Mohammed, Shehla Nilofer

Top Publications

Top Publications Authored or Co-Authored by "Mohammed, Shehla Nilofer"

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

  Brain, Volume 139, No. 3, Year 2016, Citations 100
• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

  Nature Communications, Volume 14, No. 1, Article 4109, Year 2023, Citations 100
• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 97