Kati J. Buckingham
University of Washington(US)University of Washington Medical Center(US)Genetic Resources Center(JP)Genetic Technologies (Australia)(AU)Research Institute for Genetic and Human Therapy(US)Genetic Analysis (Norway)(NO)
Publications by Year
Research Areas
Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research, Glycosylation and Glycoproteins Research, Cystic Fibrosis Research Advances, RNA modifications and cancer
Most-Cited Works
- → Exome sequencing identifies the cause of a mendelian disorder(2009)1,933 cited
- → Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome(2010)1,346 cited
- → The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities(2015)685 cited
- → Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome(2012)225 cited
- → Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5(2014)214 cited
- → Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome(2011)194 cited