QAU Faculty | Animal Sciences | Dr. Sabika Firasat

Sr #	Publication	IF
1	Firasat, S., Riazuddin, S.A., Khan, S.N. and Riazuddin, S. (2008) Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Mol. Vis. 14: 2002-2009.	2.057
2	Firasat, S., Riazuddin, S.A., Hejtmancik, J.F. and Riazuddin, S. (2008) Primary congenital glaucoma localizes to chromosome 14q24.2-q24.3 in two consanguineous Pakistani families. Mol. Vis. 14: 1659-1665.	2.057
3	Ali, M., McKibbin, M., Booth, A., Parry, D.A., Jain, P., Riazuddin, S.A., Hejtmancik, J.F., Khan, S.N., Firasat, S., Shires, M., Gilmour, D.F., Towns, K., Murphy, A., Azmanov, D., Tournev, I., Cherninkova, S., Jafri, H., Raashid, Y., Toomes, C., Craig, J., Mackey, D.A., Kalaydjieva, L., Riazuddin, S., Inglehearn, C.F. (2009) Null Mutations in LTBP2 Cause Primary Congenital Glaucoma. AJHG.84 (5): 664-671.	9.025
4	Firasat, S., Hecker, M., Binder, L., Asif, A.R. (2014) Advances in endothelial shear stress proteomics. Expert Review of Proteomics. 11: 611-619.	3.849
5	Shakil, M., Ikramullah, M., Hussain, S., Firasat, S., Mahmood, S., Kaul, H. (2016) Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. International Journal of Ophthalmology. 9(5): 794-796.	1.177
6	Rauf, B., Iram, B., Kabir, F., Firasat, S., Naeem, M.A., Khan, S.N., Husnain, T., Riazuddin, S., Akram, J and Riazuddin, S.A. (2016) A spectrum of CYP1B1 mutations associated with primary congenital glaucoma families of Pakistani descent. Human Genome Variation. 4;3:16021.	N.A
7	Kosar, S., Afshan, K., Salman, M., Rizvi, S.S.R., Naseem, A.A., Firasat, S., Jahan, S., Miller, J.E. and Qayyum, M (2017) Prevalence and risk factors associated with intestinal parasitic infections among schoolchildren in Punjab,Pakistan. Tropical Biomedicine 34(4): 770–780.	0.9
8	Zaman, S., Afshan, K., Firasat, S., Jahan, S.and Qayyum, M. (2018) Measurement of Ascaris lumbricoides IgG antibody,associated risk factors and identification of serum biochemical parameters as biomarkers of pathogenicity: among patients with gastrointestinal complains in Pakistan. Tropical Biomedicine 35(1): 1–16.	0.9
9	Firasat, S., Kaul, H., Ashfaq, U.S., Idrees, S. (2018). In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. Int. Ophthalmol. 38(2): 807-814.	1.132
10	Afzal, R., Firasat, S., Kaul, H., Ahmed, B., Siddiqui, S.N., Zafar, S.N., Shahzadi, M., Afshan, K. (2018). Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3’ splice acceptor site of intron 2. Congenital Anomalies. https://doi.org/10.1111/cga.12312	1.149
11	Shahid, M., Firasat, S., Satti, H.S., Satti, T.M., Ghafoor, T., Sharif, I., Afshan, K. (2019). Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations. Congenital Anomalies. https://doi.org/10.1111/cga.12331	1.149

Conference Presentations (Oral):

1. S. Firasat, Rabia Afzal, Haiba Kaul, Bashir Ahmed, Kiran Afshan. (2018) Molecular Characterization of CYP1B1 Gene in Pakistani Primary Congenital Glaucoma Patients: Identification of Five Known and a Novel Point Mutation at 3’ Splice Acceptor Site of intron 2. Proceedings of International Agricultural, Biological and Life Science (AGBIOL) Conference. Held on 2-5th September, 2018 at Trakya University, Edirne, Turkey.

2. M. Shahid, S. Firasat. (2018) Identification of mutations in selected exons of FANCA gene in a cohort of Pakistani FA patients. Proceedings of 3^rd International Conference on Biosciences (ICBS). Held on 9-11^th May, 2018 at Government College University, Lahore. Pakistan.

1. D. Ziegler, S. Khaliq, S. Firasat, K. Pantakani, L. Binder, A. Asif. (2015) Novel mutations in Pakistani population in the major Fanconi anemia gene “FANCA” Congress of Clinical Chemistry and Laboratory Medicine (CCLM).Volume 53, Issue 11, Pages eA93–eA175, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621.

Conference Presentations (Poster):

S. Firasat, R. Afzal, H. Kaul, B. Ahmed. (2018) Analysis of the CYP1B1 gene in primary congenital glaucoma cases from Pakistan: Identification of a novel 3’ splice acceptor site mutation. Laboratory Medicine Congress and Exhibition (LMCE) & Korean Society of Laboratory Medicine (KSLM) 59^th annual meeting, Seoul, South Korea. November 2018.

H. Kaul, S. Firasat, S. Naz. (2018). Molecular and genetic basis of inherited eye diseases in consanguineous Pakistani families. Laboratory Medicine Congress and Exhibition (LMCE) & Korean Society of Laboratory Medicine (KSLM) 59^th annual meeting, Seoul, South Korea. November 2018.

N. Noor, S. Firasat. (2018) Molecular analysis of obstetric cholestasis patients presented at Holy Family hospital, Rawalpindi. Poster session linking patient outcomes to education and training. Association for Excellence in Medical Education (AEME) Conference, Islamabad, Pakistan. March 2018.

N. Ramzan, H. Kaul, M. Dawood, A. Javid, S. Mumtaz, M. Asim, S. Firasat, K. Afshan. (2018) Identification of PIT1 gene polymorphism and its association with milk composition in Holstein and Sahiwal Cattle. Poster session International conference on Omics for Animal Sciences: Opportunities and Challenges. Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan. Feburary 2018.