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POSEY, JENNIFER
One or more keywords matched the following items that are connected to
POSEY, JENNIFER
Item Type
Name
Concept
Genetic Diseases, Inborn
Academic Article
Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
Academic Article
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Academic Article
Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article
Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article
Reanalysis of Clinical Exome Sequencing Data.
Academic Article
Genome sequencing and implications for rare disorders.
Academic Article
A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Academic Article
Exome variant discrepancies due to reference-genome differences.
Search Criteria
Genetic Diseases Inborn