Kabra, Madhulika

Top Publications

Top Publications Authored or Co-Authored by "Kabra, Madhulika"

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Mutations in CSPP1 lead to classical joubert syndrome

  American Journal of Human Genetics, Volume 94, No. 1, Year 2014, Citations 78
• Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease

  American Journal of Hematology, Volume 88, No. 3, Year 2013, Citations 57
• Natural history of non-lethal Raine syndrome during childhood

  Orphanet Journal of Rare Diseases, Volume 15, No. 1, Article 93, Year 2020, Citations 16
• A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

  Genetics in Medicine, Volume 24, No. 10, Year 2022, Citations 1