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POSEY, JENNIFER
One or more keywords matched the following items that are connected to POSEY, JENNIFER
Item TypeName
Concept Genetic Variation
Academic Article A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
Academic Article Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Academic Article Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Academic Article Perturbations of BMP/TGF-? and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Academic Article The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Academic Article Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Academic Article Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.
Academic Article Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Academic Article A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Academic Article Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
Academic Article MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Academic Article Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
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  • Genetic Variation