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Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, Frazier DM, Gohagan J, Harding C, Howell RR, Regan K, Stacpoole PW, Venditti C, Vockley J, Watson M, Coates PM. Camp KM, et al. Among authors: watson m. Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23. Mol Genet Metab. 2013. PMID: 23806236 Free PMC article.
Carrier testing for spinal muscular atrophy.
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Gitlin JM, et al. Among authors: watson m. Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. Genet Med. 2010. PMID: 20808230 Free PMC article.
Long-term follow-up of newborn screening patients.
Berry SA, Lloyd-Puryear MA, Watson MS. Berry SA, et al. Genet Med. 2010 Dec;12(12 Suppl):S267-8. doi: 10.1097/GIM.0b013e3181fea476. Genet Med. 2010. PMID: 21150374 Free article.
Including ELSI research questions in newborn screening pilot studies.
Goldenberg AJ, Lloyd-Puryear M, Brosco JP, Therrell B, Bush L, Berry S, Brower A, Bonhomme N, Bowdish B, Chrysler D, Clarke A, Crawford T, Goldman E, Hiner S, Howell RR, Orren D, Wilfond BS, Watson M; Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network. Goldenberg AJ, et al. Among authors: watson m. Genet Med. 2019 Mar;21(3):525-533. doi: 10.1038/s41436-018-0101-x. Epub 2018 Aug 13. Genet Med. 2019. PMID: 30100612 Free article.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group. Zastrow DB, et al. Among authors: watson m. Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649. Hum Mutat. 2018. PMID: 30311390 Free PMC article.
3,361 results