Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2319 | 2010 |
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ... The American Journal of Human Genetics 94 (5), 677-694, 2014 | 1066 | 2014 |
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ... Nature genetics 44 (12), 1341, 2012 | 1059 | 2012 |
A genome-wide linkage and association scan reveals novel loci for autism LA Weiss, DE Arking, ... Nature 461 (7265), 802, 2009 | 782 | 2009 |
A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 720 | 2010 |
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ... Nature genetics 49 (7), 978-985, 2017 | 462 | 2017 |
Individual common variants exert weak effects on the risk for autism spectrum disorders R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ... Human molecular genetics 21 (21), 4781-4792, 2012 | 445 | 2012 |
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 Molecular autism 8, 1-17, 2017 | 334 | 2017 |
Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion NM Allen, J Conroy, A Shahwan, B Lynch, RG Correa, SDJ Pena, ... Epilepsia 57 (1), e12-e17, 2016 | 196 | 2016 |
Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism CT Correia, AM Coutinho, AF Sequeira, IG Sousa, L Lourenco Venda, ... Genes, Brain and behavior 9 (7), 841-848, 2010 | 169 | 2010 |
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function F Gómez-Herreros, JHM Schuurs-Hoeijmakers, M McCormack, ... Nature genetics 46 (5), 516, 2014 | 154 | 2014 |
Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies S Masnada, UBS Hedrich, E Gardella, J Schubert, C Kaiwar, EW Klee, ... Brain 140 (9), 2337-2354, 2017 | 137 | 2017 |
Serotonin transporter gene and autism: a haplotype analysis in an Irish autistic population J Conroy, E Meally, G Kearney, M Fitzgerald, M Gill, L Gallagher Molecular psychiatry 9 (6), 587-593, 2004 | 133 | 2004 |
Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31 R Segurado, J Conroy, E Meally, M Fitzgerald, M Gill, L Gallagher American Journal of Psychiatry 162 (11), 2182-2184, 2005 | 126 | 2005 |
Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder Z Hawi, R Segurado, J Conroy, K Sheehan, N Lowe, A Kirley, D Shields, ... The American Journal of Human Genetics 77 (6), 958-965, 2005 | 114 | 2005 |
Identification of a mutation in LARS as a novel cause of infantile hepatopathy JP Casey, P McGettigan, N Lynam-Lennon, M McDermott, R Regan, ... Molecular genetics and metabolism 106 (3), 351-358, 2012 | 105 | 2012 |
Association analysis of the monoamine oxidase A and B genes with attention deficit hyperactivity disorder (ADHD) in an Irish sample: Preferential transmission of the MAO‐A 941G … K Domschke, K Sheehan, N Lowe, A Kirley, C Mullins, R O'sullivan, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 134 …, 2005 | 104 | 2005 |
The variable phenotypes of KCNQ‐related epilepsy NM Allen, M Mannion, J Conroy, SA Lynch, A Shahwan, B Lynch, ... Epilepsia 55 (9), e99-e105, 2014 | 102 | 2014 |
Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms J Balding, WJ Livingstone, J Conroy, L Mynett-Johnson, DG Weir, ... Mediators of inflammation 13, 1970 | 101 | 1970 |
A novel locus for episodic ataxia: UBR4 the likely candidate J Conroy, P McGettigan, R Murphy, D Webb, SM Murphy, B McCoy, ... European Journal of Human Genetics 22 (4), 505-510, 2014 | 84 | 2014 |