| 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 | 670 | 2011 |
| Towards a comprehensive structural variation map of an individual human genome AW Pang, JR MacDonald, D Pinto, J Wei, MA Rafiq, DF Conrad, H Park, ... Genome biology 11, 1-14, 2010 | 410 | 2010 |
| 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 | 244 | 2012 |
| Genome assembly comparison identifies structural variants in the human genome R Khaja, J Zhang, JR MacDonald, Y He, AM Joseph-George, J Wei, ... Nature genetics 38 (12), 1413-1418, 2006 | 216 | 2006 |
| 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 | 196 | 2018 |
| 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 | 185 | 2009 |
| An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis D Chatterjee, M Fatah, D Akdis, DA Spears, TT Koopmann, K Mittal, ... European heart journal 39 (44), 3932-3944, 2018 | 147 | 2018 |
| 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 | 115 | 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 | 104 | 2011 |
| Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability R Law, T Dixon-Salazar, J Jerber, N Cai, AA Abbasi, MS Zaki, K Mittal, ... The American Journal of Human Genetics 95 (6), 721-728, 2014 | 81 | 2014 |
| Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene A Gul, MJ Hassan, S Mahmood, W Chen, S Rahmani, MI Naseer, ... Neurogenetics 7, 105-110, 2006 | 75 | 2006 |
| Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment I Ahmed, R Buchert, M Zhou, X Jiao, K Mittal, TI Sheikh, U Scheller, ... Human molecular genetics 24 (11), 3172-3180, 2015 | 59 | 2015 |
| Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy JD Roberts, NP Murphy, RM Hamilton, ER Lubbers, CA James, CF Kline, ... The Journal of Clinical Investigation 129 (8), 3171-3184, 2019 | 58 | 2019 |
| A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability MA Khan, MA Rafiq, A Noor, N Ali, G Ali, JB Vincent, M Ansar BMC medical genetics 12, 1-7, 2011 | 49 | 2011 |
| Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability M Bernkopf, G Webersinke, C Tongsook, CN Koyani, MA Rafiq, M Ayaz, ... Human molecular genetics 23 (15), 4015-4023, 2014 | 48 | 2014 |
| Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability A Heidari, C Tongsook, R Najafipour, L Musante, N Vasli, M Garshasbi, ... Human molecular genetics 24 (20), 5697-5710, 2015 | 45 | 2015 |
| A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis MA Rafiq, M Ansar, S Mahmood, S Haque, M Faiyaz-ul-Haque, SM Leal, ... The Journal of investigative dermatology 123 (1), 247, 2004 | 45 | 2004 |
| Estrogen shields women from COVID-19 complications by reducing ER stress S Shabbir, A Hafeez, MA Rafiq, MJ Khan Medical Hypotheses 143, 110148, 2020 | 37 | 2020 |
| Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family A Mir, K Sritharan, K Mittal, N Vasli, C Araujo, T Jamil, MA Rafiq, Z Anwar, ... Human genetics 133, 975-984, 2014 | 35 | 2014 |
| Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan MA Rafiq, M Ansar, CR Marshall, A Noor, N Shaheen, A Mowjoodi, ... Clinical genetics 78 (5), 478-483, 2010 | 35 | 2010 |
John VincentCentre for Addiction & Mental Health, Toronto, CanadaAdresse e-mail validée de camh.ca