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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. Latham SL, et al. Among authors: friez mj. Nat Commun. 2018 Oct 12;9(1):4250. doi: 10.1038/s41467-018-06713-0. Nat Commun. 2018. PMID: 30315159 Free PMC article.
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. Latham SL, et al. Among authors: friez mj. Nat Commun. 2018 Nov 19;9(1):4930. doi: 10.1038/s41467-018-07404-6. Nat Commun. 2018. PMID: 30451859 Free PMC article.
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Bronicki LM, et al. Among authors: friez mj. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Eur J Hum Genet. 2015. PMID: 25920557 Free PMC article.
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: friez mj. Clin Epigenetics. 2019 Apr 27;11(1):64. doi: 10.1186/s13148-019-0658-5. Clin Epigenetics. 2019. PMID: 31029150 Free PMC article.
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. Risheg H, et al. Among authors: friez mj. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4. Nat Genet. 2007. PMID: 17334363
105 results