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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: dunn c. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
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.
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.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: dunn c. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
Dynamics of clustering rates in the rhode Island HIV-1 epidemic.
Novitsky V, Steingrimsson J, Guang A, Dunn CW, Howison M, Gillani FS, Hague J, Fulton J, Bertrand T, Bhattarai L, MacAskill M, Bandy U, Hogan J, Kantor R. Novitsky V, et al. Among authors: dunn cw. AIDS. 2024 Nov 11. doi: 10.1097/QAD.0000000000004062. Online ahead of print. AIDS. 2024. PMID: 39527774
Initial Assessment of Resectability of Colorectal Cancer Liver Metastases Versus Clinical Outcome.
Kim GY, Jalali A, Gard G, Yeung JM, Chau H, Gately L, Houli N, Jones IT, Kosmider S, Lee B, Lee M, Nott L, Shapiro JD, Tie J, Thomson B, To YH, Wong V, Wong R, Dunn C, Johns J, Gibbs P. Kim GY, et al. Among authors: dunn c. Clin Colorectal Cancer. 2024 Oct 15:S1533-0028(24)00087-2. doi: 10.1016/j.clcc.2024.10.001. Online ahead of print. Clin Colorectal Cancer. 2024. PMID: 39523153
Pf bacteriophage is associated with decline in lung function in a longitudinal cohort of patients with cystic fibrosis and Pseudomonas airway infection.
Burgener EB, Gupta A, Nakano K, Gibbs SL, Sommers ME, Khosravi A, Bach MS, Dunn C, Spano J, Secor PR, Tian L, Bollyky PL, Milla CE. Burgener EB, et al. Among authors: dunn c. J Cyst Fibros. 2024 Oct 25:S1569-1993(24)01786-7. doi: 10.1016/j.jcf.2024.09.018. Online ahead of print. J Cyst Fibros. 2024. PMID: 39490215 Free article.
1,324 results