2023
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Peña L, Burrage L, Enns G, Esplin E, Harding C, Mendell J, Niu Z, Scharfe C, Yu T, Koeberl D, Committee A. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2023, 25: 100831. PMID: 37031408, PMCID: PMC11040261, DOI: 10.1016/j.gim.2023.100831.Peer-Reviewed Original Research
2014
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
Falk M, Shen L, Gonzalez M, Leipzig J, Lott M, Stassen A, Diroma M, Navarro-Gomez D, Yeske P, Bai R, Boles R, Brilhante V, Ralph D, DaRe J, Shelton R, Terry S, Zhang Z, Copeland W, van Oven M, Prokisch H, Wallace D, Attimonelli M, Krotoski D, Zuchner S, Gai X, participants: M, Bale S, Bedoyan J, Behar D, Bonnen P, Brooks L, Calabrese C, Calvo S, Chinnery P, Christodoulou J, Church D, Clima R, Cohen B, Cotton R, de Coo I, Derbenevoa O, Dunnen J, Dimmock D, Enns G, Gasparre G, Goldstein A, Gonzalez I, Gwinn K, Hahn S, Haas R, Hakonarson H, Hirano M, Kerr D, Li D, Lvova M, Macrae F, Maglott D, McCormick E, Mitchell G, Mootha V, Okazaki Y, Pujol A, Parisi M, Perin J, Pierce E, Procaccio V, Rahman S, Reddi H, Rehm H, Riggs E, Rodenburg R, Rubinstein Y, Saneto R, Santorsola M, Scharfe C, Sheldon C, Shoubridge E, Simone D, Smeets B, Smeitink J, Stanley C, Suomalainen A, Tarnopolsky M, Thiffault I, Thorburn D, Van Hove J, Wolfe L, Wong L. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics And Metabolism 2014, 114: 388-396. PMID: 25542617, PMCID: PMC4512182, DOI: 10.1016/j.ymgme.2014.11.016.Peer-Reviewed Original ResearchConceptsWeb portalData resourcesLocus-specific databasesAnnotation tracksData analysis needsResearch communityAnalysis toolsUnique identifier systemsCentral web portalMitochondrial diseaseCustom annotation tracksUser-friendly fashionData analysis toolsGenomic data analysisUser interrogationData of relevanceDataset curationData sharingData visualizationIdentifier systemVariant pathogenicity assessmentCentralized knowledgeAnalysis needsOntology toolsMSeqDR
2002
Systematic screen for human disease genes in yeast
Steinmetz LM, Scharfe C, Deutschbauer AM, Mokranjac D, Herman ZS, Jones T, Chu AM, Giaever G, Prokisch H, Oefner PJ, Davis RW. Systematic screen for human disease genes in yeast. Nature Genetics 2002, 31: 400-404. PMID: 12134146, DOI: 10.1038/ng929.Peer-Reviewed Original ResearchConceptsMitochondrial proteinsNuclear-encoded mitochondrial proteinsGenomic map positionFunctional genomic studiesHuman disease genesGene expression analysisHuman mitochondriaYeast deletionHuman orthologGenomic studiesMap positionHuman genesSystematic screenFunctional screenStrain fitnessExpression analysisDisease genesHuman disordersMitochondrial diseaseHigh similarityMitochondrial respirationHeritable diseaseMitochondrial functionGenesProtein