| Genetic mutations and mechanisms in dilated cardiomyopathy EM McNally, JR Golbus, MJ Puckelwartz The Journal of clinical investigation 123 (1), 19-26, 2013 | 541 | 2013 |
| Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice MJ Puckelwartz, E Kessler, Y Zhang, D Hodzic, KN Randles, G Morris, ... Human molecular genetics 18 (4), 607-620, 2009 | 224 | 2009 |
| Population-based variation in cardiomyopathy genes JR Golbus, MJ Puckelwartz, JP Fahrenbach, LM Dellefave-Castillo, ... Circulation: Cardiovascular Genetics 5 (4), 391-399, 2012 | 183 | 2012 |
| Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis R Attali, N Warwar, A Israel, I Gurt, E McNally, M Puckelwartz, B Glick, ... Human molecular genetics 18 (18), 3462-3469, 2009 | 177 | 2009 |
| Nesprin-1 mutations in human and murine cardiomyopathy MJ Puckelwartz, EJ Kessler, G Kim, MM DeWitt, Y Zhang, JU Earley, ... Journal of molecular and cellular cardiology 48 (4), 600-608, 2010 | 161 | 2010 |
| The genetic landscape of cardiomyopathy and its role in heart failure EM McNally, DY Barefield, MJ Puckelwartz Cell metabolism 21 (2), 174-182, 2015 | 144 | 2015 |
| Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation SK Mewborn, MJ Puckelwartz, F Abuisneineh, JP Fahrenbach, Y Zhang, ... PloS one 5 (12), e14342, 2010 | 141 | 2010 |
| Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis C Zhou, C Li, B Zhou, H Sun, V Koullourou, I Holt, MJ Puckelwartz, ... Human molecular genetics 26 (12), 2258-2276, 2017 | 104 | 2017 |
| Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development KN Randles, LT Lam, CA Sewry, M Puckelwartz, D Furling, M Wehnert, ... Developmental dynamics: an official publication of the American Association …, 2010 | 102 | 2010 |
| Harmonizing clinical sequencing and interpretation for the eMERGE III network H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ... The American Journal of Human Genetics 105 (3), 588-605, 2019 | 97 | 2019 |
| Emery–Dreifuss muscular dystrophy M Puckelwartz Handbook of clinical neurology 101, 155-166, 2011 | 82 | 2011 |
| Supercomputing for the parallelization of whole genome analysis MJ Puckelwartz, LL Pesce, V Nelakuditi, L Dellefave-Castillo, JR Golbus, ... Bioinformatics 30 (11), 1508-1513, 2014 | 73 | 2014 |
| Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy JR Golbus, MJ Puckelwartz, L Dellefave-Castillo, JP Fahrenbach, ... Circulation: Cardiovascular Genetics 7 (6), 751-759, 2014 | 70 | 2014 |
| Gene expression, chromosome position and lamin A/C mutations MJ Puckelwartz, FFS Depreux, EM McNally Nucleus 2 (3), 14342-29, 2011 | 69 | 2011 |
| Returning integrated genomic risk and clinical recommendations: The eMERGE study JE Linder, A Allworth, HT Bland, PJ Caraballo, RL Chisholm, EW Clayton, ... Genetics in Medicine 25 (4), 100006, 2023 | 64 | 2023 |
| Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure MG Levin, NL Tsao, P Singhal, C Liu, HMT Vy, I Paranjpe, JD Backman, ... Nature Communications 13 (1), 6914, 2022 | 59 | 2022 |
| Genetic variation in enhancers modifies cardiomyopathy gene expression and progression AM Gacita, DE Fullenkamp, J Ohiri, T Pottinger, MJ Puckelwartz, ... Circulation 143 (13), 1302-1316, 2021 | 53 | 2021 |
| Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations NJ Lennon, LC Kottyan, C Kachulis, NS Abul-Husn, J Arias, G Belbin, ... Nature Medicine 30 (2), 480-487, 2024 | 52 | 2024 |
| Experimental modeling supports a role for MyBP-HL as a novel myofilament component in arrhythmia and dilated cardiomyopathy DY Barefield, MJ Puckelwartz, EY Kim, LD Wilsbacher, AH Vo, EA Waters, ... Circulation 136 (16), 1477-1491, 2017 | 44 | 2017 |
| Association of cardiomyopathy with MYBPC3 D389V and MYBPC3Δ25bpIntronic deletion in South Asian descendants SK Viswanathan, MJ Puckelwartz, A Mehta, CJA Ramachandra, ... JAMA cardiology 3 (6), 481-488, 2018 | 43 | 2018 |
