Concepedia

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

Konstantinos N. Lazaridis, Kimberly A. Schahl, Margot A. Cousin, Dusica Babovic‐Vuksanovic, Douglas L. Riegert‐Johnson, Ralitza H. Gavrilova, Tammy M. McAllister, Noralane M. Lindor, Roshini S. Abraham, Michael J. Ackerman,

Mayo Clinic Proceedings · 2016 · 101 citations · 22 references

DOI

Concepts

References

22

Finishing the euchromatic sequence of the human genome

Nature · 2004 · 4.9K citations · Full text

, , +8

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe et al. · Cell · 1996 · 2.3K citations · Full text

, , +16

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

, , +17

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

, , +17

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in <i>GNAQ</i>

Matthew D. Shirley, Hao Tang, Carol J. Gallione et al. · New England Journal of Medicine · 2013 · 1.1K citations · Full text

, , +17