Publications

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2021
Güngör, S. et al. Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience 24, 101948 (2021).
2020
Yaramis, A. et al. -related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet 6, e392 (2020).
Topf, A. et al. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet 28, 383-387 (2020).
2018
Ghosh, S. G. et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet 103, 431-439 (2018).