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List of works by Michael Yourshaw

A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.

scientific article

Clinical exome sequencing for genetic identification of rare Mendelian disorders

scientific article

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort

scientific article published on 02 April 2013

Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus

scientific article

Functional consequences of a novel variant of PCSK1

scientific article

Loss of ADAM17 is associated with severe multiorgan dysfunction.

scientific article published on 5 March 2015

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

scientific article

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

scientific article published on 2 January 2013

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.

scientific article published on 12 March 2014

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