| De novo mutations in epileptic encephalopathies Nature 501 (7466), 217-221, 2013 | 1472* | 2013 |
| A single-cell transcriptomic atlas of human neocortical development during mid-gestation D Polioudakis, L de la Torre-Ubieta, J Langerman, AG Elkins, X Shi, ... Neuron 103 (5), 785-801. e8, 2019 | 391 | 2019 |
| Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu, K McSweeney, B Ben-Zeev, ... Genetics in Medicine 17 (10), 774-781, 2015 | 353 | 2015 |
| Inherited and de novo genetic risk for autism impacts shared networks EK Ruzzo, L Pérez-Cano, JY Jung, L Wang, D Kashef-Haghighi, C Hartl, ... Cell 178 (4), 850-866. e26, 2019 | 348 | 2019 |
| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 317 | 2014 |
| The characterization of twenty sequenced human genomes K Pelak, KV Shianna, D Ge, JM Maia, M Zhu, JP Smith, ET Cirulli, J Fellay, ... PLoS genetics 6 (9), e1001111, 2010 | 197 | 2010 |
| Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes P Feliciano, X Zhou, I Astrovskaya, TN Turner, T Wang, L Brueggeman, ... NPJ genomic medicine 4 (1), 19, 2019 | 190 | 2019 |
| Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis D Oz-Levi, B Ben-Zeev, EK Ruzzo, Y Hitomi, A Gelman, K Pelak, ... The American Journal of Human Genetics 91 (6), 1065-1072, 2012 | 177 | 2012 |
| Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy EK Ruzzo, JM Capo-Chichi, B Ben-Zeev, D Chitayat, H Mao, AL Pappas, ... Neuron 80 (2), 429-441, 2013 | 176 | 2013 |
| Using ERDS to infer copy-number variants in high-coverage genomes M Zhu, AC Need, Y Han, D Ge, JM Maia, Q Zhu, EL Heinzen, ET Cirulli, ... The American Journal of Human Genetics 91 (3), 408-421, 2012 | 161 | 2012 |
| Genetic epilepsy with febrile seizures plus: Refining the spectrum YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ... Neurology 89 (12), 1210-1219, 2017 | 147 | 2017 |
| Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy EL Heinzen, C Depondt, GL Cavalleri, EK Ruzzo, NM Walley, AC Need, ... The American Journal of Human Genetics 91 (2), 293-302, 2012 | 138 | 2012 |
| SVA: software for annotating and visualizing sequenced human genomes D Ge, EK Ruzzo, KV Shianna, M He, K Pelak, EL Heinzen, AC Need, ... Bioinformatics 27 (14), 1998-2000, 2011 | 85 | 2011 |
| 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 | 81 | 2015 |
| SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy MC Hannibal, EK Ruzzo, LR Miller, B Betz, JG Buchan, DM Knutzen, ... Neurology 72 (20), 1755-1759, 2009 | 72 | 2009 |
| SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum G Heimer, D Marek‐Yagel, E Eyal, O Barel, D Oz Levi, C Hoffmann, ... Clinical genetics 88 (4), 327-335, 2015 | 58 | 2015 |
| Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy AMB Collie, ML Landsverk, E Ruzzo, HC Mefford, K Buysse, JR Adkins, ... Journal of medical genetics 47 (9), 601-607, 2010 | 53 | 2010 |
| TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability G Heimer, D Oz-Levi, E Eyal, S Edvardson, A Nissenkorn, EK Ruzzo, ... European Journal of Paediatric Neurology 20 (1), 69-79, 2016 | 50 | 2016 |
| Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin G Heimer, E Eyal, X Zhu, EK Ruzzo, D Marek-Yagel, D Sagiv, Y Anikster, ... european journal of paediatric neurology 22 (1), 93-101, 2018 | 49 | 2018 |
| Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy ML Landsverk, EK Ruzzo, HC Mefford, K Buysse, JG Buchan, EE Eichler, ... Human molecular genetics 18 (7), 1200-1208, 2009 | 36 | 2009 |
Kim PelakDuke UniversityVerified email at duke.edu
