Kini, Usha

Top Publications

Top Publications Authored or Co-Authored by "Kini, Usha"

• The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

  Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013, Citations 68
• Genotype-phenotype analysis of the branchio-oculo-facial syndrome

  American Journal of Medical Genetics, Part A, Volume 155, No. 1, Year 2011, Citations 67
• Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

  Human Mutation, Volume 42, No. 6, Year 2021, Citations 50
• The clinical presentation caused by truncating CHD8 variants

  Clinical Genetics, Volume 96, No. 1, Year 2019, Citations 32