Associated Papers
A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.
Harutyunyan L et al.
Brain Sciences, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.
Yang Z et al.
Npj Genomic Medicine, 2025
40691161 (PubMed )
Supplement: 41525_2025_512_MOESM1_ESM.pdf
Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
Ge C et al.
Molecular Autism, 2024
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E et al.
Plos Genetics, 2021
34324492 (PubMed )
Supplement: pgen.1009679.s019.xlsx › Sheet_B
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Bend EG et al.
Clinical Epigenetics, 2019
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.
Huynh MT et al.
European Journal of Human Genetics : Ejhg, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C et al.
Nature Genetics, 2014
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