Area of research
Genetics · Cancer Research
Research interest
Research focused on Genetics and Smoothened, with related work in Loss function, Broad spectrum, Hedgehog. Notable publications include 'Factors influencing success of clinical genome sequencing across a broad spectrum of disorders', 'A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome', and 'Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome'.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders