human | Q5 |
P496 | ORCID iD | 0000-0002-7268-8559 |
P734 | family name | Heinzen | Q37481601 |
Heinzen | Q37481601 | ||
Heinzen | Q37481601 | ||
P735 | given name | Erin | Q770100 |
Erin | Q770100 | ||
P106 | occupation | researcher | Q1650915 |
Q47169309 | A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations |
Q34768431 | A genome-wide comparison of the functional properties of rare and common genetic variants in humans |
Q33406258 | A genome-wide investigation of SNPs and CNVs in schizophrenia |
Q24644827 | A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB |
Q35766082 | A whole-genome analysis of premature termination codons |
Q35794427 | Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease |
Q55128222 | Analysis of shared heritability in common disorders of the brain |
Q38631591 | Annotating pathogenic non-coding variants in genic regions |
Q91997808 | Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
Q92610618 | Autism and developmental disability caused by KCNQ3 gain-of-function variants |
Q36094652 | Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients |
Q28943476 | Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study |
Q57323037 | Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia |
Q46085643 | De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures |
Q54534163 | De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. |
Q24600468 | De novo mutations in ATP1A3 cause alternating hemiplegia of childhood |
Q24621776 | De novo mutations in epileptic encephalopathies |
Q35901103 | Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis |
Q34546995 | Distinct neurological disorders with ATP1A3 mutations |
Q36766098 | Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis. |
Q33881325 | Ethical challenges in genotype-driven research recruitment |
Q36439344 | Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome |
Q24620622 | Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy |
Q36152879 | Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia |
Q30457108 | Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG). |
Q28255243 | Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance |
Q31129974 | Genic intolerance to functional variation and the interpretation of personal genomes |
Q33535874 | Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals |
Q34257932 | Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions |
Q33906177 | Genome-wide scan of copy number variation in late-onset Alzheimer's disease |
Q36101281 | Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery |
Q36891139 | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures |
Q34172669 | HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans |
Q28115754 | Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy |
Q37152978 | Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy |
Q64042824 | NBEA: Developmental disease gene with early generalized epilepsy phenotypes |
Q44347872 | Neuronal nitric oxide modulates morphine antinociceptive tolerance by enhancing constitutive activity of the mu-opioid receptor |
Q35752646 | Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. |
Q40142515 | Postmortem delay has minimal effect on brain RNA integrity |
Q38844503 | Primer Part 1-The building blocks of epilepsy genetics |
Q36439331 | Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium |
Q33847202 | Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes |
Q33651270 | SLC25A22 is a novel gene for migrating partial seizures in infancy. |
Q34188360 | SVA: software for annotating and visualizing sequenced human genomes |
Q33965942 | Screening the human exome: a comparison of whole genome and whole transcriptome sequencing |
Q52573138 | Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. |
Q41773363 | Somatic activation of AKT3 causes hemispheric developmental brain malformations |
Q41369944 | Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. |
Q33691366 | The characterization of twenty sequenced human genomes |
Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
Q38404155 | The genetics of neuropsychiatric diseases: looking in and beyond the exome |
Q33409947 | Tissue-specific genetic control of splicing: implications for the study of complex traits |
Q24604693 | Using ERDS to infer copy-number variants in high-coverage genomes |
Q34000914 | Utilizing population controls in rare-variant case-parent association tests |
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