Concepedia

Kati J. Buckingham

KJ

Statistics

Publications

35

Citations

5.5K

H-Index

25

Active since

2005

Affiliations

University of Washington(Current)

Seattle Children's Hospital

Sanford Burnham Prebys Medical Discovery Institute

Brotman Baty Institute

Howard Hughes Medical Institute

Kati J. Buckingham is an author at University of Washington specializing in genetics, life sciences, and molecular genetics.

Publications per year

2005–2025

35

Publications

35

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

, , +8

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.4K citations · Full text

, , +11

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

François P. Bernier, Oana Caluseriu, Sarah Ng et al. · The American Journal of Human Genetics · 2012 · 227 citations · Full text

, , +11

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong et al. · The American Journal of Human Genetics · 2014 · 218 citations · Full text

, , +4

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Leslie A. Lange, Youna Hu, He Zhang et al. · The American Journal of Human Genetics · 2014 · 217 citations · Full text

, , +16

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