Expanding 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
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply