Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
Aslan-Kara K et al.
Seizure, 2024
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.
Gotra P et al.
Molecular Neurobiology, 2021
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem T et al.
Biomed Research International, 2021
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
Wieben ED et al.
Investigative Ophthalmology & Visual Science, 2019
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey JN et al.
The New England Journal of Medicine, 2018
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Raju PK et al.
Human Mutation, 2017
EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.
Thounaojam R et al.
Epilepsia Open, 2017
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
Abela L et al.
Journal of Inherited Metabolic Disease, 2016
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
Lindor NM et al.
Mayo Clinic Proceedings, 2015
Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.
von Podewils F et al.
Epilepsy & Behavior : E&b, 2015
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL et al.
Epilepsia, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
WONOEP appraisal: new genetic approaches to study epilepsy.
Rossignol E et al.
Epilepsia, 2014
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS et al.
Journal of Neurogenetics, 2013
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
de Nijs L et al.
Human Molecular Genetics, 2012
Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
Jara-Prado A et al.
Seizure, 2012
Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Berger I et al.
Epilepsia, 2012
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Bai D et al.
Epilepsia, 2009
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
Medina MT et al.
Neurology, 2008
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy.
King SM
Cell Motility and the Cytoskeleton, 2006
Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Suzuki T et al.
Nature Genetics, 2004