Associated Papers
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N et al.
Human Genomics, 2026
Genetic predispositions and nutritional strategies: a review of nutrigenomics in Parkinson's disease.
Mohamed YA et al.
Neuroscience, 2026
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.
Schott C et al.
Genes, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
POLG p.A962T Mutation Leads to Neuronal Mitochondrial Dysfunction That is Restored After Mitochondrial Transplantation.
Hu W et al.
Physiological Research, 2024
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age].
Hao N et al.
Zhonghua Fu Chan Ke Za Zhi, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Genetic evaluation in indeterminate acute liver failure: A post hoc analysis.
Wang C et al.
Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J et al.
Scientific Reports, 2024
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
Kadohisa M et al.
Pediatric Transplantation, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor.
Rothwell S et al.
Frontiers in Physiology, 2024
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
Usage of Genetic Panels in an Adult Epilepsy Clinic.
Li J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.
Sun S et al.
International Journal of Molecular Sciences, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
Chen PS et al.
Journal of Neuromuscular Diseases, 2023
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E et al.
American Journal of Human Genetics, 2022
Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
Rahman MM et al.
The Journal of Biological Chemistry, 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease.
Wu T et al.
Pediatric Neurology, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
A Novel Variant of the KIF11 Gene, c.2922G>T, Is Associated with Microcephaly by Affecting RNA Splicing.
Guo Z et al.
Developmental Neuroscience, 2022
Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.
Chen B et al.
Journal of Ophthalmology, 2022
A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?
Idiculla PS et al.
Journal of Clinical and Translational Research, 2021
Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan.
Hsu JL et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant.
Sriwattanapong K et al.
International Journal of Neonatal Screening, 2021
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021