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International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.
Downs J, Pichard DC, Kaufmann WE, Horrigan JP, Raspa M, Townend G, Marsh ED, Leonard H, Motil K, Dietz AC, Garg N, Ananth A, Byiers B, Peters S, Beatty C, Symons F, Jacobs A, Youakim J, Suter B, Santosh P, Neul JL, Benke TA. Downs J, et al. Among authors: suter b. Trials. 2024 Dec 21;25(1):845. doi: 10.1186/s13063-024-08678-6. Trials. 2024. PMID: 39709426 Free PMC article.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: suter b. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. Ananth A, et al. Among authors: suter b. Pediatr Neurol. 2024 Dec;161:263-267. doi: 10.1016/j.pediatrneurol.2024.09.022. Epub 2024 Sep 30. Pediatr Neurol. 2024. PMID: 39476560
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.
Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Bajikar SS, et al. Among authors: suter b. Hum Mol Genet. 2024 Nov 8;33(22):1986-2001. doi: 10.1093/hmg/ddae135. Hum Mol Genet. 2024. PMID: 39277796 Free PMC article.
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: suter b. 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
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
Neul JL, Benke TA, Marsh ED, Suter B, Fu C, Ryther RC, Skinner SA, Lieberman DN, Feyma T, Beisang A, Heydemann P, Peters SU, Ananth A, Percy AK. Neul JL, et al. Among authors: suter b. Genes (Basel). 2024 Aug 22;15(8):1107. doi: 10.3390/genes15081107. Genes (Basel). 2024. PMID: 39202466 Free PMC article.
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: suter b. Epilepsia. 2024 Oct;65(10):3064-3075. doi: 10.1111/epi.18094. Epub 2024 Aug 27. Epilepsia. 2024. PMID: 39190322
216 results