| ClinGen—the clinical genome resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine 372 (23), 2235-2242, 2015 | 1152 | 2015 |
| Polygenic prediction of weight and obesity trajectories from birth to adulthood AV Khera, M Chaffin, KH Wade, S Zahid, J Brancale, R Xia, M Distefano, ... Cell 177 (3), 587-596. e9, 2019 | 606 | 2019 |
| 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 |
| Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study FE Dewey, MF Murray, JD Overton, L Habegger, JB Leader, SN Fetterolf, ... Science 354 (6319), aaf6814, 2016 | 548 | 2016 |
| Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity AA Alfares, MA Kelly, G McDermott, BH Funke, MS Lebo, SB Baxter, ... Genetics in medicine 17 (11), 880-888, 2015 | 419 | 2015 |
| The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing TJ Pugh, MA Kelly, S Gowrisankar, E Hynes, MA Seidman, SM Baxter, ... Genetics in Medicine 16 (8), 601-608, 2014 | 358 | 2014 |
| Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ... Nature communications 11 (1), 3635, 2020 | 325 | 2020 |
| Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis B Coste, G Houge, MF Murray, N Stitziel, M Bandell, MA Giovanni, ... Proceedings of the National Academy of Sciences 110 (12), 4667-4672, 2013 | 240 | 2013 |
| Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo, WY Timothy, S Fayer, ... The American Journal of Human Genetics 104 (1), 76-93, 2019 | 220 | 2019 |
| Exome sequencing–based screening for BRCA1/2 expected pathogenic variants among adult biobank participants K Manickam, AH Buchanan, MLB Schwartz, MLG Hallquist, JL Williams, ... JAMA Network Open 1 (5), e182140-e182140, 2018 | 197 | 2018 |
| The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial JL Vassy, KD Christensen, EF Schonman, CL Blout, JO Robinson, ... Annals of internal medicine 167 (3), 159-169, 2017 | 192 | 2017 |
| A systematic approach to assessing the clinical significance of genetic variants H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, ... Clinical genetics 84 (5), 453-463, 2013 | 191 | 2013 |
| Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing D Mandelker, RJ Schmidt, A Ankala, K McDonald Gibson, M Bowser, ... Genetics in Medicine 18 (12), 1282-1289, 2016 | 187 | 2016 |
| 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 |
| A model for genome-first care: returning secondary genomic findings to participants and their healthcare providers in a large research cohort MLB Schwartz, CZ McCormick, AL Lazzeri, ML D’Andra, MLG Hallquist, ... The American Journal of Human Genetics 103 (3), 328-337, 2018 | 150 | 2018 |
| Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection SM Zekavat, SH Lin, AG Bick, A Liu, K Paruchuri, C Wang, MM Uddin, ... Nature medicine 27 (6), 1012-1024, 2021 | 119 | 2021 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 119 | 2014 |
| A curated gene list for reporting results of newborn genomic sequencing O Ceyhan-Birsoy, K Machini, MS Lebo, TW Yu, PB Agrawal, RB Parad, ... Genetics in Medicine 19 (7), 809-818, 2017 | 106 | 2017 |
| A systematic approach to the reporting of medically relevant findings from whole genome sequencing HM McLaughlin, O Ceyhan-Birsoy, KD Christensen, IS Kohane, J Krier, ... BMC Medical Genetics 15, 1-12, 2014 | 102 | 2014 |
| Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy DM Jordan, A Kiezun, SM Baxter, V Agarwala, RC Green, MF Murray, ... The American Journal of Human Genetics 88 (2), 183-192, 2011 | 94 | 2011 |
Kurt D. ChristensenAssistant Professor in Population Medicine, Harvard Pilgrim Health Care InstituteVerified email at harvardpilgrim.org
