Kathreen Johnston

Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation

Birgitt Schüle, Angélica Oviedo, Kathreen Johnston et al. · The American Journal of Human Genetics · 2005 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen et al. · European Journal of Human Genetics · 2009 · 109 citations · Full text

Medicine, Ophthalmology, Psychiatry +12

Two 22q telomere deletions serendipitously detected by FISH.

Kathrin S. Precht, Christa M. Lese, Rhonda Spiro et al. · Journal of Medical Genetics · 1998 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Ghayda Mirzaa, Valerio Conti, Andrew E. Timms et al. · The Lancet Neurology · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

Joseph Ndika, Kathreen Johnston, James Barkovich et al. · Molecular Genetics and Metabolism · 2012 · 41 citations

Life Sciences, Pharmacology, Pediatric Therapeutics +10