| Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene ND Merner, KA Hodgkinson, AFM Haywood, S Connors, VM French, ... The American Journal of Human Genetics 82 (4), 809-821, 2008 | 582 | 2008 |
| Exome sequencing identifies FUS mutations as a cause of essential tremor ND Merner, SL Girard, H Catoire, CV Bourassa, VV Belzil, JB Rivière, ... The American Journal of Human Genetics 91 (2), 313-319, 2012 | 208 | 2012 |
| KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2 JB Rivière, S Ramalingam, V Lavastre, M Shekarabi, S Holbert, ... The American Journal of Human Genetics 89 (2), 219-230, 2011 | 197 | 2011 |
| Genetically encoded impairment of neuronal KCC 2 cotransporter function in human idiopathic generalized epilepsy KT Kahle, ND Merner, P Friedel, L Silayeva, B Liang, A Khanna, Y Shang, ... EMBO reports 15 (7), 766-774, 2014 | 192 | 2014 |
| Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia ND Merner, MR Chandler, C Bourassa, B Liang, AR Khanna, P Dion, ... Frontiers in cellular neuroscience 9, 386, 2015 | 108 | 2015 |
| The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p. S358L mutation in TMEM43 KA Hodgkinson, SP Connors, N Merner, A Haywood, TL Young, ... Clinical genetics 83 (4), 321-331, 2013 | 98 | 2013 |
| Genome-wide association study in essential tremor identifies three new loci SH Müller, SL Girard, F Hopfner, ND Merner, CV Bourassa, D Lorenz, ... Brain 139 (12), 3163-3169, 2016 | 92 | 2016 |
| A review of whole‐exome sequencing efforts toward hereditary breast cancer susceptibility gene discovery MR Chandler, EP Bilgili, ND Merner Human mutation 37 (9), 835-846, 2016 | 60 | 2016 |
| Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada AFM Haywood, ND Merner, KA Hodgkinson, J Houston, P Syrris, V Booth, ... European heart journal 34 (13), 1002-1011, 2013 | 56 | 2013 |
| VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families CV Bourassa, IA Meijer, ND Merner, KK Grewal, MG Stefanelli, ... The American Journal of Human Genetics 91 (3), 548-552, 2012 | 50 | 2012 |
| Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia ND Merner, A Mercado, AR Khanna, A Hodgkinson, V Bruat, P Awadalla, ... Journal of psychiatric research 77, 22-26, 2016 | 48 | 2016 |
| Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15 L Doucette, ND Merner, S Cooke, E Ives, D Galutira, V Walsh, T Walsh, ... European journal of human genetics 17 (5), 554-564, 2009 | 48 | 2009 |
| Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A K Mahoney, SJ Moore, D Buckley, M Alam, P Parfrey, S Penney, N Merner, ... Seizure 18 (7), 492-497, 2009 | 47 | 2009 |
| A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review N Merner, B Forgeot d'Arc, SC Bell, G Maussion, H Peng, J Gauthier, ... American Journal of Medical Genetics Part A 170 (5), 1225-1235, 2016 | 45 | 2016 |
| Genetic analysis of the FUS/TLS gene in essential tremor N Parmalee, K Mirzozoda, S Kisselev, N Merner, P Dion, G Rouleau, ... European journal of neurology 20 (3), 534-539, 2013 | 41 | 2013 |
| A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans K Goebel, ND Merner Veterinary Medicine and Science 3 (2), 51-62, 2017 | 29 | 2017 |
| A Novel Deletion in SMPX Causes a Rare form of X‐Linked Progressive Hearing Loss in Two Families Due to a Founder Effect N Abdelfatah, N Merner, J Houston, T Benteau, A Griffin, L Doucette, ... Human mutation 34 (1), 66-69, 2013 | 29 | 2013 |
| Extra-Virgin Olive Oil Enhances the Blood–Brain Barrier Function in Mild Cognitive Impairment: A Randomized Controlled Trial A Kaddoumi, TS Denney Jr, G Deshpande, JL Robinson, RJ Beyers, ... Nutrients 14 (23), 5102, 2022 | 19 | 2022 |
| 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 … ALW Huskey, K Goebel, C Lloveras-Fuentes, I McNeely, ND Merner Canine Medicine and Genetics 7, 1-13, 2020 | 18 | 2020 |
| Establishment of the Alabama Hereditary Cancer Cohort‐strategies for the inclusion of underrepresented populations in cancer genetics research MR Bishop, A Shah, M Shively, ALW Huskey, SM Omeler, EP Bilgili, ... Molecular Genetics & Genomic Medicine 6 (5), 766-778, 2018 | 12 | 2018 |
Guy RouleauMontreal Neurological Institute-Hospital, McGill UniversityVerified email at mcgill.ca
