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Items: 3

1.

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

Marchuk DS, Crooks K, Strande N, Kaiser-Rogers K, Milko LV, Brandt A, Arreola A, Tilley CR, Bizon C, Vora NL, Wilhelmsen KC, Evans JP, Berg JS.

PLoS One. 2018 Dec 17;13(12):e0209185. doi: 10.1371/journal.pone.0209185. eCollection 2018.

2.

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

Haskell GT, Jensen BC, Skrzynia C, Pulikkotil T, Tilley CR, Lu Y, Marchuk DS, Ann Samsa L, Wilhelmsen KC, Lange E, Patterson C, Evans JP, Berg JS.

J Heart Valve Dis. 2017 Sep;26(5):569-580.

PMID:
29762926
3.

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS.

Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb.

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