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Page 1
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Among authors: berry kravis e. Am J Med Genet A. 2025 Jan;197(1):e63872. doi: 10.1002/ajmg.a.63872. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257296
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder JL Jr, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S; Developmental Synaptopathies Consortium. Levy T, et al. J Neurodev Disord. 2024 May 10;16(1):25. doi: 10.1186/s11689-024-09541-0. J Neurodev Disord. 2024. PMID: 38730350 Free PMC article.
Return of genetic research results in 21,532 individuals with autism.
Wright JR, Astrovskaya I, Barns SD, Goler A, Zhou X, Shu C, Snyder LG, Han B; SPARK Consortium; Shen Y, Volfovsky N, Hall JB, Feliciano P, Chung WK. Wright JR, et al. Genet Med. 2024 Oct;26(10):101202. doi: 10.1016/j.gim.2024.101202. Epub 2024 Jun 29. Genet Med. 2024. PMID: 38958063 Free article.
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A; SPARK Consortium; Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK. Feliciano P, et al. NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019. NPJ Genom Med. 2019. PMID: 31452935 Free PMC article.
Short-term and Long-term Stability of the Autism Diagnostic Observation Schedule (ADOS-2) Calibrated Comparison Scores (CCS) and Classification Scores in Youth with Down Syndrome or Fragile X Syndrome with Intellectual Disability.
Thurman AJ, Nunnally AD, Nguyen V, Berry-Kravis E, Sterling A, Edgin J, Hamilton D, Aschkenasy J, Abbeduto L. Thurman AJ, et al. Among authors: berry kravis e. J Autism Dev Disord. 2024 Sep 9. doi: 10.1007/s10803-024-06535-8. Online ahead of print. J Autism Dev Disord. 2024. PMID: 39251531
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis.
van Gool R, Cay M, Ren B, Brodeur K, Golden E, Goodlett B, Yang E, Reilly T, Hastings C, Berry-Kravis EM, Lee PY, Di Biase M, Cropley V, Pantelis C, Velakoulis D, Shinn AK, Al-Hertani W, Walterfang M, Upadhyay J. van Gool R, et al. Among authors: berry kravis em. Brain Behav Immun. 2024 Dec 15;124:376-384. doi: 10.1016/j.bbi.2024.12.024. Online ahead of print. Brain Behav Immun. 2024. PMID: 39689839
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: berry kravis e. Nat Commun. 2024 Nov 12;15(1):9802. doi: 10.1038/s41467-024-54077-5. Nat Commun. 2024. PMID: 39532857 Free PMC article. Review.
Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype.
Fink JJ, Delaney-Busch N, Dawes R, Nanou E, Folts C, Harikrishnan K, Hempel C, Upadhyay H, Nguyen T, Shroff H, Stoppel D, Ryan SJ, Jacques J, Grooms J, Berry-Kravis E, Bear MF, Williams LA, Gerber D, Bunnage M, Furey B, Dempsey GT. Fink JJ, et al. Among authors: berry kravis e. Commun Biol. 2024 Nov 6;7(1):1447. doi: 10.1038/s42003-024-07120-6. Commun Biol. 2024. PMID: 39506078 Free PMC article.
366 results