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
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R et al.
International Journal of Obesity (2005), 2025
Transcriptomic Analysis Uncovers an Unfolded Protein Response in ADNP Syndrome.
Bieluszewska A et al.
Molecular and Cellular Biology, 2025
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.
Zhang Y et al.
Frontiers in Genetics, 2023
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.
Ivashko-Pachima Y et al.
Molecular Psychiatry, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Tauopathy in the young autistic brain: novel biomarker and therapeutic target.
Grigg I et al.
Translational Psychiatry, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Bend EG et al.
Clinical Epigenetics, 2019
Cellular and animal models of skin alterations in the autism-related ADNP syndrome.
Mollinedo P et al.
Scientific Reports, 2019
The autism spectrum phenotype in ADNP syndrome.
Arnett AB et al.
Autism Research : Official Journal of the International Society for Autism Research, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
Pascolini G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.
Gozes I et al.
Translational Psychiatry, 2017
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C et al.
Nature Genetics, 2014