A structural variation reference for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ... Nature 581 (7809), 444-451, 2020 | 823* | 2020 |
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ... Nature genetics 54 (9), 1320-1331, 2022 | 260* | 2022 |
A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 172 | 2022 |
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies X Zhao, RL Collins, WP Lee, AM Weber, Y Jun, Q Zhu, B Weisburd, ... The American Journal of Human Genetics 108 (5), 919-928, 2021 | 94 | 2021 |
Activity-dependent degradation of the nascentome by the neuronal membrane proteasome KV Ramachandran, JM Fu, TB Schaffer, CH Na, M Delannoy, SS Margolis Molecular cell 71 (1), 169-177. e6, 2018 | 76 | 2018 |
The female protective effect against autism spectrum disorder EM Wigdor, DJ Weiner, J Grove, JM Fu, WK Thompson, CE Carey, ... Cell Genomics 2 (6), 2022 | 59 | 2022 |
Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 52 | 2022 |
Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD S Hu, AV Vila, R Gacesa, V Collij, C Stevens, JM Fu, I Wong, ... Gut 70 (2), 285-296, 2021 | 48 | 2021 |
Ballgown: flexible, isoform-level differential expression analysis J Fu, AC Frazee, L Collado-Torres, AE Jaffe, JT Leek R package version 2 (0), 2018 | 40* | 2018 |
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data M Babadi, JM Fu, SK Lee, AN Smirnov, LD Gauthier, M Walker, ... Nature genetics 55 (9), 1589-1597, 2023 | 31* | 2023 |
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder B Mahjani, S De Rubeis, C Gustavsson Mahjani, M Mulhern, X Xu, L Klei, ... Molecular autism 12, 1-12, 2021 | 29 | 2021 |
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders AM Valencia, A Sankar, PJ van der Sluijs, FK Satterstrom, J Fu, ... Nature Genetics 55 (8), 1400-1412, 2023 | 23 | 2023 |
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p DJ Weiner, E Ling, S Erdin, DJC Tai, R Yadav, J Grove, JM Fu, A Nadig, ... Nature genetics 54 (11), 1630-1639, 2022 | 20 | 2022 |
Developmental variability in autism across 17 000 autistic individuals and 4000 siblings without an autism diagnosis: comparisons by cohort, intellectual disability, genetic … SS Kuo, C van der Merwe, JM Fu, CE Carey, ME Talkowski, SL Bishop, ... JAMA pediatrics 176 (9), 915-923, 2022 | 16 | 2022 |
Whole exome association of rare deletions in multiplex oral cleft families J Fu, TH Beaty, AF Scott, J Hetmanski, MM Parker, JEB Wilson, ... Genetic epidemiology 41 (1), 61-69, 2017 | 15 | 2017 |
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ... The American Journal of Human Genetics 110 (9), 1454-1469, 2023 | 14* | 2023 |
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries E Collaborative, S Chen, BM Neale, SF Berkovic medRxiv, 2023 | 9 | 2023 |
Detection of rare disease variants in extended pedigrees using RVS T Sherman, J Fu, RB Scharpf, A Bureau, I Ruczinski Bioinformatics 35 (14), 2509-2511, 2019 | 6 | 2019 |
RNA-seq transcript quantification from reduced-representation data in recount2 JM Fu, K Kammers, A Nellore, L Collado-Torres, JT Leek, MA Taub BioRxiv, 247346, 2018 | 5 | 2018 |
Genome Sequencing for Diagnosing Rare Diseases MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ... New England Journal of Medicine 390 (21), 1985-1997, 2024 | 4* | 2024 |