Daniel S Marchuk

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Chris Bizon, Jonathan S Berg, Alexandra Arreola, 2018, PloS one.

Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome

Laurie D. Smith, A. Pandya, C. Powell, 2017, American journal of medical genetics. Part A.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

Christian R. Tilley, E. Lange, J. Berg, 2017, The Journal of heart valve disease.

Germline Analysis from Tumor–Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings

Lisle E. Mose, D. Hayes, J. Parker, 2016, Clinical Cancer Research.

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

Christian R. Tilley, J. Berg, K. Wilhelmsen, 2017, Circulation. Cardiovascular genetics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.