logan DJ, Negri J, ..., Mootha V (2012) A chemical screen probing the relationship between mitochondrial
content and cell size. PLoS ONE. [IF=1.253, Cited=32, 22479437].
Plovanich M, Bogorad RL, Sancak Y, ..., Mootha V (2013) MICU2, a paralog of MICU1, resides within the mitochondrial
uniporter complex to regulate calcium handling. PLoS ONE. [IF=1.253, Cited=285, 23409044].
Petroll WM, Bowman RW, Cavanagh HD, ..., McCulley JP (2008) Assessment of keratocyte activation following LASIK with
flap creation using the IntraLase FS60 laser. Journal of Refractive Surgery. [IF=1.202, Cited=12, 18856242].
Hung V, Lam SS, Udeshi ND, ..., Ting AY (2019) Correction: Proteomic mapping of cytosol-facing outer mitochondrial and
ER membranes in living human cells by proximity biotinylation. eLife. [IF=1.743, Cited=2, 31378216].
Wei MC, Lindsten T, Mootha V, ..., Korsmeyer SJ (2000) tBID, a membrane-targeted death ligand, oligomerizes BAK to
release cytochrome c. Genes and Development. [IF=1.985, Cited=0, 10950869].
Ray HN, Mootha V, Boxwala AA (2003) Building an application framework for integrative genomics. None. [IF=None,
Cited=0, 14728485].
Gupta D, Mootha V (2010) Neuraminidase inhibitors for influenza in healthy adults: what we don't know. National Medical
Journal of India. [IF=0.499, Cited=0, 20839590].