User profiles for "author:Sean Ennis"

Sean Ennis

Verified email at ucd.ie
Cited by 14292

[PDF][PDF] Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

D Pinto, E Delaby, D Merico, M Barbosa… - The American Journal of …, 2014 - cell.com
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …

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

MJ Greenway, PM Andersen, C Russ, S Ennis… - Nature …, 2006 - nature.com
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic
lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of …

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

R Anney, L Klei, D Pinto, J Almeida… - Human molecular …, 2012 - academic.oup.com
While it is apparent that rare variation can play an important role in the genetic architecture
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …

[HTML][HTML] Genetic associations with aging muscle: a systematic review

J Pratt, C Boreham, S Ennis, AW Ryan, G De Vito - Cells, 2019 - mdpi.com
The age-related decline in skeletal muscle mass, strength and function known as
'sarcopenia'is associated with multiple adverse health outcomes, including cardiovascular …

[PDF][PDF] Geospatial resolution of human and bacterial diversity with city-scale metagenomics

E Afshinnekoo, C Meydan, S Chowdhury, D Jaroudi… - Cell systems, 2015 - cell.com
The panoply of microorganisms and other species present in our environment influence
human health and disease, especially in cities, but have not been profiled with …

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

JP Casey, T Magalhaes, JM Conroy, R Regan, N Shah… - Human genetics, 2012 - Springer
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and
heterogeneous aetiology. It is primarily characterized by altered cognitive ability including …

[PDF][PDF] Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder

R Maier, G Moser, GB Chen, S Ripke, D Absher… - The American Journal of …, 2015 - cell.com
Genetic risk prediction has several potential applications in medical research and clinical
practice and could be used, for example, to stratify a heterogeneous population of patients …

[BOOK][B] Marketing theory and practice

MJ Baker, O Badot, K Bernard, S Brown, D Brownlie… - 1995 - research.aston.ac.uk
Marketing theory and practice — Aston Research Explorer Skip to main navigation Skip to
search Skip to main content Aston Research Explorer Home Aston Research Explorer Logo …

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

EM Kenny, P Cormican, S Furlong, E Heron… - Molecular …, 2014 - nature.com
Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex
neurodevelopmental disorders that may share an underlying pathology suggested by …

Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion

NM Allen, J Conroy, A Shahwan, B Lynch… - …, 2016 - Wiley Online Library
Early onset epileptic encephalopathies (EOEE s) represent a significant diagnostic
challenge. Newer genomic approaches have begun to elucidate an increasing number of …