Exome sequencing identifies genetic causes in Rwandan children
A study in BMC Medical Genomics reports a 60% diagnostic yield from trio exome sequencing in 25 Rwandan families with ...
A study in BMC Medical Genomics reports a 60% diagnostic yield from trio exome sequencing in 25 Rwandan families with ...
A case-control study in Egypt found higher gastrointestinal symptom prevalence in children with autism spectrum disorder and linked elevated TNF-alpha ...
A study of 147 Autistic youth in Canada found that those diagnosed later in childhood or adolescence accessed psychiatric healthcare ...
A new study in Applied Network Science uses complexity-informed causal modeling to characterize pediatric high-grade gliomas as neurodevelopmental disorders with ...
A clinical report details a novel hemizygous nonsense variant in the PPP1R3F gene identified in a young boy, expanding the ...
A scientific review in Cell Communication and Signaling outlines how distinct ADGRL1 receptor states coordinate neural synapse stability, metabolic regulation, ...
A meeting report from the fourth annual FASD workshop finds that 84.6 percent of military-connected children with fetal alcohol syndrome ...
A population-wide Manitoba cohort study found siblings of autistic children face elevated risks of mental disorders, psychotropic prescriptions and reduced ...
Human stem cell-derived neural progenitor cells reveal that unliganded thyroid hormone receptor maintains chromatin homeostasis through the NuRD complex and ...
A multicenter Chinese study found that a fine-tuned large language model identified autism spectrum disorder in young children from electronic ...
A new EEG study combined entropy-optimized symbolic signal analysis with a bidirectional LSTM network to distinguish children with ADHD from ...
Deleting Ptprd changes excitatory and inhibitory neuron markers and disrupts synaptic transmission in the postnatal mouse somatosensory cortex.
Re-analysis of 7,221 rare disease genomes shows outdated annotations in SpliceAI's precomputed scores can miss clinically relevant splice-altering variants.
A Genome Medicine study finds differential expression outperforms allele-specific analysis for most genes, while CRISPR allele labeling enables sensitive targeted ...
A retrospective study found that ASD individuals with epilepsy exhibited significantly lower cognitive performance compared to those with ASD alone ...
A rare gain-of-function BMPR2 variant shared by six unrelated children was linked to developmental delay, autism and abnormal nervous-system signaling ...
A retrospective Japanese study of 398 children found that those with neurodevelopmental disorders lived a mean of 12 kilometers farther ...
A planned U.S. study involving at least 125 SYNGAP1 caregivers will examine quality of life, caregiving, independence, education, employment and ...
New research reveals that slow spindle density and slow oscillation coupling during a daytime nap are linked to speech-sound memory ...
A study of 123 Italian children finds that autism Level 1 and ADHD produce similar social difficulties through opposite neurocognitive ...
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