Associated Papers
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.
Soriano-Sexto A et al.
European Journal of Human Genetics : Ejhg, 2026
Inherited Retinal Disease as a Predisposing Factor for Paclitaxel Maculopathy.
Meshkin RS et al.
Journal of Vitreoretinal Diseases, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.
Bilamge A et al.
Journal of Child Neurology, 2025
Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder.
Tharakan RM et al.
Jimd Reports, 2025
Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.
Kantaputra PN et al.
International Dental Journal, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Cheung ACT et al.
Molecular Genetics and Metabolism, 2025
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
Congenital retinal folds.
Zhong L et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 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
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.
Karuntu JS et al.
Ophthalmic Genetics, 2024
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V et al.
Orphanet Journal of Rare Diseases, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
Gagnon C et al.
Hormone Research in Paediatrics, 2023
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama AM et al.
Npj Genomic Medicine, 2022
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.
Bose M et al.
Cells, 2022
AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder.
Argyriou C et al.
Molecular Therapy. Methods & Clinical Development, 2021
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.
Alamatsaz M et al.
Journal of Cellular Biochemistry, 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
Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.
Klouwer FCC et al.
Frontiers in Cell and Developmental Biology, 2021
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
Hall PL et al.
International Journal of Neonatal Screening, 2020
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N et al.
Prenatal Diagnosis, 2020
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.
MacLean GE et al.
Journal of Cellular Biochemistry, 2019
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Klouwer FCC et al.
Journal of Inherited Metabolic Disease, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Wangler MF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
Novel retinal findings in peroxisomal biogenesis disorders.
O'Bryhim BE et al.
Ophthalmic Genetics, 2018
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N et al.
Ophthalmic Genetics, 2018
Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.
Soliman K et al.
Scientific Reports, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.
Herzog K et al.
Journal of Lipid Research, 2016
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.
Berendse K et al.
Journal of Inherited Metabolic Disease, 2016
Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations.
Gunduz M et al.
Case Reports in Pediatrics, 2016
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I et al.
American Journal of Human Genetics, 2015
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Wang XM et al.
Stem Cell Research & Therapy, 2015