Nancy D. Merner

发表

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

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

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

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

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

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

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.

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.

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.

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.

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..

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

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

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.

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

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

The Mutational Spectrum of Neurodevelopmental Disorders

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

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

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

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.

Genetic analysis of the FUS/TLS gene in essential tremor

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

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

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

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.

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.

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.

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.

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

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

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.