| 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 | 2311 | 2010 |
| Structural variation of chromosomes in autism spectrum disorder CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ... The American Journal of Human Genetics 82 (2), 477-488, 2008 | 2126 | 2008 |
| 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 | 718 | 2010 |
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways L Sang, JJ Miller, KC Corbit, RH Giles, MJ Brauer, EA Otto, LM Baye, ... Cell 145 (4), 513-528, 2011 | 648 | 2011 |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability A Noor, A Whibley, CR Marshall, PJ Gianakopoulos, A Piton, AR Carson, ... Science translational medicine 2 (49), 49ra68-49ra68, 2010 | 248 | 2010 |
| Peptidyl argininedeiminase 2 CpG island in multiple sclerosis white matter is hypomethylated FG Mastronardi, A Noor, DD Wood, T Paton, MA Moscarello Journal of neuroscience research 85 (9), 2006-2016, 2007 | 229 | 2007 |
| Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability MA Khan, MA Rafiq, A Noor, S Hussain, JV Flores, V Rupp, AK Vincent, ... The American Journal of Human Genetics 90 (5), 856-863, 2012 | 228 | 2012 |
| Identification of mutations in TRAPPC9, which encodes the NIK-and IKK-β-binding protein, in nonsyndromic autosomal-recessive mental retardation A Mir, L Kaufman, A Noor, MM Motazacker, T Jamil, M Azam, K Kahrizi, ... The American Journal of Human Genetics 85 (6), 909-915, 2009 | 179 | 2009 |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 176 | 2014 |
| Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families R Harripaul, N Vasli, A Mikhailov, MA Rafiq, K Mittal, C Windpassinger, ... Molecular psychiatry 23 (4), 973-984, 2018 | 174 | 2018 |
| An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1 C Windpassinger, B Schoser, V Straub, S Hochmeister, A Noor, ... The American Journal of Human Genetics 82 (1), 88-99, 2008 | 173 | 2008 |
| Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1 W Xu, S Cohen-Woods, Q Chen, A Noor, J Knight, G Hosang, SV Parikh, ... BMC medical genetics 15, 1-13, 2014 | 146 | 2014 |
| CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa A Noor, C Windpassinger, M Patel, B Stachowiak, A Mikhailov, M Azam, ... The American Journal of Human Genetics 82 (4), 1011-1018, 2008 | 118 | 2008 |
| Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families G Egger, KM Roetzer, A Noor, AC Lionel, H Mahmood, T Schwarzbraun, ... neurogenetics 15, 117-127, 2014 | 115 | 2014 |
| Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-β binding protein 3 A Noor, C Windpassinger, I Vitcu, M Orlic, MA Rafiq, M Khalid, MN Malik, ... The American Journal of Human Genetics 84 (4), 519-523, 2009 | 111 | 2009 |
| Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability MA Rafiq, AW Kuss, L Puettmann, A Noor, A Ramiah, G Ali, H Hu, ... The American Journal of Human Genetics 89 (1), 176-182, 2011 | 98 | 2011 |
| Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder A Chaudhry, A Noor, B Degagne, K Baker, LA Bok, AF Brady, D Chitayat, ... Clinical genetics 88 (3), 224-233, 2015 | 90 | 2015 |
| Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes A Noor, AC Lionel, S Cohen‐Woods, N Moghimi, J Rucker, A Fennell, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165 …, 2014 | 89 | 2014 |
| 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes A Noor, L Dupuis, K Mittal, AC Lionel, CR Marshall, SW Scherer, ... Human mutation 36 (7), 689-693, 2015 | 81 | 2015 |
| Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder MT Carter, SM Nikkel, BA Fernandez, CR Marshall, A Noor, AC Lionel, ... Clinical genetics 80 (5), 435-443, 2011 | 77 | 2011 |
