Exome Sequencing in 32 Patients with Anophthalmia/Microphthalmia and Developmental Eye Defects

Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome™ (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four patients...

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Pubblicato in:Clin Genet
Autori principali: Slavotinek, Anne M., Garcia, Sarah T., Chandratillake, Gemma, Bardakjian, Tanya, Ullah, Ehsan, Wu, Di, Umeda, Kyle, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Madireddy, Lohith, Lyalina, Svetlana, Mendelsohn, Bryce A., Dugan, Sarah, Tirch, Jean, Tischler, Reana, Harris, Jason, Clark, Michael J., Chervitz, Stephen, Patwardhan, Anil, West, John M., Ursell, Phillip, de Alba Campomanes, Alejandra, Schneider, Adele, Kwok, Pui-yan, Baranzini, Sergio, Chen, Richard O.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4452457/
https://ncbi.nlm.nih.gov/pubmed/25457163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12543
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