List of works - Casper Shyr

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

scientific article published on 28 January 2014

Correction to: FLAGS, frequently mutated genes in public exomes

scientific article published on 29 November 2017

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

scientific article published on 28 March 2015

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

scientific article

Exome sequencing pilot study in children with carbamazepine-induced serious skin reactions

scientific article

FLAGS, frequently mutated genes in public exomes

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 13 February 2014

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

scientific article published on January 2017

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

scientific article

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

scientific article published on 17 November 2015

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

scientific article

The genotypic and phenotypic spectrum of PIGA deficiency

scientific article

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

scientific article published on 24 May 2014

List of works by Casper Shyr

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Correction to: FLAGS, frequently mutated genes in public exomes

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

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

Exome sequencing pilot study in children with carbamazepine-induced serious skin reactions

FLAGS, frequently mutated genes in public exomes

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

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

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

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

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

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

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

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

The genotypic and phenotypic spectrum of PIGA deficiency

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