| Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ... The American Journal of Human Genetics 98 (6), 1067-1076, 2016 | 601 | 2016 |
| Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ... The American Journal of Human Genetics 100 (6), 895-906, 2017 | 449 | 2017 |
| Chromosome-scale selective sweeps shape Caenorhabditis elegans genomic diversity EC Andersen, JP Gerke, JA Shapiro, JR Crissman, R Ghosh, JS Bloom, ... Nature genetics 44 (3), 285-290, 2012 | 433 | 2012 |
| Clinical validity of genes for heritable thoracic aortic aneurysm and dissection M Renard, C Francis, R Ghosh, AF Scott, PD Witmer, LC Adès, ... Journal of the American College of Cardiology 72 (6), 605-615, 2018 | 235 | 2018 |
| Mate searching in Caenorhabditis elegans: a genetic model for sex drive in a simple invertebrate J Lipton, G Kleemann, R Ghosh, R Lints, SW Emmons Journal of Neuroscience 24 (34), 7427-7434, 2004 | 226 | 2004 |
| Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines R Ghosh, N Oak, S Plon Genome Biology 18 (225), 2017 | 224 | 2017 |
| Natural variation in a chloride channel subunit confers avermectin resistance in C. elegans R Ghosh, EC Andersen, JA Shapiro, JP Gerke, L Kruglyak Science 335 (6068), 574, 2012 | 197 | 2012 |
| Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants K Lee, K Krempely, ME Roberts, MJ Anderson, F Carneiro, E Chao, ... Human mutation 39 (11), 1553-1568, 2018 | 158 | 2018 |
| Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel JL Mester, R Ghosh, T Pesaran, R Huether, R Karam, KS Hruska, ... Human mutation 39 (11), 1581-1592, 2018 | 150 | 2018 |
| Eukaryotic translation initiation factor 5 functions as a GTPase-activating protein S Das, R Ghosh, U Maitra Journal of Biological Chemistry 276 (9), 6720-6726, 2001 | 134 | 2001 |
| Updated recommendation for the benign stand‐alone ACMG/AMP criterion R Ghosh, SM Harrison, HL Rehm, SE Plon, LG Biesecker, ... Human mutation 39 (11), 1525-1530, 2018 | 130 | 2018 |
| 1 neuropeptide signaling modulates a neural circuit for mate-searching behavior in C. elegans A Barrios, R Ghosh, C Fang, SW Emmons, MM Barr Nature neuroscience 15 (12), 1675-1682, 2012 | 118 | 2012 |
| A Powerful New Quantitative Genetics Platform, Combining Caenorhabditis elegans High-Throughput Fitness Assays with a Large Collection of Recombinant Strains EC Andersen, TC Shimko, JR Crissman, R Ghosh, JS Bloom, HS Seidel, ... G3: Genes, Genomes, Genetics 5 (5), 911-920, 2015 | 112 | 2015 |
| Episodic swimming behavior in the nematode C. elegans R Ghosh, SW Emmons Journal of Experimental Biology 211 (23), 3703-3711, 2008 | 101 | 2008 |
| Full-genome evolutionary histories of selfing, splitting, and selection in Caenorhabditis C Thomas, W Wang, R Jovelin, R Ghosh, T Lomasko, Q Trinh, L Kruglyak, ... Genome Research, 2015 | 89 | 2015 |
| A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing Y Cao, MJ Tokita, ES Chen, R Ghosh, T Chen, Y Feng, E Gorman, ... Genome Medicine 11, 1-11, 2019 | 67 | 2019 |
| ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants RY Patel, N Shah, AR Jackson, R Ghosh, P Pawliczek, S Paithankar, ... Genome Medicine 9, 1-9, 2017 | 67 | 2017 |
| Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels K Lee, BA Seifert, H Shimelis, R Ghosh, SB Crowley, NJ Carter, ... Genetics in Medicine 21 (7), 1497-1506, 2019 | 65 | 2019 |
| Multiparameter behavioral profiling reveals distinct thermal response regimes in Caenorhabditis elegans R Ghosh, A Mohammadi, L Kruglyak, WS Ryu BMC biology 10, 1-17, 2012 | 57 | 2012 |
| Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases Genome Medicine 11 (30), 2019 | 51 | 2019 |
