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Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: baas f. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nürnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. Hum Mol Genet. 2015 Feb 15;24(4):987-93. doi: 10.1093/hmg/ddu513. Epub 2014 Oct 8. Hum Mol Genet. 2015. PMID: 25296916 Free PMC article.
Neuroblastoma is composed of two super-enhancer-associated differentiation states.
van Groningen T, Koster J, Valentijn LJ, Zwijnenburg DA, Akogul N, Hasselt NE, Broekmans M, Haneveld F, Nowakowska NE, Bras J, van Noesel CJM, Jongejan A, van Kampen AH, Koster L, Baas F, van Dijk-Kerkhoven L, Huizer-Smit M, Lecca MC, Chan A, Lakeman A, Molenaar P, Volckmann R, Westerhout EM, Hamdi M, van Sluis PG, Ebus ME, Molenaar JJ, Tytgat GA, Westerman BA, van Nes J, Versteeg R. van Groningen T, et al. Among authors: baas f. Nat Genet. 2017 Aug;49(8):1261-1266. doi: 10.1038/ng.3899. Epub 2017 Jun 26. Nat Genet. 2017. PMID: 28650485
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M. Flex E, et al. Among authors: baas f. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666370 Free PMC article.
RELN rare variants in myoclonus-dystonia.
Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS. Chatzispyrou IA, et al. Among authors: baas f. Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152. Hum Mol Genet. 2017. PMID: 28449065 Free PMC article.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: baas f. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
410 results