Pooja Biswas • UCSD Profiles (original) (raw)

  1. De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nat Genet. 2026 Jan; 58(1):169-179. Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barakat TS, Barboni MTS, Bauwens M, Ben-Yosef T, Bernard V, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Bremond-Gignac D, Britten-Jones AC, Bujakowska KM, Burin des Roziers C, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Chadderton N, Charbel Issa P, Coutinho-Santos L, Daiger SP, De Baere E, De Bruyne M, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fenner BJ, Fernández-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Gonzàlez-Duarte R, Goto K, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoefsloot LH, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jensson BO, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Klaver CCW, Knézy K, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leibu R, Leroy BP, Liskova P, Lopez I, López-Rodríguez VRJ, Mahieu Q, Mahroo OA, Manes G, Mansard L, Martín-Gutiérrez MP, Martins N, Mauring L, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Oldak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Ramond F, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Ederra J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stefansson K, Stingl K, Suga A, Sulem P, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Thiadens AAHJ, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, Valleix S, van Aerschot J, van den Born LI, Van Heetvelde M, Verhoeven VJM, Vincent AL, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Lin S, Cremers FPM, Lee W, Ellingford JM, Stanek D, Roosing S, Rivolta C. PMID: 41513982; PMCID: PMC12807869.
    View in: PubMed Mentions: 2 Fields:
    Translation:HumansCells
  2. Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina. bioRxiv. 2025 Apr 02. Yuan Y, Biswas P, Zemke NR, Dang K, Wu Y, D'Antonio M, Xie Y, Yang Q, Dong K, Lau PK, Li D, Seng C, Bartosik W, Buchanan J, Lin L, Lancione R, Wang K, Lee S, Gibbs Z, Ecker J, Frazer K, Wang T, Preissl S, Wang A, Ayyagari R, Ren B. PMID: 39764062; PMCID: PMC11703273.
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  3. Ablation of Htra1 leads to sub-RPE deposits and photoreceptor abnormalities. JCI Insight. 2025 Feb 10; 10(3). Biswas P, Woodard DR, Hollingsworth TJ, Khan NW, Lazaro DR, Berry AM, Dagar M, Pan Y, Garland D, Shaw PX, Oka C, Iwata T, Jablonski MM, Ayyagari R. PMID: 39927462; PMCID: PMC11948579.
    View in: PubMed Mentions: 1 Fields:
    Translation:Animals
  4. De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa. medRxiv. 2025 Jan 06. Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Oldak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Eddera J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stingl K, Suga A, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, van Aerschot J, van den Born LI, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Cremers FPM, Lee W, Ellingford JM, Stanek D, Rivolta C, Roosing S. PMID: 39830270; PMCID: PMC11741465.
    View in: PubMed Mentions: 1
  5. Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants. PLoS One. 2024; 19(10):e0307266. Biswas P, Villanueva A, Krajacich BJ, Moreno J, Zhao J, Berry AM, Lazaro D, Lajoie BR, Kruglyak S, Ayyagari R. PMID: 39365799; PMCID: PMC11457586.
    View in: PubMed Mentions: 2 Fields:
    Translation:Humans
  6. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. Am J Hum Genet. 2024 Sep 05; 111(9):2012-2030. Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. PMID: 39191256; PMCID: PMC11393691.
    View in: PubMed Mentions: 2 Fields:
    Translation:Humans
  7. 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: 1 Fields:
    Translation:Humans
  8. 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.
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    Translation:HumansAnimalsCells
  9. 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: 17 Fields:
    Translation:Humans
  10. 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:
    Translation:HumansCells
  11. 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: 2 Fields:
    Translation:Humans
  12. 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: 16 Fields:
    Translation:HumansAnimals
  13. 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: 9 Fields:
    Translation:Humans
  14. 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: 14 Fields:
    Translation:HumansCells
  15. 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: 11
  16. 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:
    Translation:Humans
  17. 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; PMCID: PMC12123434.
    View in: PubMed Mentions: 1 Fields:
    Translation:HumansAnimalsCells
  18. 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: 10 Fields:
    Translation:HumansCells
  19. 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.
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  20. 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: 7 Fields:
    Translation:Humans
  21. 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: 13 Fields:
  22. 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: 18 Fields:
    Translation:Humans
  23. 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: 22 Fields:
    Translation:Humans
  24. 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: 17 Fields:
    Translation:HumansAnimalsCells
  25. 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: 25 Fields:
    Translation:Humans
  26. 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:
    Translation:Humans

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