| Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA MC Liu, GR Oxnard, EA Klein, C Swanton, MV Seiden, MC Liu, ... Annals of Oncology 31 (6), 745-759, 2020 | 1169 | 2020 |
| De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly JH Lee, JL Silhavy, S Kim, T Dixon-Salazar, A Heiberg, E Scott, V Bafna, ... Nature genetics, 2012 | 734 | 2012 |
| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 588 | 2014 |
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 381 | 2016 |
| Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy G Novarino, P El-Fishawy, H Kayserili, NA Meguid, EM Scott, J Schroth, ... Science 338 (6105), 394-397, 2012 | 352 | 2012 |
| The mutation significance cutoff: gene-level thresholds for variant predictions Y Itan, L Shang, B Boisson, MJ Ciancanelli, JG Markle, ... Nature methods 13 (2), 109-110, 2016 | 331 | 2016 |
| CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 289 | 2014 |
| The human gene damage index as a gene-level approach to prioritizing exome variants Y Itan, L Shang, B Boisson, E Patin, A Bolze, M Moncada-Vélez, E Scott, ... Proceedings of the National Academy of Sciences 112 (44), 13615-13620, 2015 | 273 | 2015 |
| Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ... Nature genetics 47 (7), 809-813, 2015 | 242 | 2015 |
| Evaluation of cell-free DNA approaches for multi-cancer early detection A Jamshidi, MC Liu, EA Klein, O Venn, E Hubbell, JF Beausang, S Gross, ... Cancer Cell 40 (12), 1537-1549. e12, 2022 | 183 | 2022 |
| Error correction of high-throughput sequencing datasets with non-uniform coverage P Medvedev, E Scott, B Kakaradov, P Pevzner Bioinformatics 27 (13), i137-i141, 2011 | 170 | 2011 |
| Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 146 | 2015 |
| AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder N Akizu, V Cantagrel, J Schroth, N Cai, K Vaux, D McCloskey, ... Cell 154 (3), 505-517, 2013 | 119 | 2013 |
| Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ... Nature genetics 49 (3), 457-464, 2017 | 101 | 2017 |
| Mutations in CSPP1 lead to classical Joubert syndrome N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ... The American Journal of Human Genetics 94 (1), 80-86, 2014 | 98 | 2014 |
| Virmid: accurate detection of somatic mutations with sample impurity inference S Kim, K Jeong, K Bhutani, JH Lee, A Patel, E Scott, H Nam, H Lee, ... Genome biology 14, 1-17, 2013 | 89 | 2013 |
| Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome S Roosing, M Hofree, S Kim, E Scott, B Copeland, M Romani, JL Silhavy, ... Elife 4, e06602, 2015 | 88 | 2015 |
| Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders L Travaglini, F Brancati, J Silhavy, M Iannicelli, E Nickerson, N Elkhartoufi, ... European Journal of Human Genetics 21 (10), 1074-1078, 2013 | 88 | 2013 |
| Biallelic mutations in citron kinase link mitotic cytokinesis to human primary microcephaly H Li, SL Bielas, MS Zaki, S Ismail, D Farfara, K Um, RO Rosti, EC Scott, ... The American Journal of Human Genetics 99 (2), 501-510, 2016 | 86 | 2016 |
| Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration AE Schaffer, MW Breuss, AO Caglayan, N Al-Sanaa, HY Al-Abdulwahed, ... Nature genetics 50 (8), 1093-1101, 2018 | 82 | 2018 |
Joseph G. GleesonUniversity of California, San DiegoPatvirtintas el. paštas ucsd.edu
