High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A
Published in Genetics in medicine (01.04.2018)
Published in Genetics in medicine (01.04.2018)
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Journal Article
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
Lindy, Amanda S., Stosser, Mary Beth, Butler, Elizabeth, Downtain‐Pickersgill, Courtney, Shanmugham, Anita, Retterer, Kyle, Brandt, Tracy, Richard, Gabriele, McKnight, Dianalee A.
Published in Epilepsia (Copenhagen) (01.05.2018)
Published in Epilepsia (Copenhagen) (01.05.2018)
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Journal Article