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 | 657 | 2011 |
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 | 232 | 2012 |
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 | 185 | 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 | 181 | 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 | 138 | 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 | 110 | 2009 |
Milk production potential of the dromedary, with special reference to the province of Punjab, Pakistan. KH Knoess, AJ Makhudum, M Rafiq, M Hafeez | 108 | 1986 |
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 | 99 | 2011 |
Screening of Wheat (Triticum aestivum L.) Genotypes for Drought Tolerance through Agronomic and Physiological Response A Ahmad, Z Aslam, T Javed, S Hussain, A Raza, R Shabbir, ... Agronomy 12 (2), 287, 2022 | 85 | 2022 |
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 | 80 | 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 |
Thermophysical Analysis of Water Based (Cu–Al2O3) Hybrid Nanofluid in an Asymmetric Channel with Dilating/Squeezing Walls Considering Different Shapes of … F Saba, N Ahmed, U Khan, A Waheed, M Rafiq, ST Mohyud-Din Applied Sciences 8 (9), 1549, 2018 | 73 | 2018 |
On forgotten topological indices of some dendrimers structure Y Bashir, A Aslam, M Kamran, MI Qureshi, A Jahangir, M Rafiq, N Bibi, ... Molecules 22 (6), 867, 2017 | 65 | 2017 |
Seed Priming with Sorghum Water Extract Improves the Performance of Camelina (Camelina sativa (L.) Crantz.) under Salt Stress P Huang, L He, A Abbas, S Hussain, S Hussain, D Du, MB Hafeez, ... Plants 10 (4), 749, 2021 | 55 | 2021 |
Synthesis, XRD, spectral (IR, UV–Vis, NMR) characterization and quantum chemical exploration of benzoimidazole‐based hydrazones: A synergistic experimental‐computational analysis M Rafiq, M Khalid, MN Tahir, MU Ahmad, MU Khan, MM Naseer, ... Applied Organometallic Chemistry 33 (11), e5182, 2019 | 53 | 2019 |
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 | 53 | 2019 |
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 | 53 | 2015 |
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 | 48 | 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 | 45 | 2014 |
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 | 44 | 2004 |