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Page 1
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
CYP2A6 Longitudinal Effects in Young Smokers.
Cannon DS, Medina TR, Mermelstein RJ, Hedeker D, Bakian AV, Coon H, Cook EH, Hamil C, Weiss RB. Cannon DS, et al. Among authors: hamil c. Nicotine Tob Res. 2016 Feb;18(2):196-203. doi: 10.1093/ntr/ntv049. Epub 2015 Mar 5. Nicotine Tob Res. 2016. PMID: 25744963 Free PMC article.
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Lampe AK, et al. Among authors: hamil c. J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754. J Med Genet. 2005. PMID: 15689448 Free PMC article.
Genome degeneration and adaptation in a nascent stage of symbiosis.
Oakeson KF, Gil R, Clayton AL, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Duval B, Baca A, Silva FJ, Vallier A, Jackson DG, Latorre A, Weiss RB, Heddi A, Moya A, Dale C. Oakeson KF, et al. Among authors: hamil c. Genome Biol Evol. 2014 Jan;6(1):76-93. doi: 10.1093/gbe/evt210. Genome Biol Evol. 2014. PMID: 24407854 Free PMC article.
Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Mendell JR, et al. Among authors: hamil c. Ann Neurol. 2012 Mar;71(3):304-13. doi: 10.1002/ana.23528. Ann Neurol. 2012. PMID: 22451200
Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.
Affolter KE, Hellwig S, Nix DA, Bronner MP, Thomas A, Fuertes CL, Hamil CL, Garrido-Laguna I, Scaife CL, Mulvihill SJ, Underhill HR. Affolter KE, et al. Among authors: hamil cl. Neoplasia. 2021 Sep;23(9):859-869. doi: 10.1016/j.neo.2021.06.005. Epub 2021 Jul 21. Neoplasia. 2021. PMID: 34298235 Free PMC article.