Lista de obras - Sean Ennis - Dominio Público Uruguay

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

scientific journal article

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

artículo científico publicado en 1997

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

A novel locus for episodic ataxia:UBR4 the likely candidate

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Catalogue of inherited disorders found among the Irish Traveller population

artículo científico publicado en 2018

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

artículo científico

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

artículo científico publicado en 2015

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

article

Elevated serum angiogenin levels in ALS.

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Modern Methods for Delineating Metagenomic Complexity

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2001

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico

Tumor necrosis factor-alpha gene polymorphism in reflux nephropathy.

artículo científico publicado en 2004

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

artículo científico publicado en 1995

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

artículo científico publicado en 2014

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Lista de obras de 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