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210 results

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A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.
Kim-McManus O, Gleeson JG, Mignon L, Smith Fine A, Yan W, Nolen N, Demarest S, Berry-Kravis E, Finkel R, Leonard S, Finlayson S, Augustine E, Lyon GJ, Schule R, Yu T. Kim-McManus O, et al. Among authors: demarest s. Nat Commun. 2024 Nov 12;15(1):9802. doi: 10.1038/s41467-024-54077-5. Nat Commun. 2024. PMID: 39532857 Free PMC article. Review.
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.
Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Santucci K, et al. Among authors: demarest s. Clin Genet. 2024 Oct 10. doi: 10.1111/cge.14626. Online ahead of print. Clin Genet. 2024. PMID: 39390634
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. Haviland I, et al. Among authors: demarest s. Am J Med Genet A. 2025 Jan;197(1):e63843. doi: 10.1002/ajmg.a.63843. Epub 2024 Aug 28. Am J Med Genet A. 2025. PMID: 39205479
Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder.
Saldaris JM, Jacoby P, Downs J, Marsh ED, Leonard H, Pestana-Knight E, Rajaraman R, Weisenberg J, Suter B, Olson HE, Price D, Hong W, Prange E, Benke TA, Demarest S. Saldaris JM, et al. Among authors: demarest s. Epilepsia. 2024 Oct;65(10):3064-3075. doi: 10.1111/epi.18094. Epub 2024 Aug 27. Epilepsia. 2024. PMID: 39190322
Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review.
Saldaris JM, Ayalde J, Kankanange S, Keeley J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest ST, Downs J. Saldaris JM, et al. Among authors: demarest st. Int J Lang Commun Disord. 2024 Nov-Dec;59(6):2528-2553. doi: 10.1111/1460-6984.13100. Epub 2024 Aug 14. Int J Lang Commun Disord. 2024. PMID: 39141588 Free PMC article. Review.
210 results