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Phenotypic variability and genetic susceptibility to genomic disorders
Santhosh Girirajan
, Evan E. Eichler
Biochemistry & Molecular Biology
Huck Institutes of the Life Sciences
Penn State Neuroscience Institute
Research output
:
Contribution to journal
›
Article
›
peer-review
218
Scopus citations
Overview
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Keyphrases
Genetic Susceptibility
100%
Phenotypic Variation
100%
Structural Polymorphism
100%
Genomic Disorders
100%
Epilepsy
50%
Genetic Disease
50%
Human Genome
50%
Intellectual Disability
50%
Autism
50%
Duplication
50%
Disease Severity
50%
Schizophrenia
50%
Congenital Malformations
50%
Disease Outcome
50%
Copy number Variation
50%
Common Disease
50%
Disease Pattern
50%
Penetrant
50%
Disease Management
50%
Rare Diseases
50%
Phenotypic Characteristics
50%
Varying Frequency
50%
Chromosome Structure
50%
Copy number Analysis
50%
Diagnostic Management
50%
Molecular Lesions
50%
Syndromic Form
50%
Biochemistry, Genetics and Molecular Biology
Molecular Lesion
50%