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Reply: To PMID 23512800.
Kilby M, Hillman S, Maher E, McMullan D. Kilby M, et al. Among authors: mcmullan d. Ultrasound Obstet Gynecol. 2014 Mar;43(3):358-9. doi: 10.1002/uog.13264. Ultrasound Obstet Gynecol. 2014. PMID: 24591235 Free article. No abstract available.
The clinical utility of genetic testing of tissues from pregnancy losses.
Waterman CA, Batstone P, Bown N, Cresswell L, Delmege C, English CJ, Fews G, Grimsley L, Imrie S, Kulkarni A, Mann K, Johnson R, Morgan SM, Roberts P, Simonic I, Trueman S, Wall M, McMullan D. Waterman CA, et al. Among authors: mcmullan d. BJOG. 2018 Jun;125(7):867-873. doi: 10.1111/1471-0528.14229. Epub 2016 Sep 5. BJOG. 2018. PMID: 27594580
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER. Innes J, et al. Among authors: mcmullan d. J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16. J Med Genet. 2018. PMID: 28918392
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.
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.
325 results