| 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 | 2761 | 2014 |
| 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 | 2485 | 2012 |
| 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 | 1457 | 2012 |
| 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 | 735 | 2014 |
| 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 | 735 | 2012 |
| 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 | 695 | 2014 |
| 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 | 666 | 2015 |
| A de novo convergence of autism genetics and molecular neuroscience N Krumm, BJ O’Roak, J Shendure, EE Eichler Trends in Neurosciences, 2013 | 507 | 2013 |
| 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 | 411 | 2015 |
| Genomic data in the all of us research program Biobank, Mayo Blegen Ashley L. 18 Wirkus Samantha J. 18 Wagner Victoria A ... Nature 627 (8003), 340-346, 2024 | 208 | 2024 |
| Prioritization of neurodevelopmental disease genes by discovery of new mutations A Hoischen, N Krumm, EE Eichler Nature neuroscience 17 (6), 764-772, 2014 | 179 | 2014 |
| 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 | 171 | 2019 |
| One codex: a sensitive and accurate data platform for genomic microbial identification SS Minot, N Krumm, NB Greenfield BioRxiv, 027607, 2015 | 162 | 2015 |
| 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 | 148 | 2015 |
| 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 | 140 | 2017 |
| 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 | 131 | 2013 |
| 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 | 120 | 2013 |
| 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 | 89 | 2014 |
| 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 | 83 | 2015 |
| 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 | 69 | 2015 |