Associated Papers
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
Žakelj N et al.
Hgg Advances, 2025
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
40755077 (PubMed )
Supplement: hkmj2412298-supplementary.pdf
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
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
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
Alrifai MT et al.
Journal of Child Neurology, 2024
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L et al.
Clinical Genetics, 2023
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Onesimo R et al.
Genes, 2023
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š et al.
International Journal of Molecular Sciences, 2022
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_
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
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
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