Lindstrand, Anna <br/><br/>
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.  [electronic resource] 

 -  Genome medicine  11 2019 
 - 68 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1756-994X 
<br/><br/><label>Standard No.: </label>10.1186/s13073-019-0675-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Chromosome Aberrations<br/>Cytogenetic Analysis--methods<br/>DNA Copy Number Variations<br/>Diagnostic Tests, Routine<br/>Female<br/>Genetic Markers<br/>Genome, Human<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Male<br/>Pilot Projects<br/>Polymorphism, Single Nucleotide<br/>Prospective Studies<br/>Retrospective Studies<br/>Whole Genome Sequencing--methods