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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B. Bend EG, et al. Among authors: gripp kw. Clin Epigenetics. 2019 Apr 27;11(1):64. doi: 10.1186/s13148-019-0658-5. Clin Epigenetics. 2019. PMID: 31029150 Free PMC article.
Mutations in the human TWIST gene.
Gripp KW, Zackai EH, Stolle CA. Gripp KW, et al. Hum Mutat. 2000;15(2):150-5. doi: 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10649491 Review.
Craniosynostosis: molecular testing-a necessity for counseling.
Zackai EH, Gripp KW, Stolle CA. Zackai EH, et al. Among authors: gripp kw. Am J Med Genet. 2000 May 15;92(2):157. doi: 10.1002/(sici)1096-8628(20000515)92:2<157::aid-ajmg16>3.0.co;2-8. Am J Med Genet. 2000. PMID: 10797444 No abstract available.
Clinical and molecular diagnosis should be consistent.
Gripp KW, Zackai EH, Cohen MM Jr. Gripp KW, et al. Am J Med Genet A. 2003 Aug 30;121A(2):188-9. doi: 10.1002/ajmg.a.20252. Am J Med Genet A. 2003. PMID: 12910503 No abstract available.
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078
Keratoconus in Costello syndrome.
Gripp KW, Demmer LA. Gripp KW, et al. Am J Med Genet A. 2013 May;161A(5):1132-6. doi: 10.1002/ajmg.a.35816. Epub 2013 Mar 13. Am J Med Genet A. 2013. PMID: 23494969
204 results