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N. Merner · SciRah

Researcher profile · Semantic Scholar

N. Merner

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N. Merner — researcher profile on SciRah

h-index: 18
Works: 48
Citations: 1,929

Most-cited papers

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
N. Merner, K. Hodgkinson, A. Haywood, S. Connors +11 more
2008American Journal of Human Genetics510 citations Open access
Semantic Scholar
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
J. Rivière, S. Ramalingam, Valérie Lavastre, M. Shekarabi +19 more
2011American Journal of Human Genetics199 citations Open access
Semantic Scholar
Exome sequencing identifies FUS mutations as a cause of essential tremor.
N. Merner, S. Girard, Hélène Catoire, Cynthia V. Bourassa +19 more
2012American Journal of Human Genetics188 citations Open access
Semantic Scholar
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy
Kristopher T. Kahle, N. Merner, Perrine Friedel, L. Silayeva +19 more
2014EMBO Reports186 citations Open access
Semantic Scholar
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia
N. Merner, Madison R. Chandler, Cynthia V. Bourassa, Bo Liang +4 more
2015Frontiers in Cellular Neuroscience106 citations Open access
Semantic Scholar
The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43
K. Hodgkinson, SP Connors, N. Merner, A. Haywood +6 more
2013Clinical Genetics91 citations
Semantic Scholar
Genome-wide association study in essential tremor identifies three new loci
Stefanie H. Müller, S. Girard, Franziska Hopfner, N. Merner +45 more
2016Brain : a journal of neurology89 citations Open access
Semantic Scholar
Extra-Virgin Olive Oil Enhances the Blood–Brain Barrier Function in Mild Cognitive Impairment: A Randomized Controlled Trial
A. Kaddoumi, T. Denney, G. Deshpande, Jennifer L. Robinson +8 more
2022Nutrients68 citations Open access
Semantic Scholar
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
A. Haywood, N. Merner, K. Hodgkinson, J. Houston +8 more
2013European Heart Journal55 citations
Semantic Scholar
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
Cynthia V. Bourassa, I. Meijer, N. Merner, K. K. Grewal +11 more
2012American Journal of Human Genetics52 citations Open access
Semantic Scholar
A Review of Whole‐Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery
Madison R. Chandler, E. Bilgili, N. Merner
2016Human Mutation48 citations Open access
Semantic Scholar
A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review
N. Merner, Baudouin Forgeot d'Arc, Scott C. Bell, G. Maussion +8 more
2016American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Lance P. Doucette, N. Merner, S. Cooke, E. Ives +13 more
2009European Journal of Human Genetics43 citations Open access
Semantic Scholar
Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia.
N. Merner, A. Mercado, A. Khanna, Alan Hodgkinson +5 more
2016Journal of Psychiatric Research42 citations
Semantic Scholar
Genetic analysis of the FUS/TLS gene in essential tremor
Nancy L. Parmalee, K. Mirzozoda, S. Kisselev, N. Merner +4 more
2012European Journal of Neurology35 citations Open access
Semantic Scholar
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
Krista Mahoney, S. Moore, D. Buckley, Muhammed Alam +5 more
2009Seizure28 citations Open access
Semantic Scholar
A Novel Deletion in SMPX Causes a Rare form of X‐Linked Progressive Hearing Loss in Two Families Due to a Founder Effect
Nelly Abdelfatah, N. Merner, J. Houston, T. Benteau +5 more
2013Human Mutation25 citations Open access
Semantic Scholar
A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans
Katie Goebel, N. Merner
2017Veterinary Medicine and Science24 citations Open access
Semantic Scholar
Lower frequency of TLR9 variant associated with protection from breast cancer among African Americans
Madison R. Chandler, K. Keene, Johanna Tuomela, A. Forero-Torres +5 more
2017PLoS ONE18 citations Open access
Semantic Scholar
CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk – A Comparative Oncology Approach to Discovery
Anna L. W. Huskey, I. McNeely, N. Merner
2021Frontiers in Genetics13 citations Open access
Semantic Scholar
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
Anna L. W. Huskey, Katie Goebel, Carlos Lloveras-Fuentes, I. McNeely +1 more
2020Canine Medicine and Genetics13 citations Open access
Semantic Scholar
Establishment of the Alabama Hereditary Cancer Cohort ‐ strategies for the inclusion of underrepresented populations in cancer genetics research
Madison R. Bishop, Amit Shah, Melissa Shively, Anna L. W. Huskey +13 more
2018Molecular Genetics & Genomic Medicine13 citations Open access
Semantic Scholar
Gene panel screening for insight towards breast cancer susceptibility in different ethnicities
Madison R. Bishop, Sophonie Omeler-Fenaud, Anna L. W. Huskey, N. Merner
2020PLoS ONE10 citations Open access
Semantic Scholar
Absence of bovine leukemia virus in the buffy coats of breast cancer cases from Alabama, USA.
Folasade A. Adekanmbi, I. McNeely, Sophonie M. Omeler, Anwar A. Kalalah +3 more
2021Microbial Pathogenesis9 citations
Semantic Scholar
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk
Madison R. Bishop, Anna L. W. Huskey, J. Hetzel, N. Merner
2019PLoS ONE8 citations Open access
Semantic Scholar
Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases
Cierla McGuire Sams, Kasey Shepp, Jada Pugh, Madison R. Bishop +1 more
2020BMC Medical Genomics6 citations Open access
Semantic Scholar
An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
Anna L. W. Huskey, N. Merner
2022BMC Research Notes3 citations Open access
Semantic Scholar
Abstract A29: Investigation of RECQL variants in European and African American breast cancer cohorts
Madison R. Chandler, Sydney Bergstresser, Anna L. W. Huskey, Elizabeth Stallworth +4 more
2018Personalized Risk2 citations
Semantic Scholar
A VAMP1 Mutation Causes Chromosome 12p13 Hereditary Spastic Ataxia in Newfoundland Families (S43.002)
I. Meijer, Cynthia V. Bourassa, N. Merner, K. K. Grewal +11 more
2013Neurology1 citations
Semantic Scholar
Abstract 5686: Identifying rare microRNA risk variants for hereditary breast cancer in African American individuals
Sheniqua R. Glover, Troy LoBue, N. Merner
2024Cancer Research0 citations
Semantic Scholar
Abstract C041: FAN1 splice variant as a possible risk variant for African American hereditary breast cancer and understanding its role in tumorigenesis
Sheniqua R. Glover, C. M. Sams, Madison R. Bishop, Troy LoBue +2 more
2023Cancer Epidemiology, Biomarkers & Prevention0 citations
Semantic Scholar
Abstract A011: Whole genome sequencing of the Alabama Hereditary Cancer Cohort to identify African American breast cancer genetic risk variants
Troy LoBue, I. McNeely, N. Merner
2023Cancer Epidemiology, Biomarkers & Prevention0 citations
Semantic Scholar
Abstract B088: The Alabama Hereditary Cancer Cohort – New strategies for African American recruitment
N. Merner, Elizabeth Stallworth, Erica Reasor, Katia Khoury +3 more
2023Cancer Epidemiology, Biomarkers & Prevention0 citations
Semantic Scholar
21 Epidemiology of Infectious Keratitis at University of Rochester Medical Center
Troy LoBue, Betsy Stallworth, Sheniqua R. Glover, Isaac Mcneely +1 more
2023Journal of Clinical and Translational Science0 citations Open access
Semantic Scholar
An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
Anna L. W. Huskey, N. Merner
2022BMC Research Notes0 citations Open access
Semantic Scholar
Abstract B043: Getting proximate: Facing the truth about African American hereditary breast cancer research – insight from Alabama
N. Merner, Elizabeth Stallworth, Madison R. Bishop, Sophonie Omeler-Fenaud +2 more
2020Poster Presentations - Proffered Abstracts0 citations
Semantic Scholar
Abstract C041: Complexities of hereditary breast cancer: Investigating a large African American family
Sophonie Omeler-Fenaud, Madison R. Bishop, Elizabeth Stallworth, I. McNeely +1 more
2020Poster Presentations - Proffered Abstracts0 citations
Semantic Scholar
Abstract A62: Canine pedigree analysis as a model of hereditary breast cancer
Carlos Lloveras-Fuentes, Katie Goebel, N. Merner
2018Other Topics0 citations
Semantic Scholar
Cover
Madison R. Bishop, Amit Shah, Melissa Shively, Anna L. W. Huskey +13 more
2018Molecular Genetics & Genomic Medicine0 citations Open access
Semantic Scholar
Abstract B35: A breast cancer susceptibility gene screening panel for variant discovery and gene exclusion in an African American cohort from Alabama
Madison R. Chandler, Kasey Shepp, S. Spina, N. Merner
20170 citations
Semantic Scholar
Abstract A47: Cancer genetics research in Alabama: Recruitment mechanisms to reach the underserved
N. Merner, Madison R. Chandler, Amber Davis, Ebony Jackson +5 more
20170 citations
Semantic Scholar
The Mutational Spectrum of Neurodevelopmental Disorders
N. Merner, P. Dion, G. Rouleau
20150 citations
Semantic Scholar
Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor (P05.031)
N. Dupré, N. Merner, S. Girard, Hélène Catoire +16 more
2013Neurology0 citations
Semantic Scholar
Analysis of the FUS/TLS Gene in Essential Tremor (P04.049)
L. Clark, K. Mirzozoda, N. Merner, P. Dion +2 more
20120 citations
Semantic Scholar
Insensitivity to Pain: Lessons from Recent Genetics Advances
N. Merner, P. Dion, A. Szuto, G. Rouleau
20120 citations
Semantic Scholar
A molecular genetics approach to gene discovery of Mendelian diseases on the island of Newfoundland
N. Merner
20110 citations
Semantic Scholar
Characterization of interacting partners of WNK1/HSN2 in hereditary neuropathy sensory and autonomous type II (HSAN2)
S. Ramalingam, J. Rivière, Lavastre, M. Shekarabi +19 more
20110 citations
Semantic Scholar
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Lance P. Doucette, N. Merner, S. Cooke, E. Ives +13 more
2009European Journal of Human Genetics0 citations Open access
Semantic Scholar

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