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Gordon J. Johnson

Memorial University of Newfoundland

10

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190

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A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

2020 Scientific Reports
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Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

2017 Investigative Ophthalmology & Visual Science
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Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

2013 Ophthalmic Genetics
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A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

2011 European Journal of Human Genetics
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Immunoglobulin concentration and Gm allotypes in a family with thirty‐three cases of myotonic dystrophy

2008 Clinical Genetics
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Additions to the myotonic dystrophy linkage group.

2008 Clinical Genetics
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Citations (2)
PREVALENCE AND SEVERITY OF XEROPHTHALMIA IN SOUTHERN MALAWI

1986 American Journal of Epidemiology
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The burden of genetically determined eye disease.

1986 British Journal of Ophthalmology
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Theburden ofgenetically determined eyedisease

1986
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Incomplete manifestations of myotonic dystrophy in a large kinship in labrador

1982 Annals of Neurology
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Citations (23)