Francis H. Sansbury

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

SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion

Francis H. Sansbury, Sarah E. Flanagan, Jayne Houghton et al. · Diabetologia · 2012 · 137 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernández et al. · The American Journal of Human Genetics · 2021 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha et al. · Nature Communications · 2021 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients

Annette Karmiloff‐Smith, Hannah Broadbent, Emily K. Farran et al. · Frontiers in Psychology · 2012 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17