Sean Ennis

Ontology type: schema:Person     

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Publications in SciGraph latest 50 shown

  • 2018-12 Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland in SCIENTIFIC REPORTS
  • 2017-12 Genomic insights into the population structure and history of the Irish Travellers in SCIENTIFIC REPORTS
  • 2017-12 The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland in SCIENTIFIC REPORTS
  • 2017-07 A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns in JOURNAL OF NEUROLOGY
  • 2016-08 Novel European SLC1A4 variant: infantile spasms and population ancestry analysis in JOURNAL OF HUMAN GENETICS
  • 2016-02 Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment in SCIENTIFIC REPORTS
  • 2015-12 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder in BMC MEDICAL GENETICS
  • 2015-02 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-02 Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways in NATURE NEUROSCIENCE
  • 2015 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? in JIMD REPORTS, VOLUME 26
  • 2014-12 The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism in NATURE COMMUNICATIONS
  • 2014-08 Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders in MOLECULAR PSYCHIATRY
  • 2014-05 TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function in NATURE GENETICS
  • 2014-04 A novel locus for episodic ataxia:UBR4 the likely candidate in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-09 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs in NATURE GENETICS
  • 2012-04 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder in HUMAN GENETICS
  • 2011-05 The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-07 Functional impact of global rare copy number variation in autism spectrum disorders in NATURE
  • 2009-10-08 A genome-wide linkage and association scan reveals novel loci for autism in NATURE
  • 2006-04 ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis in NATURE GENETICS
  • 2005-04 Uroplakin III is not a major candidate gene for primary vesicoureteral reflux in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1997-01 A medium-density genetic linkage map of the bovine genome in MAMMALIAN GENOME
  • 1996-11 Fluorescent in situ localization of the bovine Activin receptor type IIA locus on Chromosome 2 (2q2.3-2.4) in MAMMALIAN GENOME
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