Dennis Lal

researcher

Dennis Lal is …
instance of (P31):
humanQ5

External links are
P496ORCID iD0000-0002-5173-9636

P735given nameDennisQ639292
DennisQ639292
P106occupationresearcherQ1650915

Reverse relations

author (P50)
Q4871005716p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
Q92267109Assessment of genetic variant burden in epilepsy-associated brain lesions
Q28647874Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies
Q64948892Clinical spectrum of STX1B-related epileptic disorders.
Q101237180Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
Q113820697Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Q57573942De novo variants in neurodevelopmental disorders with epilepsy
Q64097577Diagnostic implications of genetic copy number variation in epilepsy plus
Q35962539Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes
Q47846216Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
Q57807924Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies
Q41543882Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
Q92216688Identification of pathogenic variant enriched regions across genes and gene families
Q35898892Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing
Q95840013Lessons learned from 40 novel PIGA patients and a review of the literature
Q47810400Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Q100938250Polygenic risk heterogeneity among focal epilepsies
Q98499117Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Q57573940Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
Q46499520Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
Q57573937Rare gene deletions in genetic generalized and Rolandic epilepsies
Q48304242Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes
Q30981903Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Q92203048Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
Q91139246Spectrum of GABAA receptor variants in epilepsy
Q112559770Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
Q92995751The spectrum of intermediate SCN8A-related epilepsy
Q92005052Variant Score Ranker-a web application for intuitive missense variant prioritization

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