Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

To evaluate the diagnostic value of single-nucleotide polymorphism (SNP) array testing in 1033 fetuses with ultrasound anomalies we investigated the prevalence and genetic nature of pathogenic findings. We reclassified all pathogenic findings into three categories: causative findings; unexpected dia...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Srebniak, Malgorzata I, Diderich, Karin EM, Joosten, Marieke, Govaerts, Lutgarde CP, Knijnenburg, Jeroen, de Vries, Femke AT, Boter, Marjan, Lont, Debora, Knapen, Maarten FCM, de Wit, Merel C, Go, Attie TJI, Galjaard, Robert-Jan H, Van Opstal, Diane
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2016
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4930096/
https://ncbi.nlm.nih.gov/pubmed/26328504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.193
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