Publications by authors named "Kali Witherspoon"

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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Sandra Jansen, Alexander Hoischen, Bradley P Coe, Gemma L Carvill, Hilde Van Esch, Kali Witherspoon

Eur J Hum Genet· January 2018

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Excess of rare, inherited truncating mutations in autism.
Niklas Krumm, Tychele N Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon

Nat Genet· June 2015

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The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Kali T Witherspoon

Nature· November 2014

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Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout

Nat Genet· October 2014

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Disruptive CHD8 mutations define a subtype of autism early in development.
Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A Stessman, Bradley P Coe, Kali Witherspoon

Cell· July 2014

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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Céline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, Geert Vandeweyer, Liesbeth Rooms, Kali T Witherspoon

Nat Genet· April 2014

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