List of works - Nancy D Merner

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

scientific article published on 26 May 2016

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

scientific article

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

scientific article

A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect

scientific article published on 11 October 2012

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

scientific article published on 15 August 2019

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

scientific article

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

scientific article published on 01 July 2018

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

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

scientific article published on 27 February 2016

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

scientific article published on 31 August 2020

Genetic analysis of the FUS/TLS gene in essential tremor

scientific article published on November 2012

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

scientific article

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

scientific article published on 20 October 2016

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

scientific article

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

scientific article published on 8 September 2017

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

scientific article

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

scientific article published on 01 December 2021

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

scientific article published on 01 January 2011

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

scientific article

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

scientific article

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

scientific article published on 13 August 2012

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

scientific article

List of works by Nancy D Merner

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

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

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

A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect

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

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

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

Exome sequencing identifies FUS mutations as a cause of essential tremor

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

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

Genetic analysis of the FUS/TLS gene in essential tremor

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

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

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

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

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

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

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

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

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

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

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families