about
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeCHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneHeterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceDisruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humansRecurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotypeA recent bottleneck of Y chromosome diversity coincides with a global change in cultureRecurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeParental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingDominant β-catenin mutations cause intellectual disability with recognizable syndromic features.Mobster: accurate detection of mobile element insertions in next generation sequencing data.12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.Diagnostic genome profiling in mental retardation.Microdeletion and microduplication syndromes.Refining analyses of copy number variation identifies specific genes associated with developmental delayMutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityHomozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.Exome sequencing identifies three novel candidate genes implicated in intellectual disabilityA new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesTwo families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotypeNR2F1 mutations cause optic atrophy with intellectual disability.Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.Point mutations as a source of de novo genetic disease.A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyDe novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.Recurrence and variability of germline EPCAM deletions in Lynch syndrome.Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.Variation of CNV distribution in five different ethnic populations.GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.Detection of clinically relevant copy number variants with whole-exome sequencing.
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Lisenka Vissers
@ast
Lisenka Vissers
@en
Lisenka Vissers
@es
Lisenka Vissers
@nl
Lisenka Vissers
@sl
type
label
Lisenka Vissers
@ast
Lisenka Vissers
@en
Lisenka Vissers
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Lisenka Vissers
@nl
Lisenka Vissers
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prefLabel
Lisenka Vissers
@ast
Lisenka Vissers
@en
Lisenka Vissers
@es
Lisenka Vissers
@nl
Lisenka Vissers
@sl
P1053
A-2598-2015
P106
P21
P2798
P31
P3829
P496
0000-0001-6470-5497