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Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Rose NC, et al. Among authors: leung ml. Genet Med. 2022 Jul;24(7):1379-1391. doi: 10.1016/j.gim.2022.03.019. Epub 2022 May 24. Genet Med. 2022. PMID: 35608568 Free article.
A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Leung ML, Caylor RC, D'Annibale O, McClure M, Narumanchi T, Sack LM, South ST; ACMG Advocacy and Government Affairs Committee. Electronic address: documents@acmg.net. Leung ML, et al. Genet Med. 2025 Jun;27(6):101391. doi: 10.1016/j.gim.2025.101391. Epub 2025 May 2. Genet Med. 2025. PMID: 40314626 No abstract available.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran-Mau-Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: leung ml. Brain. 2025 Apr 3;148(4):1155-1168. doi: 10.1093/brain/awae320. Brain. 2025. PMID: 39405200 Free PMC article.
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Deignan JL, Aggarwal V, Bale AE, Bellissimo DB, Booker JK, Cao Y, Crooks KR, Deak KL, Del Gaudio D, Funke B, Hoppman NL, Horner V, Hufnagel RB, Jackson-Cook C, Koduru P, Leung ML, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail FM, Moore SR, Naeem RC, Pollard LM, Repnikova EA, Shao L, Shaw BM, Shetty S, Smolarek TA, Spiteri E, Van Ziffle J, Vance GH, Vnencak-Jones CL, Williams ES. Deignan JL, et al. Among authors: leung ml. Genet Med Open. 2024;2:101820. doi: 10.1016/j.gimo.2024.101820. Epub 2024 Feb 1. Genet Med Open. 2024. PMID: 39175871 Free PMC article.
48 results