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Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Bowling KM, Thompson ML, Gray DE, Lawlor JMJ, Williams K, East KM, Kelley WV, Moss IP, Absher DM, Partridge EC, Hurst ACE, Edberg JC, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: korf br. Genet Med. 2021 Feb;23(2):280-288. doi: 10.1038/s41436-020-00976-z. Epub 2020 Sep 29. Genet Med. 2021. PMID: 32989269 Free article.
A state-based approach to genomics for rare disease and population screening.
East KM, Kelley WV, Cannon A, Cochran ME, Moss IP, May T, Nakano-Okuno M, Sodeke SO, Edberg JC, Cimino JJ, Fouad M, Curry WA, Hurst ACE, Bowling KM, Thompson ML, Bebin EM, Johnson RD; AGHI Consortium; Cooper GM, Might M, Barsh GS, Korf BR. East KM, et al. Among authors: korf br. Genet Med. 2021 Apr;23(4):777-781. doi: 10.1038/s41436-020-01034-4. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244164 Free PMC article.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: korf br. Genet Med. 2022 Apr;24(4):851-861. doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. Genet Med. 2022. PMID: 34930662 Free PMC article.
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.
Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, Rosser T, Walsh KS, Gioia GA, Wolters PL, Tonsgard J, Schorry E, Viskochil D, Klesse L, Fisher M, Gutmann DH, Silva AJ, Hunter SJ, Rey-Casserly C, Cantor NL, Byars AW, Stavinoha PL, Ackerson JD, Armstrong CL, Isenberg J, O'Neil SH, Packer RJ, Korf B, Acosta MT, North KN; NF Clinical Trials Consortium. Payne JM, et al. Neurology. 2016 Dec 13;87(24):2575-2584. doi: 10.1212/WNL.0000000000003435. Epub 2016 Nov 9. Neurology. 2016. PMID: 27956565 Free PMC article. Clinical Trial.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: korf br. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
287 results