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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
2016 Consensus statement on return to sport from the First World Congress in Sports Physical Therapy, Bern.
Ardern CL, Glasgow P, Schneiders A, Witvrouw E, Clarsen B, Cools A, Gojanovic B, Griffin S, Khan KM, Moksnes H, Mutch SA, Phillips N, Reurink G, Sadler R, Silbernagel KG, Thorborg K, Wangensteen A, Wilk KE, Bizzini M. Ardern CL, et al. Among authors: mutch sa. Br J Sports Med. 2016 Jul;50(14):853-64. doi: 10.1136/bjsports-2016-096278. Epub 2016 May 25. Br J Sports Med. 2016. PMID: 27226389
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Phytest: quality control for phylogenetic analyses.
Wirth W, Mutch S, Turnbull R, Duchene S. Wirth W, et al. Among authors: mutch s. Bioinformatics. 2022 Nov 15;38(22):5124-5125. doi: 10.1093/bioinformatics/btac664. Bioinformatics. 2022. PMID: 36205601 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Infographic: 2016 Consensus statement on return to sport from the First World Congress in Sports Physical Therapy, Bern.
Ardern CL, Glasgow P, Schneiders AG, Witvrouw E, Clarsen B, Cools AM, Gojanovic B, Griffin S, Khan K, Moksnes H, Mutch S, Phillips N, Reurink G, Sadler R, Gravare Silbernagel K, Thorborg K, Wangensteen A, Wilk K, Bizzini M. Ardern CL, et al. Among authors: mutch s. Br J Sports Med. 2017 Jul;51(13):995. doi: 10.1136/bjsports-2016-097468. Epub 2017 Feb 17. Br J Sports Med. 2017. PMID: 28213400 No abstract available.
Increased genital mucosal cytokines in Canadian women associate with higher antigen-presenting cells, inflammatory metabolites, epithelial barrier disruption, and the depletion of L. crispatus.
Farr Zuend C, Lamont A, Noel-Romas L, Knodel S, Birse K, Kratzer K, McQueen P, Perner M, Ayele H, Mutch S, Berard AR, Schellenberg JJ, Senturk F, McCorrister S, Westmacott G, Mulhall F, Sandberg B, Yu A, Burnett M, Poliquin V, Burgener AD. Farr Zuend C, et al. Among authors: mutch s. Microbiome. 2023 Jul 25;11(1):159. doi: 10.1186/s40168-023-01594-y. Microbiome. 2023. PMID: 37491398 Free PMC article.
35 results