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Paediatric genomics: diagnosing rare disease in children.
Wright CF, FitzPatrick DR, Firth HV. Wright CF, et al. Among authors: firth hv. Nat Rev Genet. 2018 May;19(5):253-268. doi: 10.1038/nrg.2017.116. Epub 2018 Feb 5. Nat Rev Genet. 2018. PMID: 29398702 Review.
Molecular analysis of eight mutations in FBN1.
Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. Halliday D, et al. Hum Genet. 1999 Dec;105(6):587-97. doi: 10.1007/s004399900190. Hum Genet. 1999. PMID: 10647894
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: firth hv. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Mackay DJ, et al. Among authors: firth hv. Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11. Nat Genet. 2008. PMID: 18622393
The Deciphering Developmental Disorders (DDD) study.
Firth HV, Wright CF; DDD Study. Firth HV, et al. Dev Med Child Neurol. 2011 Aug;53(8):702-3. doi: 10.1111/j.1469-8749.2011.04032.x. Epub 2011 Jun 17. Dev Med Child Neurol. 2011. PMID: 21679367 No abstract available.
Interpretation of genomic copy number variants using DECIPHER.
Corpas M, Bragin E, Clayton S, Bevan P, Firth HV. Corpas M, et al. Among authors: firth hv. Curr Protoc Hum Genet. 2012 Jan;Chapter 8:Unit 8.14. doi: 10.1002/0471142905.hg0814s72. Curr Protoc Hum Genet. 2012. PMID: 22241657
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