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Page 1
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Among authors: thurm a. Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20. Am J Med Genet A. 2017. PMID: 29052317 Free PMC article.
Observations on intelligence and behavior in 15 patients with Legius syndrome.
Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plasschaert E, Ruppert SL, Snow J, Thurm AE, Joseph LA, Fryns JP, Legius E. Denayer E, et al. Among authors: thurm ae. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):123-8. doi: 10.1002/ajmg.c.30297. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495177 Free PMC article.
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE. Han JC, et al. Among authors: thurm a. Cortex. 2013 Nov-Dec;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009. Epub 2013 Feb 19. Cortex. 2013. PMID: 23517654 Free PMC article.
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. Shehata L, et al. Among authors: thurm a. Am J Med Genet A. 2014 Nov;164A(11):2892-900. doi: 10.1002/ajmg.a.36709. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25251875 Free PMC article.
MED23-associated intellectual disability in a non-consanguineous family.
Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. Trehan A, et al. Among authors: thurm a. Am J Med Genet A. 2015 Jun;167(6):1374-80. doi: 10.1002/ajmg.a.37047. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25845469 Free PMC article.
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Lam C, et al. Among authors: thurm a. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7. Genet Med. 2017. PMID: 27388694 Free PMC article.
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K, Kruszka P, Guillen Sacoto MJ, Addissie YA, Hadley DW, Hadsall CK, Stokes B, Hu P, Roessler E, Solomon B, Wiggs E, Thurm A, Hufnagel RB, Zein WM, Hahn JS, Stashinko E, Levey E, Baldwin D, Clegg NJ, Delgado MR, Muenke M. Weiss K, et al. Among authors: thurm a. Genet Med. 2018 Jan;20(1):14-23. doi: 10.1038/gim.2017.68. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640243 Free PMC article.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
Cover Image, Volume 173A, Number 12, December 2017.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Among authors: thurm a. Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548. Am J Med Genet A. 2017. PMID: 29136352
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR. Gartner V, et al. Among authors: thurm a. Am J Med Genet A. 2018 Dec;176(12):2768-2776. doi: 10.1002/ajmg.a.40628. Epub 2018 Dec 11. Am J Med Genet A. 2018. PMID: 30548380
205 results