Nancy D. Merner, Ph.D. - Publications

2011 Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada 
Genetics, Epidemiology

27 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Huskey ALW, Merner ND. An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk. Bmc Research Notes. 15: 26. PMID 35115044 DOI: 10.1186/s13104-022-05907-6  0.349
2021 Huskey ALW, McNeely I, Merner ND. Gene Family Mutations Associated With Inherited Breast Cancer Risk - A Comparative Oncology Approach to Discovery. Frontiers in Genetics. 12: 702889. PMID 34447411 DOI: 10.3389/fgene.2021.702889  0.318
2020 Bishop MR, Omeler-Fenaud SM, Huskey ALW, Merner ND. Gene panel screening for insight towards breast cancer susceptibility in different ethnicities. Plos One. 15: e0238295. PMID 32866190 DOI: 10.1371/Journal.Pone.0238295  0.398
2020 Omeler-Fenaud S, Bishop M, Stallworth E, McNeely I, Merner N. Abstract C041: Complexities of hereditary breast cancer: Investigating a large African American family Cancer Epidemiology, Biomarkers & Prevention. DOI: 10.1158/1538-7755.Disp19-C041  0.335
2019 Bishop MR, Huskey ALW, Hetzel J, Merner ND. A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk. Plos One. 14: e0220929. PMID 31415627 DOI: 10.1371/Journal.Pone.0220929  0.403
2018 Lloveras-Fuentes C, Goebel K, Merner ND. Abstract A62: Canine pedigree analysis as a model of hereditary breast cancer Molecular Cancer Research. 16. DOI: 10.1158/1557-3125.Advbc17-A62  0.419
2018 Chandler MR, Bergstresser S, Huskey AL, Stallworth E, Davis A, Dean H, Johnson B, Merner ND. Abstract A29: Investigation of RECQL variants in European and African American breast cancer cohorts Molecular Cancer Research. 16. DOI: 10.1158/1557-3125.Advbc17-A29  0.476
2017 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. Veterinary Medicine and Science. 3: 51-62. PMID 28713573 DOI: 10.1002/vms3.61  0.304
2017 Chandler MR, Shepp KJ, Spina SM, Merner ND. Abstract B35: A breast cancer susceptibility gene screening panel for variant discovery and gene exclusion in an African American cohort from Alabama Cancer Epidemiology, Biomarkers & Prevention. 26. DOI: 10.1158/1538-7755.Disp16-B35  0.514
2017 Merner N, Chandler M, Davis A, Jackson E, Bilgili E, Turner C, Shepp K, Spina S, Johnson B. Abstract A47: Cancer genetics research in Alabama: Recruitment mechanisms to reach the underserved Cancer Epidemiology, Biomarkers & Prevention. 26. DOI: 10.1158/1538-7755.Disp16-A47  0.422
2016 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, et al. Genome-wide association study in essential tremor identifies three new loci. Brain : a Journal of Neurology. PMID 27797806 DOI: 10.1093/Brain/Aww242  0.308
2016 Chandler MR, Bilgili EP, Merner ND. A Review of Whole Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery. Human Mutation. PMID 27226120 DOI: 10.1002/Humu.23017  0.428
2016 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. Journal of Psychiatric Research. 77: 22-26. PMID 26955005 DOI: 10.1016/J.Jpsychires.2016.02.016  0.392
2016 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. American Journal of Medical Genetics. Part A. PMID 26789910 DOI: 10.1002/Ajmg.A.37566  0.485
2015 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. Frontiers in Cellular Neuroscience. 9: 386. PMID 26528127 DOI: 10.3389/Fncel.2015.00386  0.386
2014 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, et al. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. Embo Reports. 15: 766-74. PMID 24928908 DOI: 10.15252/Embr.201438840  0.376
2013 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. European Heart Journal. 34: 1002-11. PMID 23161701 DOI: 10.1093/Eurheartj/Ehs383  0.642
2013 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. Human Mutation. 34: 66-9. PMID 22911656 DOI: 10.1002/Humu.22205  0.594
2013 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. Clinical Genetics. 83: 321-31. PMID 22725725 DOI: 10.1111/j.1399-0004.2012.01919.x  0.53
2012 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. European Journal of Neurology. 20: 534-539. PMID 23114103 DOI: 10.1111/Ene.12023  0.462
2012 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. American Journal of Human Genetics. 91: 548-52. PMID 22958904 DOI: 10.1016/J.Ajhg.2012.07.018  0.531
2012 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, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. American Journal of Human Genetics. 91: 313-9. PMID 22863194 DOI: 10.1016/J.Ajhg.2012.07.002  0.461
2012 Clark L, Mirzozoda K, Merner N, Dion P, Rouleau G, Louis E. Analysis of the FUS/TLS Gene in Essential Tremor (P04.049) Neurology. 78: P04.049-P04.049. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P04.049  0.335
2011 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, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American Journal of Human Genetics. 89: 219-30. PMID 21820098 DOI: 10.1016/J.Ajhg.2011.06.013  0.509
2009 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. 18: 492-7. PMID 19464195 DOI: 10.1016/J.Seizure.2009.04.009  0.623
2009 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, Shotland L, Li XC, et al. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. European Journal of Human Genetics : Ejhg. 17: 554-64. PMID 19107147 DOI: 10.1038/Ejhg.2008.231  0.647
2008 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. American Journal of Human Genetics. 82: 809-21. PMID 18313022 DOI: 10.1016/J.Ajhg.2008.01.010  0.631
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