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15
|
|
SMCHD1 is a target for gene activation therapy to treat Prader-Willi syndrome.
(science.org)
|
Iminitoff M
…
Blewitt ME
Science Advances
2026-10-09
|
#epigenetics
#imprinting
#prader-willi
#gene therapy
#neurodevelopmental
|
|
12
|
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A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.
(linkinghub.elsevier.com)
|
Meyer-Schuman R
…
Zoghbi H
American Journal of Human Genetics
2026-10-09
|
#autism
#regulatory
#variants
#neurodevelopmental
#x-linked
|
|
6
|
|
Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.
(nature.com)
|
van den Berg DM
…
Martin HC
Nature Genetics
2026-10-05
|
#imputation
#neurodevelopmental
#genome-wide association
#genetics
|
|
5
|
|
Hyperfunction of PSD-95 leads to hyperexcitability and cognitive abnormalities in MEF2C haploinsufficiency.
(pnas.org)
|
Pan M
…
Tsai NP
PNAS
2026-10-07
|
#epilepsy
#neurodevelopmental
#synaptic
#intellectual disability
#excitotoxicity
|
|
1
|
|
Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.
(linkinghub.elsevier.com)
|
Macintosh J
…
Ernst C
American Journal of Human Genetics
2026-09-30
|
#neurodevelopmental
#sequencing
#gene therapy
#ipsc
#genetics
|
|
0
|
|
MeCP2 MBD-ID module: a unified DNA/RNA binding interface disrupted in Rett syndrome.
(academic.oup.com)
|
Peter JA
…
Wuttke DS
Nucleic Acids Research
2026-09-22
|
#epigenetics
#rett syndrome
#neurodevelopmental
#protein-nucleic-acid-interactions
|
|
0
|
|
PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids.
(linkinghub.elsevier.com)
|
Gomez-Maqueo X
…
Guemez-Gamboa A
iScience
2026-09-24
|
#proteomics
#organoid
#neurodevelopmental
#autism
|
|
0
|
|
Transcriptome-based classification in mice with ASD-risk mutations.
(science.org)
|
Roh JD
…
Kim E
Science
2026-09-17
|
#transcriptomics
#autism
#sequencing
#neurodevelopmental
#synaptic
|
|
0
|
|
Parsing heterogeneity in autism spectrum disorder.
(science.org)
|
Martin JM
…
Geschwind DH
Science
2026-09-17
|
#autism
#genetics
#heterogeneity
#neurodevelopmental
#pathways
|
|
0
|
|
Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.
(jci.org)
|
Calhoun JD
…
Carvill GL
Journal of Clinical Investigation
2026-09-17
|
#machine learning
#epilepsy
#variant interpretation
#pathogenicity-prediction
#neurodevelopmental
|
|
0
|
|
Maternal-fetal immune conflict contributes to male-specific impairments in a mouse model of neurodevelopmental disorders.
(science.org)
|
Sanchez-Martin I
…
Cheadle L
Science Advances
2026-09-16
|
#neurodevelopmental
#placenta
#immunity
#transcriptomics
#inflammation
|