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Year Number of Results
2018 1
2019 3
2020 9
2021 10
2022 6
2023 5
2024 4

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29 results

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Page 1
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: dsouza nr. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
FOXK1 regulates Wnt signalling to promote cardiogenesis.
Sierra-Pagan JE, Dsouza N, Das S, Larson TA, Sorensen JR, Ma X, Stan P, Wanberg EJ, Shi X, Garry MG, Gong W, Garry DJ. Sierra-Pagan JE, et al. Among authors: dsouza n. Cardiovasc Res. 2023 Jul 6;119(8):1728-1739. doi: 10.1093/cvr/cvad054. Cardiovasc Res. 2023. PMID: 37036809 Free PMC article.
Reducing donor acceptance practice variation - Learnings from a discussion forum.
Bansal N, Jeewa A, Watanabe K, Richmond ME, Alzubi A, D'Souza N, Bano M, Lorts A, Rosenthal DN, Taylor K, O'Shea C, Smyth L, Koehl D, Zhao H, Hollander SA. Bansal N, et al. Pediatr Transplant. 2024 Feb;28(1):e14635. doi: 10.1111/petr.14635. Epub 2023 Nov 13. Pediatr Transplant. 2024. PMID: 37957127 Review.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Brunet T, et al. Among authors: dsouza nr. Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11. Genet Med. 2021. PMID: 33173220 Free PMC article.
Etv2 regulates enhancer chromatin status to initiate Shh expression in the limb bud.
Koyano-Nakagawa N, Gong W, Das S, Theisen JWM, Swanholm TB, Van Ly D, Dsouza N, Singh BN, Kawakami H, Young S, Chen KQ, Kawakami Y, Garry DJ. Koyano-Nakagawa N, et al. Among authors: dsouza n. Nat Commun. 2022 Jul 21;13(1):4221. doi: 10.1038/s41467-022-31848-6. Nat Commun. 2022. PMID: 35864091 Free PMC article.
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM. Schultz-Rogers L, et al. Among authors: dsouza nr. Haematologica. 2021 Apr 1;106(4):1188-1192. doi: 10.3324/haematol.2020.259275. Haematologica. 2021. PMID: 32646888 Free PMC article. No abstract available.
Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.
Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW. Pinto E Vairo F, et al. Among authors: dsouza nr. Thromb Res. 2020 Nov;195:187-189. doi: 10.1016/j.thromres.2020.07.014. Epub 2020 Jul 9. Thromb Res. 2020. PMID: 32721632 No abstract available.
29 results