N. Merner

发表

Exome sequencing identifies FUS mutations as a cause of essential tremor.

G. Rouleau, J. Rivière, M. Panisset, 2012, American journal of human genetics.

A Novel Deletion in SMPX Causes a Rare form of X‐Linked Progressive Hearing Loss in Two Families Due to a Founder Effect

T. Stockley, T. Young, N. Merner, 2013, Human mutation.

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Sean Connors, Patrick S Parfrey, Barry Gallagher, 2008, American journal of human genetics.

A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk

N. Merner, Madison R. Bishop, Anna L. W. Huskey, 2019, PloS one.

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

N. Merner, Nancy D. Merner, Anna L. W. Huskey, 2020, Canine Medicine and Genetics.

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

M. Jog, W. Pryse-Phillips, G. Rouleau, 2012, American journal of human genetics.

Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases

N. Merner, Madison R. Bishop, Cierla McGuire Sams, 2020, BMC medical genomics.

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities

N. Merner, Madison R. Bishop, Anna L. W. Huskey, 2020, PloS one.

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43

A. Bassett, P. Parfrey, K. Hodgkinson, 2013, Clinical genetics.

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

A. Mes-Masson, B. Brais, H. Van Esch, 2011, American journal of human genetics.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

T. Walsh, M. King, B. Fernandez, 2009, European Journal of Human Genetics.

Establishment of the Alabama Hereditary Cancer Cohort ‐ strategies for the inclusion of underrepresented populations in cancer genetics research

N. Merner, Madison R. Bishop, Anna L. W. Huskey, 2018, Molecular genetics & genomic medicine.

Lower frequency of TLR9 variant associated with protection from breast cancer among African Americans

R. Desmond, N. Merner, K. Vuopala, 2017, PloS one.

Extra-Virgin Olive Oil Enhances the Blood–Brain Barrier Function in Mild Cognitive Impairment: A Randomized Controlled Trial

T. Denney, R. Beyers, G. Deshpande, 2022, Nutrients.

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia.

P. Awadalla, G. Rouleau, A. Mercado, 2016, Journal of psychiatric research.

Absence of bovine leukemia virus in the buffy coats of breast cancer cases from Alabama, USA.

N. Merner, Chengming Wang, Anil Poudel, 2021, Microbial pathogenesis.

A Review of Whole‐Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery

N. Merner, Nancy D. Merner, E. Bilgili, 2016, Human mutation.

A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review

L. Mottron, G. Rouleau, F. Hamdan, 2016, American journal of medical genetics. Part A.

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

G. Rouleau, K. Kahle, P. Dion, 2015, Front. Cell. Neurosci..

Genetic analysis of the FUS/TLS gene in essential tremor

E. Louis, G. Rouleau, L. Clark, 2013, European journal of neurology.

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

G. Rouleau, P. Dion, N. Merner, 2011, Clinical genetics.

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

P. Parfrey, K. Hodgkinson, T. Young, 2009, Seizure.

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

P. Elliott, P. Syrris, K. Hodgkinson, 2013, European heart journal.

A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans

N. Merner, Nancy D. Merner, Katie Goebel, 2017, Veterinary medicine and science.

Genome-wide association study in essential tremor identifies three new loci

Dietrich Haubenberger, Mark Hallett, Günther Deuschl, 2016, Brain : a journal of neurology.

CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk – A Comparative Oncology Approach to Discovery

N. Merner, Nancy D. Merner, Anna L. W. Huskey, 2021, Frontiers in Genetics.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

P. Awadalla, S. Moss, G. Rouleau, 2014, EMBO reports.

The Mutational Spectrum of Neurodevelopmental Disorders

G. Rouleau, P. Dion, N. Merner, 2015 .

An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk

N. Merner, Nancy D. Merner, Anna L. W. Huskey, 2022, BMC research notes.