Ghosh, Shereen Georges

Top Publications

Top Publications Authored or Co-Authored by "Ghosh, Shereen Georges"

• A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

  European Journal of Human Genetics, Volume 29, No. 2, Year 2021, Citations 46
• Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

  Nature Communications, Volume 11, No. 1, Article 4038, Year 2020, Citations 42
• Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

  American Journal of Human Genetics, Volume 103, No. 3, Year 2018, Citations 39
• Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

  Proceedings of the National Academy of Sciences of the United States of America, Volume 117, No. 18, Year 2020, Citations 34
• Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

  Genetics in Medicine, Volume 23, No. 3, Year 2021, Citations 30