Katherine C. MacKenzie

Structure/Function Analysis of the Phosphatidylinositol-3-Kinase Domain of Yeast Tra1

A Muţiu, Stephen M. T. Hoke, Julie Genereaux et al. · Genetics · 2007 · 37 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes

Duco Schriemer, Yunia Sribudiani, Arne IJpma et al. · Developmental Biology · 2016 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Human Enteric Glia Diversity in Health and Disease: New Avenues for the Treatment of Hirschsprung Disease

Jonathan D. Windster, Naomi Kakiailatu, Laura E. Kuil et al. · Gastroenterology · 2024 · 27 citations · Full text

Medicine, Neurobiology, Neuroscience +17

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development

Laura E. Kuil, Katherine C. MacKenzie, Clara Sze-Man Tang et al. · PLoS Genetics · 2021 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Katherine C. MacKenzie, Bianca M. de Graaf, Andreas Syrimis et al. · Human Mutation · 2020 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14