Full Text Journal Articles by
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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland

Suja Somanadhan, Emma Nicholson, Emma Dorris, Aoife Brinkley, Avril Kennan, Eileen Treacy, Awan Atif, Sean Ennis, Vicky McGrath, Derick Mitchell, Grace O’Sullivan, Julie Power, Anne Lawlor, Paul Harkin, Sally Ann Lynch, Philip Watt, Avril Daly, Susie Donnelly, Thilo Kroll,

<ns5:p><ns5:bold>Background:</ns5:bold></ns5:p><ns5:p> Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease ... Read more >>

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The role of rare compound heterozygous events in autism spectrum disorder.

Bochao Danae Lin, Fabrice Colas, Isaac J Nijman, Jelena Medic, William Brands, Jeremy R Parr, Kristel R van Eijk, Sabine M Klauck, Andreas G Chiocchetti, Christine M Freitag, Elena Maestrini, Elena Bacchelli, Hilary Coon, Astrid Vicente, Guiomar Oliveira, Alistair T Pagnamenta, Louise Gallagher, Sean Ennis, Richard Anney, Thomas Bourgeron, Jurjen J Luykx, Jacob Vorstman,

The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the occurrence of a deletion together with a functional nucleotide variant on the remaining allele, ... Read more >>

Transl Psychiatry (Translational psychiatry)
[2020, 10(1):204]

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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases.

Suja Somanadhan, Emma Nicholson, Emma Dorris, Aoife Brinkley, Avril Kennan, Eileen Treacy, Awan Atif, Sean Ennis, Vicky McGrath, Derick Mitchell, Grace O'Sullivan, Julie Power, Anne Lawlor, Paul Harkin, Sally Ann Lynch, Philip Watt, Avril Daly, Susie Donnelly, Thilo Kroll,

Background: The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. This approach enabled clinicians, patients, carers and researchers to work together to identify top research priorities for rare ... Read more >>

HRB Open Res (HRB open research)
[2020, 3:13]

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Increased Ca2+ signaling in NRXN1α +/- neurons derived from ASD induced pluripotent stem cells.

Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew O'Sullivan, Amirhossein Jalali, Eva B Forman, Sally A Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters, Peter Dockery, Timothy O'Brien, Leo R Quinlan, Louise Gallagher, Sanbing Shen,

Background:Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to different clinical symptoms ... Read more >>

Mol Autism (Molecular autism)
[2019, 10:52]

Cited: 2 times

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Genetic Associations with Aging Muscle: A Systematic Review.

Jedd Pratt, Colin Boreham, Sean Ennis, Anthony W Ryan, Giuseppe De Vito,

The age-related decline in skeletal muscle mass, strength and function known as 'sarcopenia' is associated with multiple adverse health outcomes, including cardiovascular disease, stroke, functional disability and mortality. While skeletal muscle properties are known to be highly heritable, evidence regarding the specific genes underpinning this heritability is currently inconclusive. This ... Read more >>

Cells (Cells)
[2019, 9(1):]

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FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.

Eva B Forman, Kathleen M Gorman, Sean Ennis, Mary D King,

Herein we present two siblings with hereditary spastic paraplegia caused by novel compound heterozygous variant and deletion in <i>FARS2</i> and expansion of the disease spectrum to include dysphonia. ... Read more >>

J Child Neurol (Journal of child neurology)
[2019, 34(10):621]

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

Edmund Gilbert, Seamus O'Reilly, Michael Merrigan, Darren McGettigan, Anne M Molloy, Lawrence C Brody, Walter Bodmer, Katarzyna Hutnik, Sean Ennis, Daniel J Lawson, James F Wilson, Gianpiero L Cavalleri,

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper. ... Read more >>

Sci Rep (Scientific reports)
[2018, 8(1):7208]

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Personalized Cardio-Metabolic Responses to an Anti-Inflammatory Nutrition Intervention in Obese Adolescents: A Randomized Controlled Crossover Trial.

Aoibheann M McMorrow, Ruth M Connaughton, Tiago R Magalhães, Fiona C McGillicuddy, Maria F Hughes, David Cheishvili, Melissa J Morine, Sean Ennis, Marie-Louise Healy, Edna F Roche, Richard E Tremblay, Moshe Szyf, Fiona E Lithander, Helen M Roche,

<h4>Scope</h4>Chronic inflammation and hypoadiponectinemia are characteristics of obesity-induced insulin resistance (IR). The effect of an anti-inflammatory nutrition supplement (AINS) on IR and adiponectin biology in overweight adolescents was investigated. The secondary objective was to examine the extent to which individuals' biomarker profiles, derived from baseline phenotypes, predicted response or not ... Read more >>

Mol Nutr Food Res (Molecular nutrition & food research)
[2018, 62(10):e1701008]

Cited: 3 times

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Catalogue of inherited disorders found among the Irish Traveller population.

Sally Ann Lynch, Ellen Crushell, Deborah M Lambert, Niall Byrne, Kathleen Gorman, Mary D King, Andrew Green, Siobhan O'Sullivan, Fiona Browne, Joanne Hughes, Ina Knerr, Ahmad A Monavari, Melanie Cotter, Vivienne P M McConnell, Bronwyn Kerr, Simon A Jones, Catriona Keenan, Nuala Murphy, Declan Cody, Sean Ennis, Jackie Turner, Alan D Irvine, Jillian Casey,

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous ... Read more >>

J Med Genet (Journal of medical genetics)
[2018, 55(4):233-239]

Cited: 3 times

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

Edmund Gilbert, Seamus O'Reilly, Michael Merrigan, Darren McGettigan, Anne M Molloy, Lawrence C Brody, Walter Bodmer, Katarzyna Hutnik, Sean Ennis, Daniel J Lawson, James F Wilson, Gianpiero L Cavalleri,

The extent of population structure within Ireland is largely unknown, as is the impact of historical migrations. Here we illustrate fine-scale genetic structure across Ireland that follows geographic boundaries and present evidence of admixture events into Ireland. Utilising the 'Irish DNA Atlas', a cohort (n = 194) of Irish individuals with four ... Read more >>

Sci Rep (Scientific reports)
[2017, 7(1):17199]

Cited: 5 times

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

Eva B Forman, Kathleen M Gorman, Judith Conroy, Neil Arthur, Ciara Grant, Sean Ennis, Nicholas M Allen, Sally Ann Lynch, Mary D King,

Arch Dis Child (Archives of disease in childhood)
[2018, 103(3):304]

Cited: 0 times

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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, Raymond K Walters, Jack A Kosmicki, Jakob Grove, Kaitlin E Samocha, Jacqueline I Goldstein, Aysu Okbay, Jonas Bybjerg-Grauholm, Thomas Werge, David M Hougaard, Jacob Taylor, , , David Skuse, Bernie Devlin, Richard Anney, Stephan J Sanders, Somer Bishop, Preben Bo Mortensen, Anders D Børglum, George Davey Smith, Mark J Daly, Elise B Robinson,

Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach ... Read more >>

Nat Genet (Nature genetics)
[2017, 49(7):978-985]

Cited: 105 times

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

Kathleen M Gorman, Eva Forman, Judith Conroy, Nicholas M Allen, Amre Shahwan, Sally A Lynch, Sean Ennis, Mary D King,

Epilepsia (Epilepsia)
[2017, 58(7):1301-1302]

Cited: 0 times

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

Jillian P Casey, Taisei Hirouchi, Chihiro Hisatsune, Bryan Lynch, Raymond Murphy, Aimee M Dunne, Akitoshi Miyamoto, Sean Ennis, Nick van der Spek, Bronagh O'Hici, Katsuhiko Mikoshiba, Sally Ann Lynch,

We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant spinocerebellar ataxia characterized by early motor delay, poor coordination, gait ataxia, and dysarthria. Whole exome sequencing identified a novel missense variant (c.106C>T; p.[Arg36Cys]) in the suppressor domain ... Read more >>

J Neurol (Journal of neurology)
[2017, 264(7):1444-1453]

Cited: 8 times

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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

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<h4>Background</h4>Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the ... Read more >>

Mol Autism (Molecular autism)
[2017, 8:21]

Cited: 108 times

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

Edmund Gilbert, Shai Carmi, Sean Ennis, James F Wilson, Gianpiero L Cavalleri,

The Irish Travellers are a population with a history of nomadism; consanguineous unions are common and they are socially isolated from the surrounding, 'settled' Irish people. Low-resolution genetic analysis suggests a common Irish origin between the settled and the Traveller populations. What is not known, however, is the extent of ... Read more >>

Sci Rep (Scientific reports)
[2017, 7:42187]

Cited: 8 times

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

Jillian Casey, Karen Flood, Sean Ennis, Emma Doyle, Michael Farrell, Sally Ann Lynch,

<h4>Objective</h4>To determine the underlying molecular aetiology in a non-consanguineous Irish family who have had three fetal losses because of a primary myopathy characterised by fetal akinesia, arthrogryposis multiplex, bilateral pulmonary hypoplasia and reduced muscle bulk.<h4>Methods</h4>Fetal DNA extracted from amniotic cells was whole genome amplified and subjected to whole exome sequencing.<h4>Results</h4>Whole ... Read more >>

Prenat Diagn (Prenatal diagnosis)
[2016, 36(11):1020-1026]

Cited: 6 times

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

Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari, Andrew Green, Sally A Lynch, Ellen Crushell, Joanne Hughes,

We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her ... Read more >>

Clin Dysmorphol (Clinical dysmorphology)
[2016, 25(4):146-151]

Cited: 3 times

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

Judith Conroy, Nicholas M Allen, Kathleen Gorman, Eoghan O'Halloran, Amre Shahwan, Bryan Lynch, Sally A Lynch, Sean Ennis, Mary D King,

SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. It has been mainly reported in the Ashkenazi-Jewish population with affected individuals homozygous for the p.Glu256Lys variant. Exome sequencing performed in an Irish proband identified a novel homozygous nonsense ... Read more >>

J Hum Genet (Journal of human genetics)
[2016, 61(8):761-764]

Cited: 3 times

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

Jillian P Casey, Kieran Brennan, Noemie Scheidel, Paul McGettigan, Paul T Lavin, Stephen Carter, Sean Ennis, Huw Dorkins, Neeti Ghali, Oliver E Blacque, Margaret M Mc Gee, Helen Murphy, Sally Ann Lynch,

Skeletal dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. Whilst >450 skeletal dysplasias have been reported, 30% are genetically uncharacterized. We report two Irish Traveller families with a previously undescribed lethal skeletal dysplasia characterized by fetal akinesia, shortening of all long bones, multiple contractures, rib ... Read more >>

Hum Mol Genet (Human molecular genetics)
[2016, 25(9):1824-1835]

Cited: 12 times

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

Nicholas M Allen, Judith Conroy, Thierry Deonna, Dara McCreary, Paul McGettigan, Cathy Madigan, Imogen Carter, Sean Ennis, Sally A Lynch, Amre Shahwan, Mary D King,

Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of ... Read more >>

Epilepsy Behav Case Rep (Epilepsy & behavior case reports)
[2016, 6:42-48]

Cited: 3 times

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

Nicholas M Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G Correa, Sergio D J Pena, Dara McCreary, Tiago R Magalhães, Sean Ennis, Sally A Lynch, Mary D King,

Early onset epileptic encephalopathies (EOEEs) represent a significant diagnostic challenge. Newer genomic approaches have begun to elucidate an increasing number of responsible single genes as well as emerging diagnostic strategies. In this single-center study, we aimed to investigate a cohort of children with unexplained EOEE. We performed whole-exome sequencing (WES), ... Read more >>

Epilepsia (Epilepsia)
[2016, 57(1):e12-7]

Cited: 51 times

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

Jillian P Casey, Svein I Støve, Catherine McGorrian, Joseph Galvin, Marina Blenski, Aimee Dunne, Sean Ennis, Francesca Brett, Mary D King, Thomas Arnesen, Sally Ann Lynch,

We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including long QT. X-linked inheritance was suspected. Whole exome sequencing identified a novel missense variant (c.128 A > C; p.Tyr43Ser) in NAA10 (X ... Read more >>

Sci Rep (Scientific reports)
[2015, 5:16022]

Cited: 24 times

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

Jillian P Casey, Ellen Crushell, Kyle Thompson, Eilish Twomey, Langping He, Sean Ennis, Roy K Philip, Robert W Taylor, Mary D King, Sally Ann Lynch,

<h4>Background</h4>We report a consanguineous Sudanese family whose two affected sons presented with a lethal disorder characterised by severe neonatal lactic acidosis, hypertonia, microcephaly and intractable seizures. One child had additional unique features of periventricular calcification, abnormal pterins and dry thickened skin.<h4>Methods</h4>Exome enrichment was performed on pooled genomic libraries from the ... Read more >>

JIMD Rep (JIMD reports)
[2016, 26:13-19]

Cited: 3 times

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

Ebrahim Afshinnekoo, Cem Meydan, Shanin Chowdhury, Dyala Jaroudi, Collin Boyer, Nick Bernstein, Julia M Maritz, Darryl Reeves, Jorge Gandara, Sagar Chhangawala, Sofia Ahsanuddin, Amber Simmons, Timothy Nessel, Bharathi Sundaresh, Elizabeth Pereira, Ellen Jorgensen, Sergios-Orestis Kolokotronis, Nell Kirchberger, Isaac Garcia, David Gandara, Sean Dhanraj, Tanzina Nawrin, Yogesh Saletore, Noah Alexander, Priyanka Vijay, Elizabeth M Hénaff, Paul Zumbo, Michael Walsh, Gregory D O'Mullan, Scott Tighe, Joel T Dudley, Anya Dunaif, Sean Ennis, Eoghan O'Halloran, Tiago R Magalhaes, Braden Boone, Angela L Jones, Theodore R Muth, Katie Schneider Paolantonio, Elizabeth Alter, Eric E Schadt, Jeanne Garbarino, Robert J Prill, Jane M Carlton, Shawn Levy, Christopher E Mason,

Cell Syst (Cell systems)
[2015, 1(1):97-97.e3]

Cited: 13 times

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