Pooja Biswas

Title(s)	SRA 1, Ophthalmology
School	Vc-health Sciences-schools
Address	9500 Gilman Drive # La Jolla CA 92093
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Bibliographic

Publications

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.

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Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. Cold Spring Harb Mol Case Stud. 2022 12; 8(7). Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar J, Pierce EA, Daiger SP, Bujakowska KM, Ayaggari R. PMID: 36376065; PMCID: PMC9808551.

View in: PubMed Mentions: Fields:
Gen Genetics
Translation:Humans
A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype. Genes (Basel). 2022 08 17; 13(8). Biswas P, Berry AM, Zawaydeh Q, Bartsch DG, Raghavendra PB, Hejtmancik JF, Khan NW, Riazuddin SA, Ayyagari R. PMID: 36011372; PMCID: PMC9408336.

View in: PubMed Mentions: Fields:
Gen Genetics
Translation:Humans Animals Cells
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848. Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. PMID: 34662339; PMCID: PMC8589175.

View in: PubMed Mentions: 2 Fields:
Gen Genetics
Translation:Humans
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model. Hum Mutat. 2021 02; 42(2):189-199. Biswas P, Borooah S, Matsui H, Voronchikhina M, Zhou J, Zawaydeh Q, Raghavendra PB, Ferreyra H, Riazuddin SA, Wahlin K, Frazer KA, Ayyagari R. PMID: 33252167; PMCID: PMC7878419.

View in: PubMed Mentions: 2 Fields:
Gen Genetics
Translation:Humans Cells
Whole genome sequencing data of multiple individuals of Pakistani descent. Sci Data. 2020 10 13; 7(1):350. Khan SY, Ali M, Lee MW, Ma Z, Biswas P, Khan AA, Naeem MA, Riazuddin S, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. PMID: 33051442; PMCID: PMC7555865.

View in: PubMed Mentions: 1 Fields:
Sci Science
Translation:Humans
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1. Aging Cell. 2019 12; 18(6):e13011. Chekuri A, Zientara-Rytter K, Soto-Hermida A, Borooah S, Voronchikhina M, Biswas P, Kumar V, Goodsell D, Hayward C, Shaw P, Stanton C, Garland D, Subramani S, Ayyagari R. PMID: 31385385; PMCID: PMC6826137.

View in: PubMed Mentions: 12 Fields:
Cel Cell Biology
Translation:Humans Animals
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration. Ophthalmic Genet. 2018 12; 39(6):763-770. Borooah S, Stanton CM, Marsh J, Carss KJ, Waseem N, Biswas P, Agorogiannis G, Raymond L, Arno G, Webster AR. PMID: 30451557.

View in: PubMed Mentions: 6 Fields:
Gen Genetics Oph Ophthalmology
Translation:Humans
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. Hum Genet. 2018 Jul; 137(6-7):447-458. Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R. PMID: 29978320; PMCID: PMC6150774.

View in: PubMed Mentions: 7 Fields:
Gen Genetics
Translation:Humans Cells
Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology. Open Ophthalmol J. 2018; 12:41-52. Lee BW, Kumar VB, Biswas P, Ko AC, Alameddine RM, Granet DB, Ayyagari R, Kikkawa DO, Korn BS. PMID: 29760827; PMCID: PMC5906971.

View in: PubMed Mentions: 6
Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. Adv Exp Med Biol. 2018; 1074:219-228. Biswas P, Naeem MA, Ali MH, Assir MZ, Khan SN, Riazuddin S, Hejtmancik JF, Riazuddin SA, Ayyagari R. PMID: 29721947.

View in: PubMed Mentions: Fields:
Bio Biology Med Medicine (General)
Translation:Humans Animals Cells
Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Adv Exp Med Biol. 2018; 1074:229-236. Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R. PMID: 29721948.

View in: PubMed Mentions: 1 Fields:
Bio Biology Med Medicine (General)
Translation:Humans
A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum Mol Genet. 2017 12 01; 26(23):4741-4751. 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. PMID: 28973684; PMCID: PMC6075558.

View in: PubMed Mentions: 5 Fields:
Gen Genetics Mol Molecular Biology
Translation:Humans Cells
Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210. Genes (Basel). 2017 10 23; 8(10). Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. PMID: 29065517; PMCID: PMC5664136.

View in: PubMed Mentions: 2 Fields:
Gen Genetics
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic Genet. 2018 Jan-Feb; 39(1):73-79. 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. PMID: 28945494; PMCID: PMC6143363.

View in: PubMed Mentions: 5 Fields:
Gen Genetics Oph Ophthalmology
Translation:Humans
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes (Basel). 2017 08 24; 8(9). Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. PMID: 28837078; PMCID: PMC5615344.

View in: PubMed Mentions: 7 Fields:
Gen Genetics
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. Physiol Genomics. 2017 Apr 01; 49(4):216-229. 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. PMID: 28130426; PMCID: PMC5407181.

View in: PubMed Mentions: 13 Fields:
Mol Molecular Biology
Translation:Humans
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiol Genomics. 2016 12 01; 48(12):922-927. 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. PMID: 27764769; PMCID: PMC5206392.

View in: PubMed Mentions: 16 Fields:
Mol Molecular Biology
Translation:Humans
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016 06 15; 25(12):2483-2497. 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. PMID: 27106100; PMCID: PMC6086560.

View in: PubMed Mentions: 13 Fields:
Gen Genetics Mol Molecular Biology
Translation:Humans Animals Cells
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. PLoS One. 2015; 10(9):e0136561. 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. PMID: 26352687; PMCID: PMC4564165.

View in: PubMed Mentions: 21 Fields:
Med Medicine (General)Sci Science
Translation:Humans
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration. Ophthalmic Genet. 2016; 37(1):44-52. 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. PMID: 25007332; PMCID: PMC4289132.

View in: PubMed Mentions: 10 Fields:
Gen Genetics Oph Ophthalmology
Translation:Humans