My Bibliography

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Huskey ALW, Merner ND. An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk. BMC Res Notes. 2022 Feb 3;15(1):26. doi: 10.1186/s13104-022-05907-6. PubMed PMID: 35115044; PubMed Central PMCID: PMC8815132.

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McGuire Sams C, Shepp K, Pugh J, Bishop MR, Merner ND. Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases. BMC Med Genomics. 2021 Dec 1;14(1):284. doi: 10.1186/s12920-021-01126-3. PubMed PMID: 34852802; PubMed Central PMCID: PMC8638184.

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Adekanmbi F, McNeely I, Omeler S, Kalalah A, Poudel A, Merner N, Wang C. Absence of bovine leukemia virus in the buffy coats of breast cancer cases from Alabama, USA. Microb Pathog. 2021 Dec;161(Pt A):105238. doi: 10.1016/j.micpath.2021.105238. Epub 2021 Oct 12. PubMed PMID: 34653545.

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Huskey ALW, McNeely I, Merner ND. CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk - A Comparative Oncology Approach to Discovery. Front Genet. 2021;12:702889. doi: 10.3389/fgene.2021.702889. eCollection 2021. PubMed PMID: 34447411; PubMed Central PMCID: PMC8383343.

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Bishop MR, Omeler-Fenaud SM, Huskey ALW, Merner ND. Gene panel screening for insight towards breast cancer susceptibility in different ethnicities. PLoS One. 2020;15(8):e0238295. doi: 10.1371/journal.pone.0238295. eCollection 2020. PubMed PMID: 32866190; PubMed Central PMCID: PMC7458311.

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Huskey AW, Goebel K, Lloveras-Fuentes C, McNeely I, Merner ND. Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs. Canine Medicine and Genetics. 2020 June; 7(1):1-13. doi: https://doi.org/10.1186/s40575-020-00084-w.

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Bishop MR, Huskey ALW, Hetzel J, Merner ND. A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk. PLoS One. 2019;14(8):e0220929. doi: 10.1371/journal.pone.0220929. eCollection 2019. PubMed PMID: 31415627; PubMed Central PMCID: PMC6695138.

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Bishop MR, Shah A, Shively M, Huskey ALW, Omeler SM, Bilgili EP, Jackson E, Daniell K, Stallworth E, Spina S, Shepp K, Bergstresser S, Davis A, Dean H, Gibson J, Johnson B, Merner ND. Establishment of the Alabama Hereditary Cancer Cohort - strategies for the inclusion of underrepresented populations in cancer genetics research. Mol Genet Genomic Med. 2018 Sep;6(5):766-778. doi: 10.1002/mgg3.443. Epub 2018 Jul 1. PubMed PMID: 29962060; PubMed Central PMCID: PMC6160710.

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Chandler MR, Keene KS, Tuomela JM, Forero-Torres A, Desmond R, Vuopala KS, Harris KW, Merner ND, Selander KS. Lower frequency of TLR9 variant associated with protection from breast cancer among African Americans. PLoS One. 2017;12(9):e0183832. doi: 10.1371/journal.pone.0183832. eCollection 2017. PubMed PMID: 28886076; PubMed Central PMCID: PMC5590816.

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Goebel K, Merner ND. A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans. Vet Med Sci. 2017 May;3(2):51-62. doi: 10.1002/vms3.61. eCollection 2017 May. Review. PubMed PMID: 28713573; PubMed Central PMCID: PMC5488221.

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Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA. Genome-wide association study in essential tremor identifies three new loci. Brain. 2016 Dec;139(Pt 12):3163-3169. doi: 10.1093/brain/aww242. Epub 2016 Oct 20. PubMed PMID: 27797806; PubMed Central PMCID: PMC5382938.

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Chandler MR, Bilgili EP, Merner ND. A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery. Hum Mutat. 2016 Sep;37(9):835-46. doi: 10.1002/humu.23017. Epub 2016 Jun 27. Review. PubMed PMID: 27226120.

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Merner ND, Mercado A, Khanna AR, Hodgkinson A, Bruat V, Awadalla P, Gamba G, Rouleau GA, Kahle KT. Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia. J Psychiatr Res. 2016 Jun;77:22-6. doi: 10.1016/j.jpsychires.2016.02.016. Epub 2016 Feb 27. PubMed PMID: 26955005.

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Merner N, Forgeot d'Arc B, Bell SC, Maussion G, Peng H, Gauthier J, Crapper L, Hamdan FF, Michaud JL, Mottron L, Rouleau GA, Ernst C. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. Am J Med Genet A. 2016 May;170A(5):1225-35. doi: 10.1002/ajmg.a.37566. Epub 2016 Jan 20. PubMed PMID: 26789910.

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Merner ND, Chandler MR, Bourassa C, Liang B, Khanna AR, Dion P, Rouleau GA, Kahle KT. Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. Front Cell Neurosci. 2015;9:386. doi: 10.3389/fncel.2015.00386. eCollection 2015. PubMed PMID: 26528127; PubMed Central PMCID: PMC4600830.

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Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13. PubMed PMID: 24928908; PubMed Central PMCID: PMC4196980.

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Haywood AF, Merner ND, Hodgkinson KA, Houston J, Syrris P, Booth V, Connors S, Pantazis A, Quarta G, Elliott P, McKenna W, Young TL. Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada. Eur Heart J. 2013 Apr;34(13):1002-11. doi: 10.1093/eurheartj/ehs383. Epub 2012 Nov 15. PubMed PMID: 23161701.

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Parmalee N, Mirzozoda K, Kisselev S, Merner N, Dion P, Rouleau G, Clark L, Louis ED. Genetic analysis of the FUS/TLS gene in essential tremor. Eur J Neurol. 2013 Mar;20(3):534-539. doi: 10.1111/ene.12023. Epub 2012 Nov 1. PubMed PMID: 23114103; PubMed Central PMCID: PMC4862621.

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Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL. A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. Hum Mutat. 2013 Jan;34(1):66-9. doi: 10.1002/humu.22205. Epub 2012 Oct 11. PubMed PMID: 22911656.

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Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet. 2012 Sep 7;91(3):548-52. doi: 10.1016/j.ajhg.2012.07.018. PubMed PMID: 22958904; PubMed Central PMCID: PMC3511983.

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Hodgkinson KA, Connors SP, Merner N, Haywood A, Young TL, McKenna WJ, Gallagher B, Curtis F, Bassett AS, Parfrey PS. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. Clin Genet. 2013 Apr;83(4):321-31. doi: 10.1111/j.1399-0004.2012.01919.x. Epub 2012 Aug 13. PubMed PMID: 22725725.

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Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2. PubMed PMID: 22863194; PubMed Central PMCID: PMC3415547.

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Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. PubMed PMID: 21820098; PubMed Central PMCID: PMC3155159.

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Merner ND, Dion PA, Rouleau GA. Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. Clin Genet. 2011 Jan;79(1):23-34. doi: 10.1111/j.1399-0004.2010.01591.x. PubMed PMID: 21143467.

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Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young TL. Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure. 2009 Sep;18(7):492-7. doi: 10.1016/j.seizure.2009.04.009. Epub 2009 May 21. PubMed PMID: 19464195.

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Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. PubMed PMID: 19107147; PubMed Central PMCID: PMC2986256.

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Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008 Apr;82(4):809-21. doi: 10.1016/j.ajhg.2008.01.010. Epub 2008 Feb 28. PubMed PMID: 18313022; PubMed Central PMCID: PMC2427209.