Sort   by:  
 Page size 
GenomicsGenome sequencing coupled with iPSC technology identifies GTDC1 as a novel candidate gene involved in Neurodevelopmental Disorders
We identified genomic structural alterations of six patients with signs of neurodevelopmental disorder (NDDs) that harbour chromosomal rearrangements using large-insert paired-end tag sequencing (DNA-PET). This technique allowed the refinement of chromosomal breakpoints and lead to the identificatio...
ORGANISM(S): Homo sapiens 
2014-09-03 | E-GEOD-51430 | biostudies-arrayexpress
GenomicsTargeted next-generation sequencing in family with an occurrence of neurodevelopmental disorders and epilepsy
We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in two boys with neurodevelopmental disorders and epilepsy and their unaffected parents
ORGANISM(S): Homo sapiens 
2019-12-31 | E-MTAB-8131 | biostudies-arrayexpress
ProteomicsUnveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study, we identified 23 unique variants...
ORGANISM(S): Homo sapiens (Human) 
2025-08-04 | PXD058728 | Pride
Human Dia-pasef Bottom-up Immunopurification lc-ms Proteasome Neurodevelopmental disorders 
GenomicsBiallelic variants in CSPG4 cause a novel neurodevelopmental disorder with intellectual disability, global developmental delay and facial anomalies
Biallelic variants in CSPG4 cause a novel neurodevelopmental disorder with intellectual disability, global developmental delay and facial anomalies
PRJNA954363 | ENA
UnknownMutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Not available
S-EPMC3882725 | biostudies-literature
GenomicsComparison of the diagnostic yield of aCGH and NGS across different neurodevelopmental disorders
Current recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridization array (aCGH). The present study compares the diagnostic yield ...
EGAS00001004949 | EGA
GenomicsDeleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
PRJNA895326 | ENA
UnknownAssociation between Ambient Ultrafine Particles and Neurodevelopmental Delay in Preschoolers in Shanghai, China.
Not available
S-EPMC11744390 | biostudies-literature
UnknownImmune network dysregulation associated with child neurodevelopmental delay: modulatory role of prenatal alcohol exposure.
Not available
S-EPMC6988366 | biostudies-literature
UnknownADHD-related sex differences in fronto-subcortical intrinsic functional connectivity and associations with delay discounting.
Not available
S-EPMC6292003 | biostudies-literature
Sort   by:  
 Page size