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A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Claire Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. Claire Hou YC, et al. Among authors: neidich ja. Genet Med. 2023 Mar;25(3):100348. doi: 10.1016/j.gim.2022.11.016. Epub 2022 Dec 7. Genet Med. 2023. PMID: 36571464 Free article.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Uguen K, et al. Clin Genet. 2021 Oct;100(4):386-395. doi: 10.1111/cge.14015. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34164801
Clinical whole-genome sequencing in cancer diagnosis.
Hou YC, Neidich JA, Duncavage EJ, Spencer DH, Schroeder MC. Hou YC, et al. Among authors: neidich ja. Hum Mutat. 2022 Nov;43(11):1519-1530. doi: 10.1002/humu.24381. Epub 2022 Apr 26. Hum Mutat. 2022. PMID: 35471774 Review.
Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.
Duncavage EJ, Schroeder MC, O'Laughlin M, Wilson R, MacMillan S, Bohannon A, Kruchowski S, Garza J, Du F, Hughes AEO, Robinson J, Hughes E, Heath SE, Baty JD, Neidich J, Christopher MJ, Jacoby MA, Uy GL, Fulton RS, Miller CA, Payton JE, Link DC, Walter MJ, Westervelt P, DiPersio JF, Ley TJ, Spencer DH. Duncavage EJ, et al. N Engl J Med. 2021 Mar 11;384(10):924-935. doi: 10.1056/NEJMoa2024534. N Engl J Med. 2021. PMID: 33704937 Free PMC article.
From karyotypes to precision genomics in 9p deletion and duplication syndromes.
Sams EI, Ng JK, Tate V, Claire Hou YC, Cao Y, Antonacci-Fulton L, Belhassan K, Neidich J, Mitra RD, Cole FS, Dickson P, Milbrandt J, Turner TN. Sams EI, et al. HGG Adv. 2021 Dec 24;3(1):100081. doi: 10.1016/j.xhgg.2021.100081. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047865 Free PMC article.
45 results