subject area of
- 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Academic Article
- A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor Academic Article
- A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder Academic Article
- A genome-wide scan for common alleles affecting risk for autism Academic Article
- A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Academic Article
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Academic Article
- An emerging role for Wnt and GSK3 signaling pathways in schizophrenia Academic Article
- Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer Academic Article
- Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis Academic Article
- Clinically detectable copy number variations in a Canadian catchment population of schizophrenia Academic Article
- Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors Academic Article
- Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies Academic Article
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Academic Article
- De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Academic Article
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Academic Article
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Academic Article
- Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Academic Article
- Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma Academic Article
- Functional impact of global rare copy number variation in autism spectrum disorders Academic Article
- Genetic Testing in Infantile Spasms Identifies a Chromosome 13q Deletion and Retinoblastoma Academic Article
- Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations Academic Article
- Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia Academic Article
- Intertumoral Heterogeneity within Medulloblastoma Subgroups Academic Article
- Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution Academic Article
- Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments Academic Article
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Academic Article
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Academic Article
- Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Academic Article
- Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders Academic Article
- Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD Academic Article
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Academic Article
- Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Academic Article
- SHANK1 Deletions in Males with Autism Spectrum Disorder Academic Article
- Segregating patterns of copy number variations in extended autism spectrum disorder ( ASD ) pedigrees Academic Article
- Serotonergic system antagonists target breast tumor initiating cells and synergize with chemotherapy to shrink human breast tumor xenografts Academic Article
- Spinal Myxopapillary Ependymomas Demonstrate a Warburg Phenotype Academic Article
- Subgroup-specific structural variation across 1,000 medulloblastoma genomes Academic Article
- The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism Academic Article
- The molecular genetic basis of atrial fibrillation Academic Article
- The phenotypic manifestations of rare genic CNVs in autism spectrum disorder Academic Article
- Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies Academic Article
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder Academic Article