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
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
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Cheung ACT et al.
Molecular Genetics and Metabolism, 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
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Yergeau C et al.
Ophthalmology, 2023
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
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
Gagnon C et al.
Hormone Research in Paediatrics, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized 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
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
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
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.
Berendse K 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
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N et al.
Ophthalmic Genetics, 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
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
Rational diagnostic strategy for Zellweger syndrome spectrum patients.
Krause C et al.
European Journal of Human Genetics : Ejhg, 2009