Bert Ba de Vries
Ba W, Yan Y, Reijnders M, Schuurs Hoeijmakers J, Feenstra I, Bongers E, et al
. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. Hum Mol Genet. 2016;25:892-902 pubmed publisher
..Together, our findings provide new mechanistic insight into how genetic deficits in TRIO can lead to early neuronal network formation by directly affecting both neurite outgrowth and synapse development. ..
Nabais Sá M, Jensik P, McGee S, Parker M, Lahiri N, McNeil E, et al
. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genet Med. 2019;: pubmed publisher
..Because the clinical picture can be nonspecific, detailed phenotype information, segregation, and functional analysis are fundamental to determine the pathogenicity of novel variants and to improve the care of these patients. ..
Jansen S, van der Werf I, Innes A, Afenjar A, Agrawal P, Anderson I, et al
. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Eur J Hum Genet. 2019;27:738-746 pubmed publisher
..The current series show the power of reverse phenotyping in the interpretation of novel genetic variances in individuals who initially did not appear to have a clear recognizable phenotype. ..
van der Donk R, Jansen S, Schuurs Hoeijmakers J, Koolen D, Goltstein L, Hoischen A, et al
. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. Genet Med. 2018;: pubmed publisher
..Our results show that analysis of facial photos can be used to detect previously unknown facial gestalts for novel ID syndromes, which will facilitate both clinical and molecular diagnosis of rare and novel syndromes. ..
Bosch D, Boonstra F, Gonzaga Jauregui C, Xu M, de Ligt J, Jhangiani S, et al
. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014;94:303-9 pubmed publisher
..These findings indicate that NR2F1 plays an important role in the neurodevelopment of the visual system and that its disruption can lead to optic atrophy with intellectual disability. ..
Jansen S, Kleefstra T, Willemsen M, de Vries P, Pfundt R, Hehir Kwa J, et al
. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clin Genet. 2016;90:413-419 pubmed publisher
..Our data show the existence of a novel phenotypic entity - distinct from CdLS - and caused by de novo SMC1A LoF mutations. ..
van Amen Hellebrekers C, Jansen S, Pfundt R, Schuurs Hoeijmakers J, Koolen D, Marcelis C, et al
. Duplications of SLC1A3: Associated with ADHD and autism. Eur J Med Genet. 2016;59:373-6 pubmed publisher
..We consider an association between SLC1A3 and the behavioural problems which can also be considered a contributing factor to behavioural problems in larger duplications overlapping the 5p13 microduplication syndrome region. ..
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert J, et al
. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet. 2017;100:650-658 pubmed publisher
..Thus, we show that de novo truncating PPM1D mutations in the last and penultimate exons cause syndromic ID, which provides additional insight into the role of cell-cycle checkpoint genes in neurodevelopmental disorders. ..
Gabriele M, Vulto van Silfhout A, Germain P, Vitriolo A, Kumar R, Douglas E, et al
. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017;100:907-925 pubmed publisher
..Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators. ..