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List of works by Katherine Johnson

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

scientific article

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

scientific article published on 16 May 2018

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

scientific article published on 15 March 2017

Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].

scientific article published on 12 December 2017

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

article

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

scientific article published on 19 June 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

scientific article published on 06 July 2018

Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.

scientific article published on 7 September 2015

Increased serum miR-193a-5p during non-alcoholic fatty liver disease progression: Diagnostic and mechanistic relevance

scientific article published on 25 November 2021

Limb girdle muscular dystrophy due to mutations in POMT2.

scientific article published on 24 November 2017

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in

scientific article published on 01 April 2019

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

scientific article published on 11 June 2020

Therapeutic Potential of Shark Anti-ICOSL VNAR Domains is Exemplified in a Murine Model of Autoimmune Non-Infectious Uveitis

scientific article published on 25 September 2017

Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis

scientific article published on 01 December 2020

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