Associated Papers
Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.
Fasaludeen A et al.
Clinical Genetics, 2026
Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.
Butt AI et al.
Scientific Reports, 2026
Development of a split-toxin CRISPR screening platform to systematically identify regulators of human myoblast fusion.
Zhang H et al.
Nature Communications, 2026
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
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D 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
A Novel Gene (UFSP2) Associated with Infantile Epileptic Spasms Syndrome.
Bhanudeep S et al.
Indian Journal of Pediatrics, 2025
A real-world comparison between the diagnostic yield of trio-whole exome sequencing and proband-only targeted exome sequencing in complex childhood epilepsy.
Fasaludeen A et al.
Seizure, 2025
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Garg N et al.
Clinical Genetics, 2025
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
Yasin M et al.
Bmc Neurology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
A guide to UFMylation, an emerging posttranslational modification.
Millrine D et al.
The Febs Journal, 2023
The UFM1 conjugation system in mammalian development.
Yang S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.
Mattern L et al.
Bone Reports, 2023
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Ni M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014