Shereen G. Ghosh

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Shereen G. Ghosh, Kerstin Becker, He Huang et al. · The American Journal of Human Genetics · 2018 · 89 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +14

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Lu Wang, Zhen Li, David Sievert et al. · Nature Communications · 2020 · 87 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

Wendy Wenderski, Lu Wang, A. Krokhotin et al. · Proceedings of the National Academy of Sciences · 2020 · 67 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

Hana Hanzlíková, Evgeniia Prokhorova, Kateřina Krejčíková et al. · Nature Communications · 2020 · 45 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Shereen G. Ghosh, Sangmoon Lee, Rudy Fabunan et al. · Genetics in Medicine · 2020 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16