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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
Ragoussis V, Pagnamenta AT, Haines RL, Giacopuzzi E, McClatchey MA, Sampson JR, Suri M, Gardham A, Cobben JM, Osio D, Fry AE; Genomics England Research Consortium; Taylor JC. Ragoussis V, et al. Among authors: haines rl. J Med Genet. 2022 Apr;59(4):366-369. doi: 10.1136/jmedgenet-2020-107528. Epub 2021 Feb 5. J Med Genet. 2022. PMID: 33547136 Free PMC article. No abstract available.
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.
Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.
Abbasciano RG, Mariscalco G, Barwell J, Owens G, Zakkar M, Joel-David L, Pathak S, Adebayo A, Shannon N, Haines RL, Aujla H, Eagle-Hemming B, Kumar T, Lai F, Wozniak M, Murphy G. Abbasciano RG, et al. Among authors: haines rl. J Am Heart Assoc. 2022 Apr 19;11(8):e023741. doi: 10.1161/JAHA.121.023741. Epub 2022 Apr 6. J Am Heart Assoc. 2022. PMID: 35383466 Free PMC article.
Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.
Chen H, Common JE, Haines RL, Balakrishnan A, Brown SJ, Goh CS, Cordell HJ, Sandilands A, Campbell LE, Kroboth K, Irvine AD, Goh DL, Tang MB, van Bever HP, Giam YC, McLean WH, Lane EB. Chen H, et al. Among authors: haines rl. Br J Dermatol. 2011 Jul;165(1):106-14. doi: 10.1111/j.1365-2133.2011.10331.x. Br J Dermatol. 2011. PMID: 21428977
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