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Year Number of Results
2002 1
2004 1
2007 2
2010 3
2011 4
2012 4
2013 3
2015 1
2017 1
2018 2
2019 14
2020 13
2021 18
2022 6
2023 12
2024 3

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77 results

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Page 1
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Jackson S, Freeman R, Noronha A, Jamil H, Chavez E, Carmichael J, Ruiz KM, Miller C, Benke S, Perrot R, Hockley M, Murphy K, Casillan A, Radanovich L, Deforest R, Nunes ME, Galarreta-Aima C, Sidlow R, Einhorn Y, Woods J. Jackson S, et al. Among authors: woods j. Am J Med Genet A. 2024 May;194(5):e63505. doi: 10.1002/ajmg.a.63505. Epub 2024 Jan 2. Am J Med Genet A. 2024. PMID: 38168469
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy.
Mendell JR, Shieh PB, McDonald CM, Sahenk Z, Lehman KJ, Lowes LP, Reash NF, Iammarino MA, Alfano LN, Sabo B, Woods JD, Skura CL, Mao HC, Staudt LA, Griffin DA, Lewis S, Wang S, Potter RA, Singh T, Rodino-Klapac LR. Mendell JR, et al. Among authors: woods jd. Front Cell Dev Biol. 2023 Jul 11;11:1167762. doi: 10.3389/fcell.2023.1167762. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37497476 Free PMC article.
77 results