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Gifty Bhat

Howard Hughes Medical Institute

3

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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

2018 Journal of Medical Genetics
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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

2017 Journal of Medical Genetics
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PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

2016 Annals of Neurology
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