Find a Research Expert

Experts
 Menu

Sean Ennis

Institution

University College Dublin

Contact

Subjects

Biochemistry

Psychiatry

Details
Publications 52
As first author 2
As last author 9
Unique topics 389
Collaborations 80
Sources 10
Are you Sean Ennis? Click here to provide feedback on your profile.
All
2017
2016
2015
2014
2013
2012
2011
2010
2008
Earlier
All
2017
2016
2015
2014
2013
2012
2011
2010
2008
Earlier

2017

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca(2+) signal patterns.
2017

Catalogue of inherited disorders found among the Irish Traveller population.
2017

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
2017

Genomic insights into the population structure and history of the Irish Travellers.
2017

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.
2017

The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland.
2016

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.
2016

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
2016

Genomic insights into the population structure and history of the Irish Travellers.
2016

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.
2015

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder
2015

Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world.
2015

Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics.
2015

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.
2015

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.
2015

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
2015

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?
2015

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
2015

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
2014

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
2014

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
2014

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.
2014

Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.
2014

Towards the identification of a genetic basis for Landau-Kleffner syndrome.
2014

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population
2013

A novel locus for episodic ataxia:UBR4 the likely candidate.
2013

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.
2013

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
2013

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
2013

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
2012

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
2012

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.
2012

Genome-wide association study of osteochondrosis in the tarsocrural joint of Dutch Warmblood horses identifies susceptibility loci on chromosomes 3 and 10.
2012

HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships.
2012

Identification of a mutation in LARS as a novel cause of infantile hepatopathy
2012

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
2011

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype
2010

A genomewide scan for common alleles affecting risk for autism.
2010

Functional impact of global rare copy number variation in autism spectrum disorders
2010

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses.
2008

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.
2006

Elevated serum angiogenin levels in ALS.
2005

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
2004

A novel candidate region for ALS on chromosome 14q11.2.
2003

Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.
2001

SRY-negative XX sex reversal in a pony: a case report.
2000

Detection of polymorphisms in the prion protein gene in a population of Irish Suffolk sheep.
1999

The diagnosis of freemartinism in cattle using sex-specific DNA sequences.
1996

Cloning of the bovine activin receptor type II gene (ACVR2) and mapping to chromosome 2 (BTA2).
1995

UCD001: a bovine cosmid containing a polymorphic dinucleotide repeat maps to chromosome 4.
1994

A PCR-based sex-determination assay in cattle based on the bovine amelogenin locus.
1990

Acetazolamide-insensitive carbonic anhydrase activities in liver and tonic skeletal muscle of adult male rats with streptozotocin-induced diabetes mellitus.

These arethe10 unique sources for Sean Ennis's 52 publications. A single publication may appear in multiple sources. Click on a name or publication count to see the publications for a particular source.

Source #
Ireland -> National University of Ireland Galway 4
Ireland -> National University of Ireland Galway -> PubMed 4
Ireland -> Royal College of Surgeons in Ireland 9
Ireland -> Royal College of Surgeons in Ireland -> PubMed 8
Ireland -> TU Dublin (Tallaght Campus) 3
Ireland -> TU Dublin (Tallaght Campus) -> PubMed 3
Ireland -> Trinity College Dublin 8
Ireland -> Trinity College Dublin -> PubMed 3
Ireland -> University College Dublin 33
Ireland -> University College Dublin -> PubMed 25

  1. Further insights

    Clicking through these tabs will give you a wealth of further insights into this expert through their commonly used topics, the evolution of their expertise, their collaborators and their publications.

  2. Details

    Here is a quick breakdown of this expert's publication history

  3. Contact

    If this is the expert you have been looking for, simply click here to make contact.