| Dynamic DNA methylation across diverse human cell lines and tissues KE Varley, J Gertz, KM Bowling, SL Parker, TE Reddy, F Pauli-Behn, ... Genome research 23 (3), 555-567, 2013 | 789 | 2013 |
| 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 | 599 | 2016 |
| Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation J Gertz, KE Varley, TE Reddy, KM Bowling, F Pauli, SL Parker, KS Kucera, ... PLoS genetics 7 (8), e1002228, 2011 | 348 | 2011 |
| Genomic diagnosis for children with intellectual disability and/or developmental delay KM Bowling, ML Thompson, MD Amaral, CR Finnila, SM Hiatt, KL Engel, ... Genome medicine 9, 1-11, 2017 | 225 | 2017 |
| Interaction of genetic and environmental factors in a Drosophila parkinsonism model A Chaudhuri, K Bowling, C Funderburk, H Lawal, A Inamdar, Z Wang, ... Journal of Neuroscience 27 (10), 2457-2467, 2007 | 220 | 2007 |
| Post-mortem molecular profiling of three psychiatric disorders RC Ramaker, KM Bowling, BN Lasseigne, MH Hagenauer, AA Hardigan, ... Genome medicine 9, 1-12, 2017 | 169 | 2017 |
| Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ... The American Journal of Human Genetics 98 (6), 1051-1066, 2016 | 169 | 2016 |
| Recurrent read-through fusion transcripts in breast cancer KE Varley, J Gertz, BS Roberts, NS Davis, KM Bowling, MK Kirby, ... Breast cancer research and treatment 146, 287-297, 2014 | 168 | 2014 |
| Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy RS Møller, S Weckhuysen, M Chipaux, E Marsan, V Taly, EM Bebin, ... Neurology: Genetics 2 (6), e118, 2016 | 151 | 2016 |
| Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study MR Hart, BB Biesecker, CL Blout, KD Christensen, LM Amendola, ... Genetics in Medicine 21 (5), 1100-1110, 2019 | 145 | 2019 |
| Whole-exome sequencing in familial Parkinson disease JL Farlow, LA Robak, K Hetrick, K Bowling, E Boerwinkle, ... JAMA neurology 73 (1), 68-75, 2016 | 80 | 2016 |
| Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ... The American Journal of Human Genetics 100 (1), 117-127, 2017 | 73 | 2017 |
| A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories JM O’Daniel, HM McLaughlin, LM Amendola, SJ Bale, JS Berg, D Bick, ... Genetics in Medicine 19 (5), 575-582, 2017 | 71 | 2017 |
| De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder L Snijders Blok, SM Hiatt, KM Bowling, JW Prokop, KL Engel, JN Cochran, ... Human genetics 137, 375-388, 2018 | 65 | 2018 |
| Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies LM Amendola, K Muenzen, LG Biesecker, KM Bowling, GM Cooper, ... The American Journal of Human Genetics 107 (5), 932-941, 2020 | 53 | 2020 |
| Direct binding of GTP cyclohydrolase and tyrosine hydroxylase: regulatory interactions between key enzymes in dopamine biosynthesis KM Bowling, Z Huang, D Xu, F Ferdousy, CD Funderburk, N Karnik, ... Journal of biological chemistry 283 (46), 31449-31459, 2008 | 53 | 2008 |
| Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders SM Hiatt, JMJ Lawlor, LH Handley, RC Ramaker, BB Rogers, ... Human Genetics and Genomics Advances 2 (2), 2021 | 42 | 2021 |
| Systematic reanalysis of genomic data improves quality of variant interpretation SM Hiatt, MD Amaral, KM Bowling, CR Finnila, ML Thompson, DE Gray, ... Clinical genetics 94 (1), 174-178, 2018 | 42 | 2018 |
| Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results KB Brothers, KM East, WV Kelley, MF Wright, MJ Westbrook, CA Rich, ... Genetics in Medicine 19 (3), 337-344, 2017 | 40 | 2017 |
| A typical N-terminal extensions confer novel regulatory properties on GTP cyclohydrolase isoforms in Drosophila melanogaster CD Funderburk, KM Bowling, D Xu, Z Huang, JM O'Donnell Journal of biological chemistry 281 (44), 33302-33312, 2006 | 34 | 2006 |
