| Perceptions and practices of a Pakistani population regarding cervical cancer screening SZ Imam, F Rehman, MM Zeeshan, B Maqsood, S Asrar, N Fatima, ... Asian Pac J Cancer Prev 9 (1), 42-44, 2008 | 73 | 2008 |
| Emergence and diversification of dengue 2 cosmopolitan genotype in Pakistan, 2011 MA Khan, EM Ellis, HA Tissera, MY Alvi, FF Rahman, F Masud, A Chow, ... PLoS One 8 (3), e56391, 2013 | 66 | 2013 |
| Students’ corner breast cancer screening practices and awareness in women admitted to a Tertiary Care Hospital of Lahore, Pakistan B Maqsood, MM Zeeshan, F Rehman, F Aslam, A Zafar, B Syed, K Qadeer, ... JPMA 59 (418), 2009 | 40 | 2009 |
| Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia M Wiessner, R Maroofian, MY Ni, A Pedroni, JS Müller, R Stucka, C Beetz, ... Brain 144 (5), 1422-1434, 2021 | 28 | 2021 |
| Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome L Pottie, CS Adamo, A Beyens, S Lütke, P Tapaneeyaphan, A De Clercq, ... The American Journal of Human Genetics 108 (6), 1095-1114, 2021 | 27 | 2021 |
| Bi-allelic variants in the GPI transamidase subunit PIGK cause a neurodevelopmental syndrome with hypotonia, cerebellar atrophy, and epilepsy TTM Nguyen, Y Murakami, S Mobilio, M Niceta, G Zampino, C Philippe, ... The American Journal of Human Genetics 106 (4), 484-495, 2020 | 26 | 2020 |
| Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism EM Padhi, TJ Hayeck, Z Cheng, S Chatterjee, BJ Mannion, ... Human genomics 15, 1-15, 2021 | 21 | 2021 |
| MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia L Meng, P Isohanni, Y Shao, BH Graham, SE Hickey, S Brooks, ... Annals of neurology 89 (4), 828-833, 2021 | 17 | 2021 |
| Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies M Iqbal, R Maroofian, B Çavdarlı, F Riccardi, M Field, S Banka, ... Genetics in Medicine 23 (11), 2138-2149, 2021 | 13 | 2021 |
| Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features MS Zaki, A Accogli, G Mirzaa, F Rahman, H Mohammed, ... European Journal of Human Genetics 29 (8), 1226-1234, 2021 | 11 | 2021 |
| Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome P De Nittis, S Efthymiou, A Sarre, N Guex, J Chrast, A Putoux, T Sultan, ... Journal of medical genetics 58 (12), 815-831, 2021 | 7 | 2021 |
| Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features S Efthymiou, I Herman, F Rahman, N Anwar, R Maroofian, J Yip, T Mitani, ... American Journal of Medical Genetics Part A 185 (7), 2241-2249, 2021 | 6 | 2021 |
| Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders C Gracia-Diaz, Y Zhou, Q Yang, CH Lee, P Espana-Bonilla, S Zhang, ... medRxiv, 2022.08. 09.22278430, 2022 | 1 | 2022 |
| Disability in Pakistan: Challenges and Recommendations: Disability in Pakistan S Maqbool, F Rahman, A Ali, A Farid, W Zahra, E Ullah Pakistan Pediatric Journal 46 (3), 2022 | | 2022 |
| Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome L Pottie, CS Adamo, A Beyens, S Luetke, P Tapaneeyaphan, A De Clercq, ... 54th European Society of Human Genetics (ESHG) Conference 30 (supplement 1 …, 2022 | | 2022 |
| Management of dengue hemorrhagic fever MAK Safia Khan, Fatima Rahman, Yaseen Alvi Pakistan Paediatric Journal 36 (Jul - Sep 2012), 137-41, 2012 | | 2012 |
