Karen A. Johnstone

A Muscleblind Knockout Model for Myotonic Dystrophy

Rahul Kanadia, Karen A. Johnstone, Ami Mankodi et al. · Science · 2003 · 748 citations

Life Sciences, Genetics, Molecular Genetics +16

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

Shazia Adalat, Adrian S. Woolf, Karen A. Johnstone et al. · Journal of the American Society of Nephrology · 2009 · 277 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Recessive mutations in the <i>INS</i> gene result in neonatal diabetes through reduced insulin biosynthesis

Intza Garin, Emma L. Edghill, İldem Akerman et al. · Proceedings of the National Academy of Sciences · 2010 · 209 citations · Full text

Medicine, Endocrinology, Genetics +17

Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Helen Sutherland, R Wadey, Judith M. McKie et al. · PubMed · 1996 · 101 citations

Life Sciences, Genetics, Molecular Genetics +11

A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects

Karen A. Johnstone, Amanda J. DuBose, Christopher R. Futtner et al. · Human Molecular Genetics · 2005 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17