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List of works by Kristin K McDonald

CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

scientific article published on 8 February 2018

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

scientific article published on 01 October 2018

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

scientific article

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia

scientific article published on 11 March 2013

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

article

Experimental cerebral malaria develops independently of endothelial expression of intercellular adhesion molecule-1 (icam-1).

scientific article published on 14 March 2013

Expression of a single ICAM-1 isoform on T cells is sufficient for development of experimental autoimmune encephalomyelitis

scientific article published on 11 February 2014

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

scientific article

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

scientific article

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

scientific article published on 26 May 2016

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

scientific article

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

scientific article

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