List of works - Sean Ennis

A PCR-based sex-determination assay in cattle based on the bovine amelogenin locus

article

A Study of Alveolar Rhabdomyosarcoma Copy Number Alterations by Single Nucleotide Polymorphism Analysis

article

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

scientific article published on 30 June 2015

A chromosomal 5q31.1 gain involvingPITX1causes Liebenberg syndrome

article published in 2014

A genome-wide association study of recipient genotype and medium-term kidney allograft function

scientific article

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A medium-density genetic linkage map of the bovine genome.

scientific article published in January 1997

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.

scientific article published on 15 June 2017

A novel locus for episodic ataxia:UBR4 the likely candidate

scientific article published on 28 August 2013

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

scientific article published on 26 February 2006

Agenesis of the corpus callosum with midline lipoma associated with an Xp22.31–Xp22.12 deletion

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

scientific article

Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world

scientific article published on 9 July 2015

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria

scientific article published on 3 February 2014

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder

scientific article published on 23 April 2016

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies

scientific article published on 9 June 2016

Catalogue of inherited disorders found among the Irish Traveller population

scientific article published on 22 January 2018

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort

scientific article published on 10 April 2015

Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

scientific article published on 22 September 2017

Detection of polymorphisms in the prion protein gene in a population of Irish Suffolk sheep

article

Elevated serum angiogenin levels in ALS.

scientific article published in November 2006

Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.

scientific article

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

scientific article published on 15 October 2013

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum

scientific article published on 19 May 2019

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

scientific article published in June 2009

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

scientific article (publication date: December 2011)

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

article

Genome-wide association study of osteochondrosis in the tarsocrural joint of Dutch Warmblood horses identifies susceptibility loci on chromosomes 3 and 10.

scientific article published on 25 December 2012

Genomic insights into the population structure and history of the Irish Travellers

scientific article published on 09 February 2017

Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics

scientific article

Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics

article

HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships

scientific article

High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcoma

scientific article published in June 2013

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

scientific article

Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.

scientific article published on 19 August 2010

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing

scientific article published on 12 September 2016

Late-onset central hypoventilation syndrome: a family genetic study.

scientific article

Modern Methods for Delineating Metagenomic Complexity

scientific article

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

scientific article

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy

scientific article published on 3 August 2015

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

scientific article published on 19 May 2016

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype

scientific article published in July 2017

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

scientific article published on 4 August 2015

Personalized Cardio-Metabolic Responses to an Anti-Inflammatory Nutrition Intervention in Obese Adolescents: A Randomized Controlled Crossover Trial

article

Prion protein gene polymorphisms in pedigree sheep in Ireland.

scientific article

Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases

scientific article published on 14 April 2020

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

scientific article published on 21 February 2016

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

scientific article published in April 2012

SRY-negative XX sex reversal in a pony: a case report

scientific article published on 01 March 2001

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

scientific journal article

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

scientific article

The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

scientific article published on 8 December 2017

The diagnosis of freemartinism in cattle using sex-specific DNA sequences

scientific article published on 01 August 1999

Towards the identification of a genetic basis for Landau-Kleffner syndrome

scientific article published on 14 May 2014

Tumor necrosis factor-alpha gene polymorphism in reflux nephropathy.

scientific article published in October 2004

UCD001: a bovine cosmid containing a polymorphic dinucleotide repeat maps to chromosome 4.

scientific article

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

scientific article

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

scientific article published on 9 December 2015

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux

scientific article published in April 2005

List of works by Sean Ennis

A PCR-based sex-determination assay in cattle based on the bovine amelogenin locus

A Study of Alveolar Rhabdomyosarcoma Copy Number Alterations by Single Nucleotide Polymorphism Analysis

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

A chromosomal 5q31.1 gain involvingPITX1causes Liebenberg syndrome

A genome-wide association study of recipient genotype and medium-term kidney allograft function

A genome-wide scan for common alleles affecting risk for autism

A medium-density genetic linkage map of the bovine genome.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.

A novel locus for episodic ataxia:UBR4 the likely candidate

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Agenesis of the corpus callosum with midline lipoma associated with an Xp22.31–Xp22.12 deletion

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies

Catalogue of inherited disorders found among the Irish Traveller population

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort

Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

Detection of polymorphisms in the prion protein gene in a population of Irish Suffolk sheep

Elevated serum angiogenin levels in ALS.

Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

Functional impact of global rare copy number variation in autism spectrum disorders

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

Genome-wide association study of osteochondrosis in the tarsocrural joint of Dutch Warmblood horses identifies susceptibility loci on chromosomes 3 and 10.

Genomic insights into the population structure and history of the Irish Travellers

Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics

Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics

HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships

High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcoma

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.

Individual common variants exert weak effects on the risk for autism spectrum disorders

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing

Late-onset central hypoventilation syndrome: a family genetic study.

Modern Methods for Delineating Metagenomic Complexity

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Personalized Cardio-Metabolic Responses to an Anti-Inflammatory Nutrition Intervention in Obese Adolescents: A Randomized Controlled Crossover Trial

Prion protein gene polymorphisms in pedigree sheep in Ireland.

Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

SRY-negative XX sex reversal in a pony: a case report

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

The diagnosis of freemartinism in cattle using sex-specific DNA sequences

Towards the identification of a genetic basis for Landau-Kleffner syndrome

Tumor necrosis factor-alpha gene polymorphism in reflux nephropathy.

UCD001: a bovine cosmid containing a polymorphic dinucleotide repeat maps to chromosome 4.

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux