Cited by

• Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

  Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Wright CF, et al. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529582 Free PMC article.
• Problems with the nested granularity of feature domains in bioinformatics: the eXtasy case.

  Popovic D, Sifrim A, Davis J, Moreau Y, De Moor B. Popovic D, et al. BMC Bioinformatics. 2015;16 Suppl 4(Suppl 4):S2. doi: 10.1186/1471-2105-16-S4-S2. Epub 2015 Feb 23. BMC Bioinformatics. 2015. PMID: 25734591 Free PMC article.
• A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy.

  Biagi DG, Mill JG, Mansur AJ, Krieger JE, Pereira AC. Biagi DG, et al. J Negat Results Biomed. 2012 Jan 11;11:4. doi: 10.1186/1477-5751-11-4. J Negat Results Biomed. 2012. PMID: 22236651 Free PMC article.
• Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.

  Forman OP, De Risio L, Mellersh CS. Forman OP, et al. PLoS One. 2013 May 31;8(5):e64627. doi: 10.1371/journal.pone.0064627. Print 2013. PLoS One. 2013. PMID: 23741357 Free PMC article.
• Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.

  Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F. Athanasakis E, et al. Mol Syndromol. 2012 Jun;3(1):21-24. doi: 10.1159/000337928. Epub 2012 Apr 11. Mol Syndromol. 2012. PMID: 22855651 Free PMC article.