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Year Number of Results
2014 3
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2016 3
2019 1
2020 1
2021 2
2022 4
2023 1
2024 0

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Page 1
Expanding the phenotype of ATP6AP1 deficiency.
Barua S, Berger S, Pereira EM, Jobanputra V. Barua S, et al. Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006195. doi: 10.1101/mcs.a006195. Print 2022 Jun. Cold Spring Harb Mol Case Stud. 2022. PMID: 35732497 Free PMC article.
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Ganapathi M, Thomas-Wilson A, Buchovecky C, Dharmadhikari A, Barua S, Lee W, Ruan MZC, Soucy M, Ragi S, Tanaka J, Clark LN, Naini AB, Liao J, Mansukhani M, Tsang S, Jobanputra V. Ganapathi M, et al. Among authors: barua s. Sci Rep. 2022 Jun 7;12(1):9358. doi: 10.1038/s41598-022-13026-2. Sci Rep. 2022. PMID: 35672425 Free PMC article.
Targeting SLMAP-ALK-a novel gene fusion in lung adenocarcinoma.
Pagan C, Barua S, Hsiao SJ, Mansukhani M, Saqi A, Murty V, Fernandes H. Pagan C, et al. Among authors: barua s. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003939. doi: 10.1101/mcs.a003939. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 31160357 Free PMC article.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG; DDD Study; TUDP Consortium; Anyane Yeboa K. Kushary ST, et al. Among authors: barua s. Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31. Am J Med Genet A. 2021. PMID: 34331327 Free PMC article.
17 results