Niklas Krumm
Niklas Krumm
University of Washington - Department of Laboratory Medicine
Verified email at uw.edu
TitleCited byYear
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...
Nature 485 (7397), 246, 2012
16062012
The contribution of de novo coding mutations to autism spectrum disorder
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
Nature 515 (7526), 216, 2014
10972014
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
8542012
Copy number variation detection and genotyping from exome sequence data
N Krumm, PH Sudmant, A Ko, BJ O'Roak, M Malig, BP Coe, AR Quinlan, ...
Genome research 22 (8), 1525-1532, 2012
3932012
A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders
S Jacquemont, BP Coe, M Hersch, MH Duyzend, N Krumm, S Bergmann, ...
The American Journal of Human Genetics 94 (3), 415-425, 2014
3142014
A de novo convergence of autism genetics and molecular neuroscience
N Krumm, BJ O’Roak, J Shendure, EE Eichler
Trends in Neurosciences, 2013
3022013
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063, 2014
3002014
Excess of rare, inherited truncating mutations in autism
N Krumm, TN Turner, C Baker, L Vives, K Mohajeri, K Witherspoon, ...
Nature genetics 47 (6), 582, 2015
2592015
Global diversity, population stratification, and selection of human copy-number variation
PH Sudmant, S Mallick, BJ Nelson, F Hormozdiari, N Krumm, ...
Science 349 (6253), aab3761, 2015
1942015
Prioritization of neurodevelopmental disease genes by discovery of new mutations
A Hoischen, N Krumm, EE Eichler
Nature neuroscience 17 (6), 764, 2014
1152014
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy
N Norton, D Li, E Rampersaud, A Morales, ER Martin, S Zuchner, S Guo, ...
Circulation: Cardiovascular Genetics 6 (2), 144-153, 2013
812013
Transmission disequilibrium of small CNVs in simplex autism
N Krumm, BJ O’Roak, E Karakoc, K Mohajeri, B Nelson, L Vives, ...
The American Journal of Human Genetics 93 (4), 595-606, 2013
752013
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ...
The American Journal of Human Genetics 96 (3), 462-473, 2015
742015
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data
Z He, BJ O’Roak, JD Smith, G Wang, S Hooker, RLP Santos-Cortez, B Li, ...
The American Journal of Human Genetics 94 (1), 33-46, 2014
532014
One codex: a sensitive and accurate data platform for genomic microbial identification
SS Minot, N Krumm, NB Greenfield
BioRxiv, 027607, 2015
462015
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
Epilepsy Phenome/Genome Project & Epi4K Consortium, AS Allen, ...
Annals of neurology 78 (2), 323-328, 2015
362015
Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia
C Rippey, T Walsh, S Gulsuner, M Brodsky, AS Nord, M Gasperini, ...
The American Journal of Human Genetics 93 (4), 697-710, 2013
352013
Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3
JX Chong, LC Burrage, AE Beck, CT Marvin, MJ McMillin, KM Shively, ...
The American Journal of Human Genetics 96 (5), 841-849, 2015
322015
denovo-db: a compendium of human de novo variants
TN Turner, Q Yi, N Krumm, J Huddleston, K Hoekzema, HA F. Stessman, ...
Nucleic acids research 45 (D1), D804-D811, 2016
262016
Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma
CD Campbell, K Mohajeri, M Malig, F Hormozdiari, B Nelson, G Du, ...
PLoS One 9 (8), e104396, 2014
222014
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