Publications – Raheel Qamar

May 18, 2021

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Agha, Z., Iqbal, Z., Azam, M., Siddique, M., Willemse, M.H., Kleefstra, T., Zweier, C., de Leeuw, N., Qamar, R. and van Bokhoven, H. Gene, 538:30-35: (2014).

The molecular basis of retinal dystrophies in Pakistan.

Khan, M.I., Azam, M., Ajmal, M., H., Collin, R.W.J., den Hollander, A.I., Cremers, F.P.M. and Qamar, R. Genes, (2014) doi:10.3390/genes50x000x

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

Category: Publications

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

The molecular basis of retinal dystrophies in Pakistan.

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.