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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 5
2004 2
2005 5
2006 6
2007 6
2008 3
2009 12
2010 22
2011 10
2012 11
2013 7
2014 19
2015 10
2016 12
2017 12
2018 11
2019 12
2020 11
2021 11
2022 14
2023 7
2024 8
2025 15
2026 7

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202 results

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Page 1
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684 Free PMC article.
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.
Germain DP, Al-Jasmi F, Altarescu G, Azevedo O, Barreto FC, Burlina AP, Ezgü F, Laney DA, Linhart A, Maski M, Moiseev S, Niu DM, Nochioka K, Ouyang Y, Onay H, Pavlou M, Pachter N, Politei J, Rawda S, Steeds RP, Tuttolomondo A, Yu WC, West ML, Berger KI, Maksimova I. Germain DP, et al. Among authors: niu dm. Genet Med Open. 2025 Dec 2;4:103481. doi: 10.1016/j.gimo.2025.103481. eCollection 2026. Genet Med Open. 2025. PMID: 41551006 Free PMC article. No abstract available.
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
Bichet DG, Hopkin RJ, Aguiar P, Allam SR, Chien YH, Giugliani R, Kallish S, Kineen S, Lidove O, Niu DM, Olivotto I, Politei J, Rakoski P, Torra R, Tøndel C, Hughes DA. Bichet DG, et al. Among authors: niu dm. Front Med (Lausanne). 2023 Sep 1;10:1220637. doi: 10.3389/fmed.2023.1220637. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37727761 Free PMC article.
Response to Juang et al.
Hsu CL, Dzhagalov IL, Niu DM. Hsu CL, et al. Among authors: niu dm. Genet Med. 2019 Aug;21(8):1892-1893. doi: 10.1038/s41436-019-0437-x. Epub 2019 Jan 22. Genet Med. 2019. PMID: 30666049 Free article. No abstract available.
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.
Downie L, Yeo J, Minten T, Heald R, Ansel D, Baker M, Balciuniene J, Berg JS, Boemer F, Chung WK, Cope HL, Eckstein DJ, Encina N, Faivre L, Ferlini A, García-Villoria J, Gelb MH, González De Aledo-Castillo JM, Golden-Grant K, Parad RB, Shah N, Stark Z, Sund KL, Tsipouras P, To M, Bick D, Green RC; International Consortium on Newborn Sequencing; Gold NB. Downie L, et al. Genet Med. 2026 Jan;28(1):101618. doi: 10.1016/j.gim.2025.101618. Epub 2025 Oct 24. Genet Med. 2026. PMID: 41765866 Free article.
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.
Ramaswami U, Pintos-Morell G, Kampmann C, Nicholls K, Niu DM, Reisin R, West ML, Anagnostopoulou C, Botha J, Jazukeviciene D, Schenk J, Hughes DA, Giugliani R. Ramaswami U, et al. Among authors: niu dm. Mol Genet Metab Rep. 2025 Apr 11;43:101215. doi: 10.1016/j.ymgmr.2025.101215. eCollection 2025 Jun. Mol Genet Metab Rep. 2025. PMID: 40276560 Free PMC article.
202 results