2015
MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J, Isidor B, Gan G, Francannet C, Gunel M, Jones J, Gleeson J, Willems M, Mandel J, Stevenson R, Friez M, Aylsworth A. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Journal Of Medical Genetics 2015, 52: a2. DOI: 10.1136/jmedgenet-2015-103577.6.Peer-Reviewed Original ResearchDual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) geneDNA sequence variationExome next-generation sequencingLarge chromosomal deletionsDown syndrome critical regionIntellectual disability phenotypeIdentification of mutationsWhole-exome next-generation sequencingIntellectual disabilitySyndrome critical regionComparative genomic hybridization analysisNext-generation sequencingSyndromic intellectual disabilityChromosomal rearrangementsMultiple genesSequence variationGenomic hybridization analysisRecurrent clinical featuresTypes of mutationsDYRK1AHybridization analysisArray comparative genomic hybridization analysisChromosomal deletionsPoor weight gainDisability phenotype
2011
Recessive LAMC3 mutations cause malformations of occipital cortical development
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Çağlayan A, Öztürk A, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Özçelik T, Lifton RP, Šestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43: 590-594. PMID: 21572413, PMCID: PMC3329933, DOI: 10.1038/ng.836.Peer-Reviewed Original Research