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exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
Maranhao B, Biswas P, Duncan JL, Branham KE, Silva GA, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Heckenlively JR, Riazuddin SA, Lee PL, Ayyagari R. Maranhao B, et al. Among authors: biswas p. Genomics. 2014 Feb-Mar;103(2-3):169-76. doi: 10.1016/j.ygeno.2014.02.006. Epub 2014 Mar 3. Genomics. 2014. PMID: 24603341 Free PMC article. Clinical Trial.
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
Duncan JL, Biswas P, Kozak I, Navani M, Syed R, Soudry S, Menghini M, Caruso RC, Jeffrey BG, Heckenlively JR, Reddy GB, Lee P, Roorda A, Ayyagari R. Duncan JL, et al. Among authors: biswas p. Ophthalmic Genet. 2016;37(1):44-52. doi: 10.3109/13816810.2014.929716. Epub 2014 Jul 9. Ophthalmic Genet. 2016. PMID: 25007332 Free PMC article.
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
Maranhao B, Biswas P, Gottsch AD, Navani M, Naeem MA, Suk J, Chu J, Khan SN, Poleman R, Akram J, Riazuddin S, Lee P, Riazuddin SA, Hejtmancik JF, Ayyagari R. Maranhao B, et al. Among authors: biswas p. PLoS One. 2015 Sep 9;10(9):e0136561. doi: 10.1371/journal.pone.0136561. eCollection 2015. PLoS One. 2015. PMID: 26352687 Free PMC article.
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Nariai N, Heckenlively JR, Frazer KA, Sieving PA, Ayyagari R. Branham K, et al. Among authors: biswas p. Physiol Genomics. 2016 Dec 1;48(12):922-927. doi: 10.1152/physiolgenomics.00101.2016. Epub 2016 Oct 7. Physiol Genomics. 2016. PMID: 27764769 Free PMC article.
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R. Biswas P, et al. Physiol Genomics. 2017 Apr 1;49(4):216-229. doi: 10.1152/physiolgenomics.00096.2016. Epub 2017 Jan 27. Physiol Genomics. 2017. PMID: 28130426 Free PMC article.
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Villanueva A, Biswas P, Kishaba K, Suk J, Tadimeti K, Raghavendra PB, Nadeau K, Lamontagne B, Busque L, Geoffroy S, Mongrain I, Asselin G, Provost S, Dubé MP, Nudleman E, Ayyagari R. Villanueva A, et al. Among authors: biswas p. Ophthalmic Genet. 2018 Jan-Feb;39(1):73-79. doi: 10.1080/13816810.2017.1373830. Epub 2017 Sep 25. Ophthalmic Genet. 2018. PMID: 28945494 Free PMC article.
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R. Biswas P, et al. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356. Hum Mol Genet. 2017. PMID: 28973684 Free PMC article.
1,204 results