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Year Number of Results
2014 1
2015 1
2016 3
2017 5
2018 6
2019 1
2020 2
2021 2
2022 2
2024 0

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20 results

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Page 1
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar J, Pierce EA, Daiger SP, Bujakowska KM, Ayaggari R. Sangermano R, et al. Among authors: biswas p. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006247. doi: 10.1101/mcs.a006247. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36376065 Free PMC article.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
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. Biswas P, et al. PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct. PLoS Genet. 2021. PMID: 34662339 Free PMC article.
Whole genome sequencing data of multiple individuals of Pakistani descent.
Khan SY, Ali M, Lee MW, Ma Z, Biswas P, Khan AA, Naeem MA, Riazuddin S, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Among authors: biswas p. Sci Data. 2020 Oct 13;7(1):350. doi: 10.1038/s41597-020-00664-2. Sci Data. 2020. PMID: 33051442 Free PMC article.
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
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. Chekuri A, et al. Among authors: biswas p. Aging Cell. 2019 Dec;18(6):e13011. doi: 10.1111/acel.13011. Epub 2019 Aug 5. Aging Cell. 2019. PMID: 31385385 Free PMC article.
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
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. Chekuri A, et al. Among authors: biswas p. Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5. Hum Genet. 2018. PMID: 29978320 Free PMC article.
20 results