Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.
Woods E et al.
American Journal of Medical Genetics. Part A, 2025
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Woods E et al.
Clinical Genetics, 2024
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
Pang N et al.
Gene, 2024
De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.
Wang Q et al.
Molecular Genetics & Genomic Medicine, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Cuddapah VA et al.
American Journal of Medical Genetics. Part A, 2021
Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report.
Li JR et al.
World Journal of Clinical Cases, 2020
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
[Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].
Zhang R et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Hegde M et al.
Archives of Pathology & Laboratory Medicine, 2017
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014