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Memorial: William E. O'Brien, Ph.D.
Elsea SH, Beaudet AL. Elsea SH, et al. Among authors: beaudet al. Mol Genet Metab. 2024 Mar 25;142(1):108435. doi: 10.1016/j.ymgme.2024.108435. Online ahead of print. Mol Genet Metab. 2024. PMID: 38531185 No abstract available.
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.
Higgins K, Moore BA, Berberovic Z, Adissu HA, Eskandarian M, Flenniken AM, Shao A, Imai DM, Clary D, Lanoue L, Newbigging S, Nutter LMJ, Adams DJ, Bosch F, Braun RE, Brown SDM, Dickinson ME, Dobbie M, Flicek P, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Chin HG, Mammano F, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; IMPC Consortium; Lloyd KCK, McKerlie C, Moshiri A. Higgins K, et al. Sci Rep. 2022 Dec 1;12(1):20791. doi: 10.1038/s41598-022-19710-7. Sci Rep. 2022. PMID: 36456625 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Modenato C, et al. Transl Psychiatry. 2021 Jul 20;11(1):399. doi: 10.1038/s41398-021-01490-9. Transl Psychiatry. 2021. PMID: 34285187 Free PMC article.
A resource of targeted mutant mouse lines for 5,061 genes.
Birling MC, Yoshiki A, Adams DJ, Ayabe S, Beaudet AL, Bottomley J, Bradley A, Brown SDM, Bürger A, Bushell W, Chiani F, Chin HG, Christou S, Codner GF, DeMayo FJ, Dickinson ME, Doe B, Donahue LR, Fray MD, Gambadoro A, Gao X, Gertsenstein M, Gomez-Segura A, Goodwin LO, Heaney JD, Hérault Y, de Angelis MH, Jiang ST, Justice MJ, Kasparek P, King RE, Kühn R, Lee H, Lee YJ, Liu Z, Lloyd KCK, Lorenzo I, Mallon AM, McKerlie C, Meehan TF, Fuentes VM, Newman S, Nutter LMJ, Oh GT, Pavlovic G, Ramirez-Solis R, Rosen B, Ryder EJ, Santos LA, Schick J, Seavitt JR, Sedlacek R, Seisenberger C, Seong JK, Skarnes WC, Sorg T, Steel KP, Tamura M, Tocchini-Valentini GP, Wang CL, Wardle-Jones H, Wattenhofer-Donzé M, Wells S, Wiles MV, Willis BJ, Wood JA, Wurst W, Xu Y; International Mouse Phenotyping Consortium (IMPC); Teboul L, Murray SA. Birling MC, et al. Among authors: beaudet al. Nat Genet. 2021 Apr;53(4):416-419. doi: 10.1038/s41588-021-00825-y. Nat Genet. 2021. PMID: 33833456 Free PMC article.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. Yuan B, et al. Among authors: beaudet al. Genet Med. 2020 Oct;22(10):1633-1641. doi: 10.1038/s41436-020-0864-8. Epub 2020 Jun 24. Genet Med. 2020. PMID: 32576985 Free PMC article.
The Deep Genome Project.
Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Herault Y, de Angelis MH, Lupski JR, Lyonnet S, Mallon AM, Mammano F, MacRae CA, McInnes R, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Wurst W, Xu Y, Brown SDM. Lloyd KCK, et al. Among authors: beaudet al. Genome Biol. 2020 Feb 3;21(1):18. doi: 10.1186/s13059-020-1931-9. Genome Biol. 2020. PMID: 32008577 Free PMC article. No abstract available.
434 results