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Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.
Massey S, Guo Y, Riley LG, Van Bergen NJ, Sandaradura SA, McCusker E, Tchan M, Thauvin-Robinet C, Thomas Q, Moreau T, Davis M, Smits D, Mancini GMS, Hakonarson H, Cooper S, Christodoulou J. Massey S, et al. Among authors: davis m. Neurol Genet. 2023 Jan 23;9(1):e200051. doi: 10.1212/NXG.0000000000200051. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36698452 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: davis mr. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Refining the phenotype of common mutations in Rett syndrome.
Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Colvin L, et al. Among authors: davis m. J Med Genet. 2004 Jan;41(1):25-30. doi: 10.1136/jmg.2003.011130. J Med Genet. 2004. PMID: 14729826 Free PMC article. No abstract available.
Early progressive encephalopathy in boys and MECP2 mutations.
Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Kankirawatana P, et al. Among authors: davis m. Neurology. 2006 Jul 11;67(1):164-6. doi: 10.1212/01.wnl.0000223318.28938.45. Neurology. 2006. PMID: 16832102
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.
Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A. Gill H, et al. Among authors: davis m. J Med Genet. 2003 May;40(5):380-4. doi: 10.1136/jmg.40.5.380. J Med Genet. 2003. PMID: 12746405 Free PMC article. No abstract available.
9,595 results