| 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 | 547 | 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 | 445 | 2017 |
| Genetic identification of familial hypercholesterolemia within a single US health care system NS Abul-Husn, K Manickam, LK Jones, EA Wright, DN Hartzel, ... Science 354 (6319), aaf7000, 2016 | 419 | 2016 |
| 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 | 239 | 2013 |
| 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 |
| 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 |
| 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 |
| Risks of presymptomatic direct-to-consumer genetic testing JP Annes, MA Giovanni, MF Murray New England Journal of Medicine 363 (12), 1100-1101, 2010 | 83 | 2010 |
| Lysosomal acid lipase deficiency EP Hoffman, ML Barr, MA Giovanni, MF Murray | 82 | 2016 |
| COVID-19 outcomes and the human genome MF Murray, EE Kenny, MD Ritchie, DJ Rader, AE Bale, MA Giovanni, ... Genetics in Medicine 22 (7), 1175-1177, 2020 | 70 | 2020 |
| Health-care referrals from direct-to-consumer genetic testing MA Giovanni, MR Fickie, LS Lehmann, RC Green, LM Meckley, ... Genetic Testing and Molecular Biomarkers 14 (6), 817-819, 2010 | 67 | 2010 |
| Adenomatous polyposis coli plays a key role, in vivo, in coordinating assembly of the neuronal nicotinic postsynaptic complex MM Rosenberg, F Yang, M Giovanni, JL Mohn, MK Temburni, MH Jacob Molecular and Cellular Neuroscience 38 (2), 138-152, 2008 | 65 | 2008 |
| Recurrent HERV‐H‐Mediated 3q13. 2–q13. 31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays A Shuvarikov, IM Campbell, P Dittwald, NJ Neill, MG Bialer, C Moore, ... Human mutation 34 (10), 1415-1423, 2013 | 52 | 2013 |
| DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics … MF Murray, MA Giovanni, DL Doyle, SM Harrison, E Lyon, K Manickam, ... Genetics in Medicine 23 (6), 989-995, 2021 | 48 | 2021 |
| Comparing electronic health record portals to obtain patient-entered family health history in primary care MF Murray, MA Giovanni, E Klinger, E George, L Marinacci, G Getty, ... Journal of general internal medicine 28, 1558-1564, 2013 | 46 | 2013 |
| Consumer knowledge and handling of tree nuts: food safety implications LE Lee, D METz, M GIOvANNI, CM BRUhN Food Protection Trends 31 (1), 18-27, 2011 | 31 | 2011 |
| The application of computer‐based tools in obtaining the genetic family history MA Giovanni, MF Murray Current protocols in human genetics 66 (1), 9.21. 1-9.21. 9, 2010 | 25 | 2010 |
| Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease SS Chopra, I Leshchiner, H Duzkale, H McLaughlin, M Giovanni, C Zhang, ... Molecular Genetics & Genomic Medicine 3 (5), 413-423, 2015 | 13 | 2015 |
| Obtaining a Genetic Family History Using Computer‐Based Tools W Li, MF Murray, MA Giovanni Current Protocols in Human Genetics 100 (1), e72, 2019 | 11 | 2019 |
| Clinical Genomics: Practical Applications for Adult Patient Care MT Murray, M Babyatski, M Giovanni McGraw Hill Professional, 2013 | 9 | 2013 |
