| TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome S Merscher, B Funke, JA Epstein, J Heyer, A Puech, MM Lu, RJ Xavier, ... Cell 104 (4), 619-629, 2001 | 1086 | 2001 |
| ACMG clinical laboratory standards for next-generation sequencing HL Rehm, SJ Bale, P Bayrak-Toydemir, JS Berg, KK Brown, JL Deignan, ... Genetics in medicine 15 (9), 733-747, 2013 | 1045 | 2013 |
| Genetic misdiagnoses and the potential for health disparities AK Manrai, BH Funke, HL Rehm, MS Olesen, BA Maron, P Szolovits, ... New England Journal of Medicine 375 (7), 655-665, 2016 | 715 | 2016 |
| Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ... Genetics in Medicine 19 (2), 192-203, 2017 | 688 | 2017 |
| A common molecular basis for rearrangement disorders on chromosome 22q11 L Edelmann, RK Pandita, E Spiteri, B Funke, R Goldberg, N Palanisamy, ... Human molecular genetics 8 (7), 1157-1167, 1999 | 555 | 1999 |
| Assuring the quality of next-generation sequencing in clinical laboratory practice AS Gargis, L Kalman, MW Berry, DP Bick, DP Dimmock, T Hambuch, F Lu, ... Nature biotechnology 30 (11), 1033-1036, 2012 | 509 | 2012 |
| 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 | 436 | 2015 |
| Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging M Olive, I Harten, R Mitchell, JK Beers, K Djabali, K Cao, MR Erdos, ... Arteriosclerosis, thrombosis, and vascular biology 30 (11), 2301-2309, 2010 | 431 | 2010 |
| Using high-resolution variant frequencies to empower clinical genome interpretation N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, AY Ing, ... Genetics in Medicine 19 (10), 1151-1158, 2017 | 427 | 2017 |
| 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 | 364 | 2014 |
| College of American Pathologists' laboratory standards for next-generation sequencing clinical tests N Aziz, Q Zhao, L Bry, DK Driscoll, B Funke, JS Gibson, WW Grody, ... Archives of Pathology and Laboratory Medicine 139 (4), 481-493, 2015 | 359 | 2015 |
| Evaluating the clinical validity of hypertrophic cardiomyopathy genes J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ... Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019 | 342 | 2019 |
| Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy … MA Kelly, C Caleshu, A Morales, J Buchan, Z Wolf, SM Harrison, S Cook, ... Genetics in Medicine 20 (3), 351-359, 2018 | 334 | 2018 |
| Best practices for benchmarking germline small-variant calls in human genomes P Krusche, L Trigg, PC Boutros, CE Mason, FM De La Vega, BL Moore, ... Nature biotechnology 37 (5), 555-560, 2019 | 327 | 2019 |
| Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era P Teekakirikul, MA Kelly, HL Rehm, NK Lakdawala, BH Funke The Journal of Molecular Diagnostics 15 (2), 158-170, 2013 | 256 | 2013 |
| Genetic variation in DTNBP1 influences general cognitive ability KE Burdick, T Lencz, B Funke, CT Finn, PR Szeszko, JM Kane, ... Human molecular genetics 15 (10), 1563-1568, 2006 | 230 | 2006 |
| Industrial Product-Service Systems (IPS2) Paradigm shift by mutually determined products and services H Meier, O Völker, B Funke The International Journal of Advanced Manufacturing Technology 52, 1175-1191, 2011 | 216 | 2011 |
| Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes R Walsh, R Buchan, A Wilk, S John, LE Felkin, KL Thomson, TH Chiaw, ... European heart journal 38 (46), 3461-3468, 2017 | 204 | 2017 |
| Association of the DTNBP1 locus with schizophrenia in a US population B Funke, CT Finn, AM Plocik, S Lake, P DeRosse, JM Kane, ... The American Journal of Human Genetics 75 (5), 891-898, 2004 | 203 | 2004 |
| 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 | 200 | 2013 |
