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Page 1
Contiguous gene deletion of TBX5 and TBX3: report of another case.
Forzano F, Foley PA, Keane MR, Brain CE, Smith GD, Yates RW, Ellershaw D, Calder AD, Scott RH. Forzano F, et al. Among authors: calder ad. Clin Dysmorphol. 2018 Jan;27(1):6-8. doi: 10.1097/MCD.0000000000000199. Clin Dysmorphol. 2018. PMID: 28961683 No abstract available.
The postnatal features of bent bone dysplasia-FGFR2 type.
Scott RH, Meaney C, Jenkins L, Calder A, Hurst JA. Scott RH, et al. Clin Dysmorphol. 2014 Jan;23(1):8-11. doi: 10.1097/MCD.0000000000000022. Clin Dysmorphol. 2014. PMID: 24300289 No abstract available.
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S. Tooley M, et al. Am J Med Genet A. 2016 May;170A(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12. Am J Med Genet A. 2016. PMID: 26971886
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. Among authors: calder ad. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Sousa SB, et al. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241535
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC; Genomics England Research Consortium. Pagnamenta AT, et al. Among authors: calder ad. J Med Genet. 2022 Oct;59(10):947-950. doi: 10.1136/jmedgenet-2021-108027. Epub 2021 Nov 15. J Med Genet. 2022. PMID: 34782440 Free PMC article. No abstract available.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
83 results