Null mutations in LTBP2 cause primary congenital glaucoma M Ali, M McKibbin, A Booth, DA Parry, P Jain, SA Riazuddin, ... The American Journal of Human Genetics 84 (5), 664-671, 2009 | 356 | 2009 |
Primary congenital glaucoma localizes to chromosome 14q24. 2-24.3 in two consanguineous Pakistani families S Firasat, SA Riazuddin, JF Hejtmancik, S Riazuddin Molecular vision 14, 1659, 2008 | 56 | 2008 |
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma S Firasat, SA Riazuddin, SN Khan, S Riazuddin Molecular vision 14, 2002, 2008 | 35 | 2008 |
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent B Rauf, B Irum, F Kabir, S Firasat, MA Naeem, SN Khan, T Husnain, ... Human genome variation 3 (1), 1-4, 2016 | 33 | 2016 |
Association of interleukin 10 (IL-10) gene with type 2 diabetes mellitus by single nucleotide polymorphism of its promotor region G/A 1082 S Naz, N Shafique, S Sharif, F Manzoor, SZ Safi, S Firasat, H Kaul Critical Reviews™ in Eukaryotic Gene Expression 30 (4), 2020 | 25 | 2020 |
Advances in endothelial shear stress proteomics S Firasat, M Hecker, L Binder, AR Asif Expert review of proteomics 11 (5), 611-619, 2014 | 19 | 2014 |
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3 … R Afzal, S Firasat, H Kaul, B Ahmed, SN Siddiqui, SN Zafar, M Shahzadi, ... Congenital anomalies 59 (5), 152-161, 2019 | 16 | 2019 |
Prevalence and risk factors associated with intestinal parasitic infections among schoolchildren in Punjab, Pakistan. S Kosar, K Afshan, M Salman, SSR Rizvi, AA Naseem, S Firasat, S Jahan, ... | 16 | 2017 |
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma S Firasat, H Kaul, UA Ashfaq, S Idrees International ophthalmology 38, 807-814, 2018 | 13 | 2018 |
Analysis of Wilson disease mutations in copper binding domain of ATP7B gene B Gul, S Firasat, R Tehreem, T Shan, K Afshan Plos one 17 (6), e0269833, 2022 | 11 | 2022 |
Seroepidemiology of human fascioliasis and its relationship with anti-Fasciola IgG and liver enzymes as biomarkers of pathogenicity K Afshan, S Kabeer, S Firasat, S Jahan, M Qayyum African Health Sciences 20 (1), 208-218, 2020 | 10 | 2020 |
Morphological and Molecular Identification of Paramphistomum epiclitum from Buffaloes in Pakistan I Khan, K Afshan, S Shah, S Akhtar, M Komal, S Firasat Acta Parasitologica 65, 225-236, 2020 | 10 | 2020 |
Molecular confirmation of Dicrocoelium dendriticum in the Himalayan ranges of Pakistan MA Khan, K Afshan, M Nazar, S Firasat, U Chaudhry, ND Sargison Parasitology international 81, 102276, 2021 | 9 | 2021 |
Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations M Shahid, S Firasat, HS Satti, TM Satti, T Ghafoor, I Sharif, K Afshan Congenital Anomalies 60 (1), 32-39, 2020 | 9 | 2020 |
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma R Tehreem, A Arooj, SN Siddiqui, S Naz, K Afshan, S Firasat PloS one 17 (9), e0274335, 2022 | 7 | 2022 |
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families S Firasat, WA Khan, U Sughra, Nousheen, H Kaul, S Naz, B Noreen, ... Molecular Biology Reports 48, 7467-7476, 2021 | 7 | 2021 |
Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24. 3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene. M Shahzadi, S Firasat, H Kaul, K Afshan, R Afzal, S Naz JPMA. The Journal of the Pakistan Medical Association 70 (3), 515-518, 2020 | 7 | 2020 |
Measurement of Ascaris lumbricoides IgG antibody, associated risk factors and identification of serum biochemical parameters as biomarkers of pathogenicity … S Zaman, K Afshan, S Firasat, S Jahan, M Qayyum | 7 | 2018 |
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing R Gul, S Firasat, M Schubert, A Ullah, E Peña, ACB Thuesen, M Hussain, ... Frontiers in Genetics 14, 1128850, 2023 | 6 | 2023 |
Spatial Distribution of Dicrocoelium in the Himalayan Ranges: Potential Impacts of Ecological Niches and Climatic Variables MA Khan, K Afshan, ND Sargison, M Betson, S Firasat, U Chaudhry Acta Parasitologica 68 (1), 91-102, 2023 | 6 | 2023 |