Publications by authors named "Judith Conroy"

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HLA-DQA1*05 Allele Carriage and Anti-TNF Therapy Persistence in Inflammatory Bowel Disease.
Jayne Doherty, Anthony W Ryan, Emma Quinn, Judith Conroy, Jackie Dolan

Inflamm Bowel Dis· April 2025

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Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.
Jedd Pratt, Laura Whitton, Anthony Ryan, Thorhildur Juliusdottir, Jackie Dolan, Judith Conroy

Geroscience· June 2023

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Plasma C-Terminal Agrin Fragment as an Early Biomarker for Sarcopenia: Results From the GenoFit Study.
Jedd Pratt, Giuseppe De Vito, Marco Narici, Ricardo Segurado, Ludmilla Pessanha, Judith Conroy

J Gerontol A Biol Sci Med Sci· November 2021

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Grip strength performance from 9431 participants of the GenoFit study: normative data and associated factors.
Jedd Pratt, Giuseppe De Vito, Marco Narici, Ricardo Segurado, Jackie Dolan, Judith Conroy

Geroscience· October 2021

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Expansion of the phenotype of biallelic variants in TRIT1.
Karina M Forde, Ben Molloy, Judith Conroy, Andrew J Green, Mary D King

Eur J Med Genet· June 2020

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Evaluating the ability of citizen scientists to identify bumblebee (Bombus) species.
Steven Falk, Gemma Foster, Richard Comont, Judith Conroy, Helen Bostock

PLoS One· February 2020

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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

Arch Dis Child· March 2018

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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Judith Conroy

Brain· September 2017

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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

Epilepsia· July 2017

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Symmetrical thalamic calcification: A trio whole exome sequencing negative series.
Kathleen Mary Gorman, John James Aird, Judith Conroy, Deirdre Devaney, Michael Farrell

Brain Dev· May 2017

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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

J Hum Genet· August 2016

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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

Epilepsy Behav Case Rep· August 2016

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Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.
Ciara Coleman, Emma M Quinn, Anthony W Ryan, Judith Conroy, Valerie Trimble

Eur J Hum Genet· February 2016

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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

Epilepsia· January 2016

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Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.
Nicholas M Allen, Judith Conroy, Amre Shahwan, Sean Ennis, Bryan Lynch

Eur J Paediatr Neurol· July 2015

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The variable phenotypes of KCNQ-related epilepsy.
Nicholas M Allen, Maria Mannion, Judith Conroy, Sally A Lynch, Amre Shahwan

Epilepsia· September 2014

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Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.
Nicholas M Allen, Judith Conroy, Amre Shahwan, Sean Ennis, Bryan Lynch

Am J Med Genet A· July 2014

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Towards the identification of a genetic basis for Landau-Kleffner syndrome.
Judith Conroy, Paul A McGettigan, Dara McCreary, Naisha Shah, Kevin Collins

Epilepsia· June 2014

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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
Fernando Gómez-Herreros, Janneke H M Schuurs-Hoeijmakers, Mark McCormack, Marie T Greally, Stuart Rulten, Judith Conroy

Nat Genet· May 2014

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Judith Conroy

Am J Hum Genet· May 2014

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A novel locus for episodic ataxia:UBR4 the likely candidate.
Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy

Eur J Hum Genet· April 2014

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A study of alveolar rhabdomyosarcoma copy number alterations by single nucleotide polymorphism analysis.
Miriam Lynn, Naisha Shah, Judith Conroy, Sean Ennis, Thomas Morris

Appl Immunohistochem Mol Morphol· March 2014

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A genome-wide association study of recipient genotype and medium-term kidney allograft function.
Robert P O'Brien, Paul J Phelan, Judith Conroy, Patrick O'Kelly, Andrew Green, Ronan Conroy

Clin Transplant· January 2014

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High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcoma.
Miriam Lynn, Yuexiang Wang, Jaime Slater, Naisha Shah, Judith Conroy

Diagn Mol Pathol· June 2013

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HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships.
Tiago R Magalhães, Jillian P Casey, Judith Conroy, Regina Regan, Darren J Fitzpatrick

PLoS One· May 2013

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