| Year |
Citation |
Score |
| 2019 |
Tilghman JM, Ling AY, Turner TN, Sosa MX, Krumm N, Chatterjee S, Kapoor A, Coe BP, Nguyen KH, Gupta N, Gabriel S, Eichler EE, Berrios C, Chakravarti A. Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. The New England Journal of Medicine. 380: 1421-1432. PMID 30970187 DOI: 10.1056/NEJMoa1706594 |
0.654 |
|
| 2016 |
Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EE. denovo-db: a compendium of human de novo variants. Nucleic Acids Research. PMID 27907889 DOI: 10.1093/Nar/Gkw865 |
0.563 |
|
| 2015 |
Sudmant PH, Mallick S, Nelson BJ, Hormozdiari F, Krumm N, Huddleston J, Coe BP, Baker C, Nordenfelt S, Bamshad M, Jorde LB, Posukh OL, Sahakyan H, Watkins WS, Yepiskoposyan L, et al. Global diversity, population stratification, and selection of human copy number variation. Science (New York, N.Y.). PMID 26249230 DOI: 10.1126/Science.Aab3761 |
0.729 |
|
| 2015 |
Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE. Excess of rare, inherited truncating mutations in autism. Nature Genetics. 47: 582-8. PMID 25961944 DOI: 10.1038/Ng.3303 |
0.723 |
|
| 2014 |
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/Nature13908 |
0.771 |
|
| 2014 |
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics. 46: 1063-71. PMID 25217958 DOI: 10.1038/Ng.3092 |
0.777 |
|
| 2014 |
Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, et al. Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. Plos One. 9: e104396. PMID 25116239 DOI: 10.1371/Journal.Pone.0104396 |
0.778 |
|
| 2014 |
Hoischen A, Krumm N, Eichler EE. Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nature Neuroscience. 17: 764-72. PMID 24866042 DOI: 10.1038/nn.3703 |
0.619 |
|
| 2014 |
Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. American Journal of Human Genetics. 94: 415-25. PMID 24581740 DOI: 10.1016/j.ajhg.2014.02.001 |
0.76 |
|
| 2014 |
Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends in Neurosciences. 37: 95-105. PMID 24387789 DOI: 10.1016/J.Tins.2013.11.005 |
0.725 |
|
| 2014 |
He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. American Journal of Human Genetics. 94: 33-46. PMID 24360806 DOI: 10.1016/J.Ajhg.2013.11.021 |
0.737 |
|
| 2013 |
Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King MC. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. American Journal of Human Genetics. 93: 697-710. PMID 24094746 DOI: 10.1016/J.Ajhg.2013.09.004 |
0.587 |
|
| 2013 |
Krumm N, O'Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE. Transmission disequilibrium of small CNVs in simplex autism. American Journal of Human Genetics. 93: 595-606. PMID 24035194 DOI: 10.1016/J.Ajhg.2013.07.024 |
0.792 |
|
| 2013 |
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circulation. Cardiovascular Genetics. 6: 144-53. PMID 23418287 DOI: 10.1161/Circgenetics.111.000062 |
0.455 |
|
| 2012 |
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, ... Krumm N, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/Science.1227764 |
0.792 |
|
| 2012 |
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. Copy number variation detection and genotyping from exome sequence data. Genome Research. 22: 1525-32. PMID 22585873 DOI: 10.1101/Gr.138115.112 |
0.761 |
|
| 2012 |
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 485: 246-50. PMID 22495309 DOI: 10.1038/Nature10989 |
0.747 |
|
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