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Abdul Noor
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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
21352010
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
19722008
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
6612010
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
5782011
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
2162010
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
2072007
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
1952012
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
1642008
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
1622009
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
1442018
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
1412014
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), 1-13, 2014
1342014
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
1132008
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 (2), 117-127, 2014
1032014
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
962009
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
902011
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
802014
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
722015
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
672015
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
662011
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