Publications by authors named "Casper Shyr"

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Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
Xin Cynthia Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Casper Shyr

J Med Genet· January 2022

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Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Clara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, Vladimir Avramovic, Magda Price, Casper Shyr

Neurogenetics· October 2021

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Team-based care: A clinical pharmacist and family physicians.
Lori Blain, Priti S Flanagan, Casper Shyr

Can Pharm J (Ott)· June 2021

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Atypical cerebral palsy: genomics analysis enables precision medicine.
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Casper Shyr

Genet Med· July 2019

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Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Gabriella A Horvath, Yulin Zhao, Maja Tarailo-Graovac, Cyrus Boelman, Harinder Gill, Casper Shyr

Neuroscience· August 2018

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Correction to: FLAGS, frequently mutated genes in public exomes.
Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, Jessica Jy Lee, Clara van Karnebeek

BMC Med Genomics· November 2017

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Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo mutation.
Stephanie C Bourne, Katelin N Townsend, Casper Shyr, Allison Matthews, Scott A Lear

Cold Spring Harb Mol Case Stud· January 2017

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Further Validation of the c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
Jessica J Y Lee, Clara D M van Karnebeek, Britt Drögemoller, Casper Shyr, Maja Tarailo-Graovac

Child Neurol Open· September 2016

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Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova

N Engl J Med· June 2016

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Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
Saikat Santra, Jessie M Cameron, Casper Shyr, Linhua Zhang, Britt Drögemöller

Mol Genet Metab· May 2016

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Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.
Casper Shyr, Andre Kushniruk, Clara D M van Karnebeek, Wyeth W Wasserman

J Am Med Inform Assoc· March 2016

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JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles.
Anthony Mathelier, Oriol Fornes, David J Arenillas, Chih-Yu Chen, Grégoire Denay, Casper Shyr

Nucleic Acids Res· January 2016

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Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Gabriella A Horvath, Michelle Demos, Casper Shyr, Allison Matthews, Linhua Zhang

Mol Genet Metab· January 2016

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RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
Alexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, Hana Antonicka, Malak Al Ghamdi, Casper Shyr

Eur J Hum Genet· October 2015

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Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
Sandra Sirrs, Clara D M van Karnebeek, Xiaoxue Peng, Casper Shyr, Maja Tarailo-Graovac

Orphanet J Rare Dis· March 2015

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The genotypic and phenotypic spectrum of PIGA deficiency.
Maja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr

Orphanet J Rare Dis· February 2015

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FLAGS, frequently mutated genes in public exomes.
Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, Jessica J Y Lee, Clara van Karnebeek

BMC Med Genomics· December 2014

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Usability study of clinical exome analysis software: top lessons learned and recommendations.
Casper Shyr, Andre Kushniruk, Wyeth W Wasserman

J Biomed Inform· October 2014

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Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Sylvia Stockler, Silvia Corvera, David Lambright, Kevin Fogarty, Ekaterina Nosova, Casper Shyr

Orphanet J Rare Dis· September 2014

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Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Clara D van Karnebeek, William S Sly, Colin J Ross, Ramona Salvarinova, Joy Yaplito-Lee, Casper Shyr

Am J Hum Genet· March 2014

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JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles.
Anthony Mathelier, Xiaobei Zhao, Allen W Zhang, François Parcy, Rebecca Worsley-Hunt, Casper Shyr

Nucleic Acids Res· January 2014

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A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Michelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, Shelin Adam, Yaoqing Shen, Casper Shyr

Orphanet J Rare Dis· January 2014

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Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis.
Deepti Malhotra, Elodie Portales-Casamar, Anju Singh, Siddhartha Srivastava, David Arenillas, Casper Shyr

Nucleic Acids Res· September 2010

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