Associated Papers
The Structural Basis for Pacs1-Wdr37 Complex Assembly and Stability.
Xiao L et al.
Biorxiv : the Preprint Server for Biology, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Nature, 2025
Genetic Abnormalities in Neurodevelopmental Disorders with Multidimensional Impairment.
Hanin C et al.
Journal of Molecular Neuroscience : Mn, 2025
High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.
O'Brien TJ et al.
Bmc Biology, 2025
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 2025
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.
Cells, 2025
Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.
Zbikowski A et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025
PACS2, PACS1, and VACTERL: A Clinical Overlap.
Massey H et al.
Molecular Syndromology, 2025
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Kava H et al.
Frontiers in Pediatrics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
PACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes.
Byrd DT et al.
Genetics, 2024
Genetic Diagnosis in Children with Developmental Delay.
Hung KL
Children (basel, Switzerland), 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
PACS-1 variant protein is aberrantly localized in C. elegans model of PACS1/PACS2 syndromes.
Byrd DT et al.
Biorxiv : the Preprint Server for Biology, 2024
PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.
Checri R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.
Stoian A et al.
Biomolecules, 2024
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.
Zhang H et al.
World Journal of Pediatrics : Wjp, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
Genome-wide kinase-MAM interactome screening reveals the role of CK2A1 in MAM Ca2+ dynamics linked to DEE66.
Thi My Nhung T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review.
Chou IJ et al.
Children (basel, Switzerland), 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
The Phosphofurin Acidic Cluster Sorting Protein 2 (PACS-2) E209K Mutation Responsible for PACS-2 Syndrome Increases Susceptibility to Apoptosis.
Zang RX et al.
Acs Omega, 2022
Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.
Neagu AC et al.
Medicina (kaunas, Lithuania), 2022
First reported case of an inherited PACS2 pathogenic variant with variable expression
Cesaroni E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
Valenzuela I et al.
American Journal of Medical Genetics. Part A, 2022
Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease.
Saneto RP et al.
Frontiers in Molecular Biosciences, 2022
[Clinical and genetic analysis of PACS2 gene variant in two child patients with developmental and epileptic encephalopathy 66].
Shen Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
Wu MJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y et al.
American Journal of Medical Genetics. Part A, 2021
Clinical variations of epileptic syndrome associated with PACS2 variant.
Mizuno T et al.
Brain & Development, 2021
Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma.
Vaisfeld A et al.
Epilepsia, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.
Muthaffar OY
Balkan Journal of Medical Genetics : Bjmg, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020