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Niklas Krumm
Niklas Krumm
University of Washington - Department of Laboratory Medicine
Verified email at uw.edu
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Cited by
Year
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), 246-250, 2012
22002012
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), 216-221, 2014
21402014
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
12592012
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
6192012
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
5792014
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), 1063-1071, 2014
5392014
Excess of rare, inherited truncating mutations in autism
N Krumm, TN Turner, C Baker, L Vives, K Mohajeri, K Witherspoon, ...
Nature genetics 47 (6), 582-588, 2015
5322015
A de novo convergence of autism genetics and molecular neuroscience
N Krumm, BJ O’Roak, J Shendure, EE Eichler
Trends in Neurosciences, 2013
4372013
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
3432015
Prioritization of neurodevelopmental disease genes by discovery of new mutations
A Hoischen, N Krumm, EE Eichler
Nature neuroscience 17 (6), 764-772, 2014
1622014
One codex: a sensitive and accurate data platform for genomic microbial identification
SS Minot, N Krumm, NB Greenfield
BioRxiv, 027607, 2015
1242015
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
1192015
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, 2017
1112017
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
1102013
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
1102013
Molecular genetic anatomy and risk profile of Hirschsprung’s disease
JM Tilghman, AY Ling, TN Turner, MX Sosa, N Krumm, S Chatterjee, ...
New England Journal of Medicine 380 (15), 1421-1432, 2019
1062019
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
732014
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
712015
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
602015
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
482013
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