Associated Papers
A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.
Sönmez B et al.
Molecular Syndromology, 2025
Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
Mao B et al.
Bmc Musculoskeletal Disorders, 2025
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 2024
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
Nyaga DM et al.
Npj Genomic Medicine, 2024
Ethnically unique disease burden and limitations of current expanded carrier screening panels.
Chen CL et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2024
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
Buchignani B et al.
Genes, 2024
Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.
Mansur A et al.
Elife, 2023
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
Huang R et al.
Human Genetics, 2023
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.
Skrypnyk C et al.
Frontiers in Genetics, 2023
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT et al.
Healthcare (basel, Switzerland), 2022
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Cornthwaite M et al.
Prenatal Diagnosis, 2022
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Yuan H et al.
Orphanet Journal of Rare Diseases, 2022
Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.
Zhou G et al.
Medicine, 2022
Case Report: Prenatal Diagnosis of Nemaline Myopathy.
Liu D et al.
Frontiers in Pediatrics, 2022
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Yi S et al.
Molecular Genetics & Genomic Medicine, 2021
The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.
He M et al.
Frontiers in Genetics, 2021
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN et al.
The New England Journal of Medicine, 2020
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
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS et al.
Molecular Genetics & Genomic Medicine, 2020
Kelch-like proteins: Physiological functions and relationships with diseases.
Shi X et al.
Pharmacological Research, 2019
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
Lee HH et al.
Journal of Neuropathology and Experimental Neurology, 2019
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
Chen TH et al.
Prenatal Diagnosis, 2016
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Garg A et al.
The Journal of Clinical Investigation, 2014
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G et al.
American Journal of Human Genetics, 2013