Casper Shyr

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Development and evaluation of software for applied clinical genomics

Casper Shyr, C. Shyr, 2016 .

Usability study of clinical exome analysis software: Top lessons learned and recommendations

Wyeth W. Wasserman, André Kushniruk, Casper Shyr, 2014, J. Biomed. Informatics.

JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles

David J. Arenillas, Wyeth W. Wasserman, Chih-Yu Chen, 2013, Nucleic Acids Res..

JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles

David J. Arenillas, Wyeth W. Wasserman, Chih-Yu Chen, 2015, Nucleic Acids Res..

Exome Sequencing and the Management of Neurometabolic Disorders.

Andrea Superti-Furga, Rupasri Mandal, Wyeth W Wasserman, 2016, The New England journal of medicine.

FLAGS, frequently mutated genes in public exomes

Wyeth W Wasserman, Casper Shyr, Maja Tarailo-Graovac, 2014, BMC Medical Genomics.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Steven J. M. Jones, Shing Hei Zhan, Clara DM van Karnebeek, 2014, Orphanet Journal of Rare Diseases.

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

Wyeth W. Wasserman, André Kushniruk, Casper Shyr, 2015, J. Am. Medical Informatics Assoc..

This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon.

Michael Gottlieb, Casper Shyr, Casper Shyr, 2014 .

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Wyeth W. Wasserman, Scott A. Lear, Casper Shyr, 2017, Cold Spring Harbor molecular case studies.