about
Functional impact of global rare copy number variation in autism spectrum disordersUnexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationshipsTDP2 protects transcription from abortive topoisomerase activity and is required for normal neural functionFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeGenetic relationship between five psychiatric disorders estimated from genome-wide SNPsIndividual common variants exert weak effects on the risk for autism spectrum disordersA genome-wide scan for common alleles affecting risk for autismAn inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.A genome-wide association study of recipient genotype and medium-term kidney allograft function.A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world.NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.Geospatial Resolution of Human and Bacterial Diversity with City-Scale MetagenomicsCommon polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.Genomic insights into the population structure and history of the Irish Travellers.A novel locus for episodic ataxia:UBR4 the likely candidate.Towards the identification of a genetic basis for Landau-Kleffner syndrome.Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.A medium-density genetic linkage map of the bovine genome.Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.Tumor necrosis factor-alpha gene polymorphism in reflux nephropathy.Identification of a mutation in LARS as a novel cause of infantile hepatopathy.The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland.Catalogue of inherited disorders found among the Irish Traveller population.UCD001: a bovine cosmid containing a polymorphic dinucleotide repeat maps to chromosome 4.A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.Late-onset central hypoventilation syndrome: a family genetic study.Modern Methods for Delineating Metagenomic Complexity.
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Sean Ennis
@ast
Sean Ennis
@en
Sean Ennis
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Sean Ennis
@nl
type
label
Sean Ennis
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Sean Ennis
@en
Sean Ennis
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Sean Ennis
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prefLabel
Sean Ennis
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Sean Ennis
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Sean Ennis
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Sean Ennis
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P106
P1153
7005288460
P21
P31
P496
0000-0002-4330-1386