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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. Beaman MM, et al. Among authors: cohen jl. Am J Med Genet A. 2023 Nov;191(11):2757-2767. doi: 10.1002/ajmg.a.63363. Epub 2023 Aug 19. Am J Med Genet A. 2023. PMID: 37596828 Free PMC article.
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen JL, Schrier Vergano SA, Mazzola S, Strong A, Keena B, McDougall C, Ritter A, Li D, Bedoukian EC, Burke LW, Hoffman A, Zurcher V, Krantz ID, Izumi K, Bhoj E, Zackai EH, Deardorff MA. Cohen JL, et al. Am J Med Genet A. 2020 Dec;182(12):2926-2938. doi: 10.1002/ajmg.a.61883. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043588
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM. Duffy KA, et al. Among authors: cohen jl. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):693-708. doi: 10.1002/ajmg.c.31740. Epub 2019 Aug 30. Am J Med Genet C Semin Med Genet. 2019. PMID: 31469230 Free PMC article.
Whole-genome sequencing holds the key to the success of gene-targeted therapies.
Vockley J, Aartsma-Rus A, Cohen JL, Cowsert LM, Howell RR, Yu TW, Wasserstein MP, Defay T. Vockley J, et al. Among authors: cohen jl. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):19-29. doi: 10.1002/ajmg.c.32017. Epub 2022 Dec 1. Am J Med Genet C Semin Med Genet. 2023. PMID: 36453229
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM. Cohen JL, et al. Am J Med Genet A. 2018 Oct;176(10):2203-2214. doi: 10.1002/ajmg.a.40494. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244528 Free PMC article.
675 results