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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. 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.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Toosi MB, Karimiani EG, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Am J Hum Genet. 2021 Jun 3;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018. Am J Hum Genet. 2021. PMID: 34087166 Free PMC article. No abstract available.
ClinVar data parsing.
Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B. Zhang X, et al. Wellcome Open Res. 2017 May 23;2:33. doi: 10.12688/wellcomeopenres.11640.1. eCollection 2017. Wellcome Open Res. 2017. PMID: 28630944 Free PMC article.
matchbox: An open-source tool for patient matching via the Matchmaker Exchange.
Arachchi H, Wojcik MH, Weisburd B, Jacobsen JOB, Valkanas E, Baxter S, Byrne AB, O'Donnell-Luria AH, Haendel M, Smedley D, MacArthur DG, Philippakis AA, Rehm HL. Arachchi H, et al. Hum Mutat. 2018 Dec;39(12):1827-1834. doi: 10.1002/humu.23655. Epub 2018 Oct 3. Hum Mutat. 2018. PMID: 30240502 Free PMC article.
Reply to 'Selective effects of heterozygous protein-truncating variants'.
Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Cassa CA, et al. Nat Genet. 2019 Jan;51(1):3-4. doi: 10.1038/s41588-018-0301-y. Nat Genet. 2019. PMID: 30478437 Free PMC article. No abstract available.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Whiffin N, et al. Am J Hum Genet. 2019 Jan 3;104(1):187-190. doi: 10.1016/j.ajhg.2018.11.012. Am J Hum Genet. 2019. PMID: 30609406 Free PMC article. No abstract available.
Insights into genetics, human biology and disease gleaned from family based genomic studies.
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics. Posey JE, et al. Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Genet Med. 2019. PMID: 30655598 Free PMC article. Review.
129 results