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Page 1
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: allen j. 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.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, Baxter S, Brand H, Bryant S, Buser N, de Menil V, Eastman E, Murugasen S, Galvin A, Kombe M, Ngombo A, Mkubwa B, Mwangi P, Kipkoech C, Lovgren A, MacArthur DG, Melly B, Mwangasha K, Martin A, Nkambule LL, Sanchis-Juan A, Singer-Berk M, Talkowski ME, VanNoy G, van der Merwe C; NeuroDev Project; Newton C, O'Donnell-Luria A, Abubakar A, Donald KA, Robinson EB. Kipkemoi P, et al. Among authors: allen j. Neuron. 2023 Sep 20;111(18):2800-2810.e5. doi: 10.1016/j.neuron.2023.06.010. Epub 2023 Jul 17. Neuron. 2023. PMID: 37463579 Free article.
Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study.
Kraft SA, Porter KM, Duenas DM, Guerra C, Joseph G, Lee SS, Shipman KJ, Allen J, Eubanks D, Kauffman TL, Lindberg NM, Anderson K, Zepp JM, Gilmore MJ, Mittendorf KF, Shuster E, Muessig KR, Arnold B, Goddard KAB, Wilfond BS. Kraft SA, et al. Among authors: allen j. AJOB Empir Bioeth. 2021 Jan-Mar;12(1):1-11. doi: 10.1080/23294515.2020.1823907. Epub 2020 Sep 26. AJOB Empir Bioeth. 2021. PMID: 32981477 Free PMC article.
Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study.
Guo B, Knerr S, Kauffman TL, Mittendorf KF, Keast E, Gilmore MJ, Feigelson HS, Lynch FL, Muessig KR, Okuyama S, Zepp JM, Veenstra DL, Hsu L, Phipps AI, Lindström S, Leo MC, Goddard KAB, Wilfond BS, Devine B; CHARM Study team. Guo B, et al. Cancer Med. 2023 Sep;12(18):19112-19125. doi: 10.1002/cam4.6485. Epub 2023 Aug 30. Cancer Med. 2023. PMID: 37644850 Free PMC article.
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population.
Mittendorf KF, Ukaegbu C, Gilmore MJ, Lindberg NM, Kauffman TL, Eubanks DJ, Shuster E, Allen J, McMullen C, Feigelson HS, Anderson KP, Leo MC, Hunter JE, Sasaki SO, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. Mittendorf KF, et al. Among authors: allen j. Fam Cancer. 2022 Apr;21(2):167-180. doi: 10.1007/s10689-021-00243-3. Epub 2021 Mar 23. Fam Cancer. 2022. PMID: 33754278 Free PMC article.
Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access.
Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP; CHARM Study. Amendola LM, et al. Genet Med. 2022 Jun;24(6):1196-1205. doi: 10.1016/j.gim.2022.02.006. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305866 Free article.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network; Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A. Royer-Bertrand B, et al. Among authors: allen j. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 Free PMC article.