Kali Witherspoon
University of Washington(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → The contribution of de novo coding mutations to autism spectrum disorder(2014)2,750 cited
- → Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development(2014)800 cited
- → Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
- → Excess of rare, inherited truncating mutations in autism(2015)628 cited
- → A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP(2014)370 cited
- → Recurrent de novo mutations implicate novel genes underlying simplex autism risk(2014)347 cited
- → Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID(2015)206 cited
- → A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency(2017)57 cited