Deshpande, Charu Mahesh

Top Publications

Top Publications Authored or Co-Authored by "Deshpande, Charu Mahesh"

• Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

  American Journal of Human Genetics, Volume 90, No. 1, Year 2012, Citations 244
• Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

  Investigative Ophthalmology and Visual Science, Volume 58, No. 7, Year 2017, Citations 100
• Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

  npj Parkinson's Disease, Volume 5, No. 1, Article 8, Year 2019, Citations 99
• Developmental consequences of defective Atg7-mediated autophagy in humans

  New England Journal of Medicine, Volume 384, No. 25, Year 2021, Citations 70
• Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

  PLoS Genetics, Volume 13, No. 3, Article e1006683, Year 2017, Citations 46