| 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 | 653 | 2011 |
| WDR62 is associated with the spindle pole and is mutated in human microcephaly AK Nicholas, M Khurshid, J Désir, OP Carvalho, JJ Cox, G Thornton, ... Nature genetics 42 (11), 1010-1014, 2010 | 352 | 2010 |
| Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ... Nature genetics 44 (11), 1265-1271, 2012 | 256 | 2012 |
| 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 | 230 | 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 | 182 | 2018 |
| Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35 RWJ Collin, E Kalay, M Tariq, T Peters, B van der Zwaag, H Venselaar, ... The American Journal of Human Genetics 82 (1), 125-138, 2008 | 134 | 2008 |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ... The American Journal of Human Genetics 88 (2), 127-137, 2011 | 129 | 2011 |
| Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39 JM Schultz, SN Khan, ZM Ahmed, S Riazuddin, AM Waryah, D Chhatre, ... The American Journal of Human Genetics 85 (1), 25-39, 2009 | 122 | 2009 |
| Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74 ZM Ahmed, R Yousaf, BC Lee, SN Khan, S Lee, K Lee, T Husnain, ... The American Journal of Human Genetics 88 (1), 19-29, 2011 | 118 | 2011 |
| 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 |
| High frequency shoot regeneration and Agrobacterium-mediated DNA transfer in Canola (Brassica napus) M Ramzan Khan, H Rashid, M Ansar, Z Chaudry Plant Cell, Tissue and Organ Culture 75, 223-231, 2003 | 98 | 2003 |
| Mutation of ATF6 causes autosomal recessive achromatopsia M Ansar, RLP Santos-Cortez, MAN Saqib, F Zulfiqar, K Lee, NM Ashraf, ... Human Genetics 134, 941-950, 2015 | 83 | 2015 |
| 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 |
| A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family MA Khan, VM Rupp, M Orpinell, MS Hussain, J Altmüller, MO Steinmetz, ... Human molecular genetics 23 (22), 5940-5949, 2014 | 79 | 2014 |
| Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment M Schraders, K Lee, J Oostrik, PLM Huygen, G Ali, LH Hoefsloot, ... The American Journal of Human Genetics 86 (2), 138-147, 2010 | 75 | 2010 |
| 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 |
| Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency DB Beck, A Petracovici, C He, HW Moore, RJ Louie, M Ansar, S Douzgou, ... The American Journal of Human Genetics 106 (2), 234-245, 2020 | 70 | 2020 |
| Effect of planting geometry and mulching on moisture conservation, weed control and wheat growth under rainfed conditions ZI Ahmed, M Ansar, M Iqbal, NM Minhas Pakistan Journal of Botany 39 (4), 1189, 2007 | 70 | 2007 |
| Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment RLP Santos, M Wajid, MN Khan, N McArthur, TL Pham, A Bhatti, K Lee, ... Human mutation 26 (4), 396-396, 2005 | 70 | 2005 |
| Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish RLP Santos-Cortez, K Lee, AP Giese, M Ansar, M Amin-Ud-Din, K Rehn, ... Human molecular genetics 23 (12), 3289-3298, 2014 | 64 | 2014 |
