Saturation mutagenesis-reinforced functional assays for disease-related genes
Ma K, Huang S, Ng K, Lake N, Joseph S, Xu J, Lek A, Ge L, Woodman K, Koczwara K, Cohen J, Ho V, O'Connor C, Brindley M, Campbell K, Lek M. Saturation mutagenesis-reinforced functional assays for disease-related genes. Cell 2024, 187: 6707-6724.e22. PMID: 39326416, PMCID: PMC11568926, DOI: 10.1016/j.cell.2024.08.047.Peer-Reviewed Original ResearchDisease-related genesDisease-causing genetic variantsGenome-wide resolutionMutation scanning methodsSingle-nucleotide variantsDeep mutational scanning methodFunctional assaysDisease genesComputational predictorsSaturation mutagenesisHuman geneticsGenetic variantsGenesVariantsSmurfAssayMutagenesisLARGE1GeneticsDisease severityExpanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Jurgens J, Barry B, Chan W, MacKinnon S, Whitman M, Ruiz P, Pratt B, England E, Pais L, Lemire G, Groopman E, Glaze C, Russell K, Singer-Berk M, Di Gioia S, Lee A, Andrews C, Shaaban S, Wirth M, Bekele S, Toffoloni M, Bradford V, Foster E, Berube L, Rivera-Quiles C, Mensching F, Sanchis-Juan A, Fu J, Wong I, Zhao X, Wilson M, Weisburd B, Lek M, Consortium O, Abarca-Barriga H, Al-Haddad C, Berman J, Bothun E, Capasso J, Chacon-Camacho O, Chang L, Christiansen S, Ciccarelli M, Cordonnier M, Cox G, Curry C, Dagi L, Dahm T, David K, Davitt B, De Berardinis T, Demer J, Désir J, D’Esposito F, Drack A, Eggenberger E, Elder J, Elliott A, Epley K, Feldman H, Ferreira C, Flaherty M, Fulton A, Gerth-Kahlert C, Gottlob I, Grill S, Halliday D, Hanisch F, Hay E, Heidary G, Holder C, Horton J, Iannaccone A, Isenberg S, Johnston S, Kahana A, Katowitz J, Kazlas M, Kerr N, Kimonis V, Ko M, Koc F, Larsen D, Lay-Son G, Ledoux D, Levin A, Levy R, Lyons C, Mackey D, Magli A, Mantagos I, Marti C, Maystadt I, McKenzie F, Menezes M, Mikail C, Miller D, Miller K, Mills M, Miyana K, Moller H, Mullineaux L, Nishimura J, Noble A, Pandey P, Pavone P, Penzien J, Petersen R, Phalen J, Poduri A, Polo C, Prasov L, Ramos F, Ramos-Caceres M, Robb R, Rossillion B, Sahin M, Singer H, Smith L, Sorkin J, Soul J, Staffieri S, Stalker H, Stasheff S, Strassberg S, Strominger M, Taranath D, Thomas I, Traboulsi E, Ugrin M, VanderVeen D, Vincent A, G M, Wabbels B, Wong A, Woods C, Wu C, Yang E, Yeung A, Young T, Zenteno J, Zubcov-Iwantscheff A, Zwaan J, Brand H, Talkowski M, MacArthur D, O’Donnell-Luria A, Robson C, Hunter D, Engle E. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genetics In Medicine 2024, 27: 101216. PMID: 39033378, PMCID: PMC11739428, DOI: 10.1016/j.gim.2024.101216.Peer-Reviewed Original ResearchCongenital cranial dysinnervation disordersPrioritized variantsProtein-coding regionsSingle-nucleotide variantsDe novo variantsAnimal model phenotypesGenetically heterogeneous disorderAnalysis of pedigreesGenes associated with syndromesGenome sequenceStructural variantsMendelian conditionsModel phenotypesGenotype/phenotype correlationGenetic etiologyGenotype/phenotype associationsPathogenic variant(sGenesFunctional studiesSyndrome phenotypeSyndrome componentsPhenotypeGeneticsProbandsVariants
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