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Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.

Cremers, F.P.M., den Dunnen, J.T., Ajmal, M., Hussain, A., Preising, M., Daiger, S.T. and Qamar, R. Human Mutation,Vol: 35, Issue: 1, 147-148 (2014).

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang, F., Wang, H., Tuan, H-F., Nguyen, D.H., Sun, V., Keser, V., Bowne, S.J., Sullivan, L.S., Luo, H., Zhao, L., Wang, X., Zaneveld, J.E., Salvo, J.S., , S., Mao, L., Wheaton, D.K., Birch, D.G., Branham, K.E., Heckenlively, J.R., Wen, C., Flagg, K., Ferreyra, H., Khan, A., Ren, H., Wang, K., Lopez, I., Qamar, R., Zenteno, J.C., Ayala-Ramirez,

Common variants at 8q24 confer susceptibility to urothelial bladder cancer in the Pakistani population.

Ali, S.H.B., Younis, M., Bangash, K.S., Rauf, A., Anwar, K., Khurram, R., Khawaja, M.A., Qureshi, A.A., Akhter, S., Azam, M., Kiemeney, L.A. and Qamar, R. Pakistan Journal of Zoology, 45:1501-1509 (2013).

May 18, 2021

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Siddiqi, S., Siddiq, S., Mansoor, A., Oostrik, J., Ahmad, N., Kazmi, S.A.R., Kremer, H., Qamar, R. and Schraders, M. Journal of Human Genetics, 58:819-821 (2013).

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay, D.S., Borman, A.D., Sui, R., van den Born, L.I.I., Berson, E.L., Ocaka, L.A., Davidson, A.E., Heckenlively, J.R., Branham, K., Ren, H., Lopez, I., Maria, M., Azam, M., Henkes, A., Blokland, E., [LCA5 Study Group: Andreasson, S., de Baere, E., Bennett, J., Berger, W., Golovleva, I., Greenberg, J., den Hollander, A.I., Klaver C.W.C., Klevering, B.J., Preising,

May 18, 2021

Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in the Pakistani population.

Micheal, S., Yousaf, S., Khan, M.I., Akhtar, F., Islam, F., Khan, W.A., den Hollander, A.I., Qamar, R. and Ahmed A. Molecular Vision, 19:441-447 (2013).

Author: Admin

Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Common variants at 8q24 confer susceptibility to urothelial bladder cancer in the Pakistani population.

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

The genetic spectrum of Familial Hypercholesterolemia in Pakistan.

Genetic Associations of Psoriasis in a Pakistani Population.

Association of Pro12Ala polymorphism in PPARγ with proliferative diabetic retinopathy.

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.

Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in the Pakistani population.