Associated Papers
Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models.
Choudhary A et al.
Cell Death & Disease, 2026
Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases.
Neklyudova A et al.
International Journal of Molecular Sciences, 2026
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Chorin O et al.
Orphanet Journal of Rare Diseases, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models.
Tumdam R et al.
International Journal of Molecular Sciences, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Levy T et al.
Journal of Neurodevelopmental Disorders, 2024
SHANK3 Mutations Associated with Autism and Schizophrenia Lead to Shared and Distinct Changes in Dendritic Spine Dynamics in the Developing Mouse Brain.
Huang C et al.
Neuroscience, 2023
The NO Answer for Autism Spectrum Disorder.
Tripathi MK et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2023
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.
Hussein Y et al.
Translational Psychiatry, 2023
Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.
Nayak R et al.
Stem Cell Research, 2022
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Loureiro LO et al.
Npj Genomic Medicine, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
Xu N et al.
Orphanet Journal of Rare Diseases, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.
Kohlenberg TM et al.
Journal of Neurodevelopmental Disorders, 2020
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation.
Bey AL et al.
Pediatrics, 2020
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
Zhou WZ et al.
Human Mutation, 2019
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich A et al.
Molecular Autism, 2019
Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Kolevzon A et al.
Molecular Autism, 2019
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
Li Y et al.
American Journal of Medical Genetics. Part A, 2018
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
De Rubeis S et al.
Molecular Autism, 2018
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.
Cochoy DM et al.
Molecular Autism, 2015