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List of works by Michael O Dorschner

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

scientific article published on 02 December 2008

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

scientific article

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on 2 June 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on July 2016

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

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