Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
Prenatal presentation of fetal bradycardia and long QT syndrome.
Chivers S et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2026
PACS1 syndrome variant alters proteomic landscape of developing cortical organoids.
Gomez-Maqueo X et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
The Structural Basis for Pacs1-Wdr37 Complex Assembly and Stability.
Xiao L et al.
Biorxiv : the Preprint Server for Biology, 2025
Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome.
Mekzine L et al.
American Journal of Human Genetics, 2025
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes.
Del Rincón J et al.
International Journal of Molecular Sciences, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2025
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study.
Pagano S et al.
Genes, 2025
Identification of Genetic Variants in Status Epilepticus Associated With Fever.
Hanafusa H et al.
Brain and Behavior, 2025
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
PACS deficiency disrupts Golgi architecture and causes cytokinesis failures and seizure-like phenotype in Drosophila melanogaster.
Frappaolo A et al.
Open Biology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.
Avila MN et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
PACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes.
Byrd DT et al.
Genetics, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y et al.
Nature, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Next-Generation Sequencing in Unexplained Intellectual Disability.
Sandal S et al.
Indian Journal of Pediatrics, 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
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Balancing neuronal activity to fight neurodevelopmental disorders.
Le S et al.
Trends in Neurosciences, 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
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
A case report of retinal dystrophy in patients with PACS1 syndrome.
Brown JE et al.
Ophthalmic Genetics, 2024
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.
Rylaarsdam L et al.
Nature Communications, 2024