Associated Papers
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Cuillerier A et al.
Clinical Genetics, 2026
Brain morphometry and psychomotor development in children with PCH2A.
Pretzel P et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.
Khan A et al.
Clinical Genetics, 2025
Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations.
Emam BA et al.
Molecular Syndromology, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
Charouf D et al.
International Journal of Molecular Sciences, 2024
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.
Andjelkovic M et al.
Molecular Diagnosis & Therapy, 2024
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences.
Kagermeier T et al.
Disease Models & Mechanisms, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.
Zakaria RBM et al.
Cerebellum (london, England), 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR et al.
Bmc Medical Genomics, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.
Tortora M et al.
Cerebellum (london, England), 2023
Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.
Zhao R et al.
Cerebellum (london, England), 2023
New insights into RNA processing by the eukaryotic tRNA splicing endonuclease.
Hayne CK et al.
The Journal of Biological Chemistry, 2023
Structural basis of substrate recognition by human tRNA splicing endonuclease TSEN.
Sekulovski S et al.
Nature Structural & Molecular Biology, 2023
Structural basis for pre-tRNA recognition and processing by the human tRNA splicing endonuclease complex.
Hayne CK et al.
Nature Structural & Molecular Biology, 2023
What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?
Sekulovski S et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex.
Hayne CK et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
Modeling neurodegenerative disorders in zebrafish.
Bashirzade AA et al.
Neuroscience and Biobehavioral Reviews, 2022
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S et al.
Journal of Medical Genetics, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
Neonatal encephalopathy: Etiologies other than hypoxic-ischemic encephalopathy.
Sandoval Karamian AG et al.
Seminars in Fetal & Neonatal Medicine, 2021
The Clp1 R140H mutation alters tRNA metabolism and mRNA 3' processing in mouse models of pontocerebellar hypoplasia.
Monaghan CE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.
Sekulovski S et al.
Nature Communications, 2021
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.
Sepahvand A et al.
Molecular Genetics & Genomic Medicine, 2020
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
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
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Scocchia A et al.
Npj Genomic Medicine, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
van Dijk T et al.
Orphanet Journal of Rare Diseases, 2018
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.
Pacheva IH et al.
Frontiers in Pediatrics, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen IB et al.
Journal of Community Genetics, 2017
Brain morphometry in Pontocerebellar Hypoplasia type 2.
Ekert K et al.
Orphanet Journal of Rare Diseases, 2016
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 2016