C. Shyr

发表

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..

FLAGS, frequently mutated genes in public exomes

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

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

W. Sly, C. Ross, W. Wasserman, 2014, American journal of human genetics.

Exome Sequencing and the Management of Neurometabolic Disorders.

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

Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis

David J. Arenillas, W. Wasserman, E. Portales-Casamar, 2010, Nucleic acids research.

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

Phillip A. Richmond, A. Paterson, C. Ross, 2020, Journal of Medical Genetics.

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects

C. Ross, W. Wasserman, M. Tarailo-Graovac, 2021, neurogenetics.

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

C. Ross, W. Wasserman, M. Tarailo-Graovac, 2014, neurogenetics.

Team-based care: A clinical pharmacist and family physicians

C. Shyr, Priti S. Flanagan, L. Blain, 2021, Canadian pharmacists journal : CPJ = Revue des pharmaciens du Canada : RPC.

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

C. Ackerley, C. Ross, W. Wasserman, 2014, Orphanet Journal of Rare Diseases.

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..

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

C. Ross, W. Wasserman, R. Rodenburg, 2016, Molecular genetics and metabolism.

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..

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.

Atypical cerebral palsy: genomics analysis enables precision medicine

C. Ross, W. Wasserman, H. Goez, 2018, Genetics in Medicine.

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

E. Shoubridge, W. Wasserman, H. Antonicka, 2015, European Journal of Human Genetics.

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

C. Ross, W. Wasserman, A. Masotti, 2018, Neuroscience.

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

P. Pavlidis, C. Ross, W. Wasserman, 2016, Molecular genetics and metabolism.

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

D. Wishart, S. Glynn, C. Ross, 2015, Orphanet Journal of Rare Diseases.

The genotypic and phenotypic spectrum of PIGA deficiency

C. Ross, W. Wasserman, M. Tarailo-Graovac, 2015, Orphanet Journal of Rare Diseases.

A novel recurrent mutation in ATP1A3 causes

C. Ross, M. Demos, C. Shyr, 2014 .

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

C. Ross, W. Wasserman, M. Tarailo-Graovac, 2014, neurogenetics.

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.

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

C. Ross, W. Wasserman, M. Tarailo-Graovac, 2016, Child neurology open.

Correction to: FLAGS, frequently mutated genes in public exomes

W. Wasserman, M. Tarailo-Graovac, C. V. van Karnebeek, 2017, BMC Medical Genomics.

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

David J. Arenillas, A. Sandelin, W. Wasserman, 2015 .

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

David J. Arenillas, A. Sandelin, W. Wasserman, 2015 .