Nik Krumm, M.D., Ph.D.
Affiliations: | Genome Sciences | University of Washington, Seattle, Seattle, WA |
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"Nik Krumm"Parents
Sign in to add mentor| Evan Eichler | grad student | 2010-2014 | University of Washington | |
| (Genetic etiologies of Autism Spectrum Disorder.) | ||||
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| Tilghman JM, Ling AY, Turner TN, et al. (2019) Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. The New England Journal of Medicine. 380: 1421-1432 |
| Turner TN, Yi Q, Krumm N, et al. (2016) denovo-db: a compendium of human de novo variants. Nucleic Acids Research |
| Sudmant PH, Mallick S, Nelson BJ, et al. (2015) Global diversity, population stratification, and selection of human copy number variation. Science (New York, N.Y.) |
| Krumm N, Turner TN, Baker C, et al. (2015) Excess of rare, inherited truncating mutations in autism. Nature Genetics. 47: 582-8 |
| Iossifov I, O'Roak BJ, Sanders SJ, et al. (2014) The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21 |
| Coe BP, Witherspoon K, Rosenfeld JA, et al. (2014) Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics. 46: 1063-71 |
| Campbell CD, Mohajeri K, Malig M, et al. (2014) Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. Plos One. 9: e104396 |
| Hoischen A, Krumm N, Eichler EE. (2014) Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nature Neuroscience. 17: 764-72 |
| Jacquemont S, Coe BP, Hersch M, et al. (2014) A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. American Journal of Human Genetics. 94: 415-25 |
| Krumm N, O'Roak BJ, Shendure J, et al. (2014) A de novo convergence of autism genetics and molecular neuroscience. Trends in Neurosciences. 37: 95-105 |