Bhaskar, Sanjeev S.

Top Publications

Top Publications Authored or Co-Authored by "Bhaskar, Sanjeev S."

• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

  Archives of Disease in Childhood, Volume 102, No. 11, Year 2017, Citations 43
• Non lethal Raine syndrome and differential diagnosis

  European Journal of Medical Genetics, Volume 59, No. 11, Year 2016, Citations 33
• Early diagosis of Werner's syndrome using exome-wide sequencingin a singe, atypical patient

  Frontiers in Endocrinology, Volume 2, No. MAR, Article Article 8, Year 2010, Citations 18