Associated Papers
Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.
Guan L et al.
European Journal of Medical Research, 2026
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.
Bilamge A et al.
Journal of Child Neurology, 2025
Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.
Kantaputra PN et al.
International Dental Journal, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 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
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Malone KE et al.
Genetics in Medicine Open, 2025
Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.
Zhang Y et al.
European Journal of Ophthalmology, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Mares Beltran CF et al.
Genes, 2024
[Analysis of phenotype and pathogenic variant in a case of Heimler syndrome].
Zuo B et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 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
A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population.
Tang C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
A novel compound heterozygous PEX1 variant in Heimler syndrome.
Yu M et al.
Experimental Eye Research, 2023
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Liang JS et al.
Epilepsy & Behavior : E&b, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic diagnosis of fetal microcephaly at a single tertiary center in China.
Wang Y et al.
Frontiers in Genetics, 2023
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.
Lu P et al.
Translational Pediatrics, 2021
Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review.
Chen K et al.
Frontiers in Pediatrics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.
Vasiljevic E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
Han JJ et al.
Scientific Reports, 2019
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
Crane DI et al.
Human Mutation, 2005
Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.
Maxwell MA et al.
Human Mutation, 2005