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A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Budimirovic DB, Schlageter A, Filipovic-Sadic S, Protic DD, Bram E, Mahone EM, Nicholson K, Culp K, Javanmardi K, Kemppainen J, Hadd A, Sharp K, Adayev T, LaFauci G, Dobkin C, Zhou L, Brown WT, Berry-Kravis E, Kaufmann WE, Latham GJ. Budimirovic DB, et al. Among authors: kaufmann we. Brain Sci. 2020 Sep 30;10(10):694. doi: 10.3390/brainsci10100694. Brain Sci. 2020. PMID: 33008014 Free PMC article.
The behavioral phenotype of FMR1 mutations.
Boyle L, Kaufmann WE. Boyle L, et al. Among authors: kaufmann we. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):469-76. doi: 10.1002/ajmg.c.30277. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981777 Review.
Newborn, carrier, and early childhood screening recommendations for fragile X.
Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. Abrams L, et al. Among authors: kaufmann we. Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Pediatrics. 2012. PMID: 23129072 Review.
Arbaclofen in fragile X syndrome: results of phase 3 trials.
Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann WE, Cherubini M, Zarevics P, Walton-Bowen K, Wang P, Bear MF, Carpenter RL. Berry-Kravis E, et al. Among authors: kaufmann we. J Neurodev Disord. 2017 Jun 12;9:3. doi: 10.1186/s11689-016-9181-6. eCollection 2017. J Neurodev Disord. 2017. PMID: 28616094 Free PMC article.
Fragile X targeted pharmacotherapy: lessons learned and future directions.
Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, Fitzpatrick SE, Brown WT, Budimirovic D, Hagerman RJ, Hessl D, Kaufmann WE, Berry-Kravis E. Erickson CA, et al. Among authors: kaufmann we. J Neurodev Disord. 2017 Jun 12;9:7. doi: 10.1186/s11689-017-9186-9. eCollection 2017. J Neurodev Disord. 2017. PMID: 28616096 Free PMC article. Review.
216 results