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List of works by Miriam S Reuter

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

scientific article published in January 2018

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

scientific article published on 24 May 2017

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

scientific article

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

scientific article published on 10 February 2020

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