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Basak Rosti

Howard Hughes Medical Institute

9

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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 Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

2017 American Journal of Human Genetics
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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

2016 Human Genetics
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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

2016 American Journal of Medical Genetics Part A
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

2015 Nature Genetics
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Inactivating mutations in MFSD2A , required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

2015 Nature Genetics
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Mutations in CSPP1 lead to classical joubert syndrome

2014 American Journal of Human Genetics
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