I. Karen Temple

Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Anna L. Gloyn, Ewan R. Pearson, Jennifer F. Antcliff et al. · New England Journal of Medicine · 2004 · 1.1K citations

Medicine, Endocrinology, Molecular Genetics +17

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Deborah Mackay, Jonathan L A Callaway, Sophie M Marks et al. · Nature Genetics · 2008 · 538 citations

Medicine, Genetics, Molecular Genetics +12

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 436 citations

Life Sciences, Genetics, Molecular Genetics +10

Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases

Margaret Elliott, R. J. Bayly, I. Karen Temple et al. · Clinical Genetics · 1994 · 422 citations

Medicine, Obstetrics, Pediatrics +15