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A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Putcha GV, et al. Among authors: lilley m. Genet Med. 2007 Jul;9(7):413-26. Genet Med. 2007. PMID: 17666888 Free article.
Secondary Reporting of G6PD Deficiency on Newborn Screening.
Hoang SC, Blumenschein P, Lilley M, Olshaski L, Bruce A, Wright NAM, Ridsdale R, Christian S. Hoang SC, et al. Among authors: lilley m. Int J Neonatal Screen. 2023 Mar 27;9(2):18. doi: 10.3390/ijns9020018. Int J Neonatal Screen. 2023. PMID: 37092512 Free PMC article.
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Niri F, Nicholls J, Baptista Wyatt K, Walker C, Price T, Kelln R, Hume S, Parboosingh J, Lilley M, Kolski H, Ridsdale R, Muranyi A, Mah JK, Bulman DE. Niri F, et al. Among authors: lilley m. Int J Neonatal Screen. 2023 Jul 27;9(3):42. doi: 10.3390/ijns9030042. Int J Neonatal Screen. 2023. PMID: 37606479 Free PMC article.
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
Lilley M, Christian S, Hume S, Scott P, Montgomery M, Semple L, Zuberbuhler P, Tabak J, Bamforth F, Somerville MJ. Lilley M, et al. Paediatr Child Health. 2010 Nov;15(9):590-4. doi: 10.1093/pch/15.9.590. Paediatr Child Health. 2010. PMID: 22043142 Free PMC article.
Defining the role of laboratory genetic counselor.
Christian S, Lilley M, Hume S, Scott P, Somerville M. Christian S, et al. Among authors: lilley m. J Genet Couns. 2012 Aug;21(4):605-11. doi: 10.1007/s10897-011-9419-0. Epub 2011 Nov 11. J Genet Couns. 2012. PMID: 22075756
108 results