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Year Number of Results
2018 1
2019 4
2020 9
2021 10
2022 3
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22 results
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Page 1
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD. Delmonte OM, et al. Among authors: dsouza nr. Blood. 2021 Sep 23;138(12):1019-1033. doi: 10.1182/blood.2020008629. Blood. 2021. PMID: 33876203 Clinical Trial.
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.
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.
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. 2021 Dec 15:jmedgenet-2021-107751. doi: 10.1136/jmedgenet-2021-107751. Online ahead of print. J Med Genet. 2021. PMID: 34930816 Free PMC article.
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R. Chi YI, et al. Among authors: dsouza nr. Orphanet J Rare Dis. 2021 Feb 5;16(1):66. doi: 10.1186/s13023-021-01692-w. Orphanet J Rare Dis. 2021. PMID: 33546721 Free PMC article.
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.
Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. Nichols-Vinueza DX, et al. Among authors: dsouza nr. J Clin Immunol. 2021 Jan;41(1):270-273. doi: 10.1007/s10875-020-00903-6. Epub 2020 Nov 2. J Clin Immunol. 2021. PMID: 33140240 Free PMC article. No abstract available.
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R. Chi YI, et al. Among authors: dsouza nr. Orphanet J Rare Dis. 2021 Jun 1;16(1):247. doi: 10.1186/s13023-021-01892-4. Orphanet J Rare Dis. 2021. PMID: 34074320 Free PMC article. No abstract available.
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.
Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R. Schultz-Rogers L, et al. Among authors: dsouza nr. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004309. doi: 10.1101/mcs.a004309. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604776 Free PMC article.
22 results