Jenny E.V. Morton

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton et al. · Nature Genetics · 2006 · 538 citations · Full text

Life Sciences, Neurology, Neuroscience +8

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee et al. · The American Journal of Human Genetics · 2007 · 270 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Phenotypic spectrum of neurodegeneration associated with mutations in the <i>PLA2G6</i> gene (PLAN)

Manju A. Kurian, Neil V. Morgan, Lesley MacPherson et al. · Neurology · 2008 · 240 citations

Life Sciences, Genetics, Neurology +13

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon et al. · European Journal of Human Genetics · 2011 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11