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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Among authors: lampe a. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.
Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Müslümanoğlu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH. Richards A, et al. Among authors: lampe ak. Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12966-71. doi: 10.1073/pnas.2135497100. Epub 2003 Oct 17. Proc Natl Acad Sci U S A. 2003. PMID: 14566051 Free PMC article.
A refined diagnostic algorithm for Bethlem myopathy.
Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. Hicks D, et al. Among authors: lampe ak. Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d. Neurology. 2008. PMID: 18378883 Clinical Trial.
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F. Mercuri E, et al. Among authors: lampe a. Neuromuscul Disord. 2005 Apr;15(4):303-10. doi: 10.1016/j.nmd.2005.01.004. Neuromuscul Disord. 2005. PMID: 15792870
160 results