Michael T. Gabbett

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Cas Simons, Lachlan D. Rash, Joanna Crawford et al. · Nature Genetics · 2014 · 158 citations

Life Sciences, Genetics, Molecular Genetics +10

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Irina Zaharieva, Michael G. Thor, Emily C. Oates et al. · Brain · 2015 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Stefano Vavassori, Janet Chou, Laura Faletti et al. · Journal of Allergy and Clinical Immunology · 2021 · 87 citations · Full text

Veterinary Medicine, Immunology, Infectious Diseases +16