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

Year Number of Results
1980 2
1983 2
1984 1
1987 2
1988 1
1989 1
1990 1
1991 2
1993 1
1994 4
1995 2
1996 1
1997 2
1998 1
1999 4
2000 3
2001 3
2002 5
2003 6
2004 5
2005 1
2006 3
2007 1
2008 4
2009 1
2010 2
2011 3
2012 1
2013 1
2014 2
2015 4
2016 6
2017 9
2018 5
2019 12
2020 4
2021 6
2022 3
2023 1
2024 1

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111 results

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Page 1
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Kim J, et al. Among authors: waisbren se. N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. N Engl J Med. 2019. PMID: 31597037 Free PMC article.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: waisbren se. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Developmental Support for Infants With Genetic Disorders.
Wojcik MH, Stewart JE, Waisbren SE, Litt JS. Wojcik MH, et al. Among authors: waisbren se. Pediatrics. 2020 May;145(5):e20190629. doi: 10.1542/peds.2019-0629. Pediatrics. 2020. PMID: 32327449 Free PMC article. Review.
Reinstitution of pegvaliase therapy during lactation.
Rohr F, Wessel A, Harding CO, Waisbren SE, Viau K, Kritzer A. Rohr F, et al. Among authors: waisbren se. Mol Genet Metab Rep. 2022 Nov 17;33:100938. doi: 10.1016/j.ymgmr.2022.100938. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36420422 Free PMC article.
Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup.
Waisbren SE, Christ SE, Bilder DA, Bjoraker KJ, Bolton S, Chamberlin S, Grant ML, Janzen DM, Katz R, Lubliner E, Martin A, McQueen K, Moshkovich O, Nguyen-Driver M, Shim S, Stefanatos AK, Wilkening G, Harding C. Waisbren SE, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108555. doi: 10.1016/j.ymgme.2024.108555. Epub 2024 Jul 25. Mol Genet Metab. 2024. PMID: 39089209 No abstract available.
Cognitive functioning in mild hyperphenylalaninemia.
de la Parra A, García MI, Waisbren SE, Cornejo V, Raimann E. de la Parra A, et al. Among authors: waisbren se. Mol Genet Metab Rep. 2015 Oct 29;5:72-75. doi: 10.1016/j.ymgmr.2015.10.009. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649547 Free PMC article.
Revising the Psychiatric Phenotype of Homocystinuria.
Almuqbil MA, Waisbren SE, Levy HL, Picker JD. Almuqbil MA, et al. Among authors: waisbren se. Genet Med. 2019 Aug;21(8):1827-1831. doi: 10.1038/s41436-018-0419-4. Epub 2019 Jan 15. Genet Med. 2019. PMID: 30643218 Free article.
111 results