Heather Moore-Barton

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

David A. Koolen, Jamie M. Kramer, Kornelia Neveling et al. · Nature Genetics · 2012 · 241 citations

Life Sciences, Genetics, Molecular Genetics +13

SLITRK6 mutations cause myopia and deafness in humans and mice

Mustafa Tekin, Barry A. Chioza, Yoshifumi Matsumoto et al. · Journal of Clinical Investigation · 2013 · 68 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Further delineation of the KAT6B molecular and phenotypic spectrum

Tamsin Gannon, Rahat Perveen, Hélene Schlecht et al. · European Journal of Human Genetics · 2014 · 65 citations · Full text

Life Sciences, Genetics, Molecular Biology +3

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

Gaurav V. Harlalka, Meriel McEntagart, Neerja Gupta et al. · Human Mutation · 2016 · 26 citations

Life Sciences, Genetics, Neurology +17