Search Results - "Tilley, Christian R"

Increasing the diagnostic yield of exome sequencing by copy number variant analysis by Marchuk, Daniel S, Crooks, Kristy, Strande, Natasha, Kaiser-Rogers, Kathleen, Milko, Laura V, Brandt, Alicia, Arreola, Alexandra, Tilley, Christian R, Bizon, Chris, Vora, Neeta L, Wilhelmsen, Kirk C, Evans, James P, Berg, Jonathan S

“…As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read…”
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Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing by Filer, Dayne L, Kuo, Fengshen, Brandt, Alicia T, Tilley, Christian R, Mieczkowski, Piotr A, Berg, Jonathan S, Robasky, Kimberly, Li, Yun, Bizon, Chris, Tilson, Jeffery L, Powell, Bradford C, Bost, Darius M, Jeffries, Clark D, Wilhelmsen, Kirk C

“…Abstract Background As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number…”
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Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders by Haskell, Gloria T, Adams, Michael C, Fan, Zheng, Amin, Krunal, Guzman Badillo, Roberto J, Zhou, Linran, Bizon, Christopher, Chahin, Nizar, Greenwood, Robert S, Milko, Laura V, Shiloh-Malawsky, Yael, Crooks, Kristy R, Strande, Natasha, Tennison, Michael, Tilley, Christian R, Brandt, Alicia, Wilhelmsen, Kirk C, Weck, Karen, Evans, James P, Berg, Jonathan S

“…To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs). We performed exome sequencing in 93…”
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Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family by Haskell, Gloria T, Jensen, Brian C, Skrzynia, Cecile, Pulikkotil, Thelsa, Tilley, Christian R, Lu, Yurong, Marchuk, Daniel S, Ann Samsa, Leigh, Wilhelmsen, Kirk C, Lange, Ethan, Patterson, Cam, Evans, James P, Berg, Jonathan S

“…A genetic component to familial mitral valve prolapse (MVP) has been proposed for decades. Despite this, very few genes have been linked to MVP. Herein is…”
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