| Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy ED Smith, NK Lakdawala, N Papoutsidakis, G Aubert, A Mazzanti, ... Circulation 141 (23), 1872-1884, 2020 | 286 | 2020 |
| The genetics of dilated cardiomyopathy L Dellefave, EM McNally Current opinion in cardiology 25 (3), 198-204, 2010 | 218 | 2010 |
| Population-based variation in cardiomyopathy genes JR Golbus, MJ Puckelwartz, JP Fahrenbach, LM Dellefave-Castillo, ... Circulation: Cardiovascular Genetics 5 (4), 391-399, 2012 | 175 | 2012 |
| Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy NK Lakdawala, L Dellefave, CS Redwood, E Sparks, AL Cirino, ... Journal of the American College of Cardiology 55 (4), 320-329, 2010 | 144 | 2010 |
| 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 | 139 | 2010 |
| Suicidal ideation in Huntington disease: the role of comorbidity HH Wetzel, CR Gehl, L Dellefave–Castillo, JF Schiffman, KM Shannon, ... Psychiatry research 188 (3), 372-376, 2011 | 128 | 2011 |
| Age and founder effect of SOD1 A4V mutation causing ALS M Saeed, Y Yang, HX Deng, WY Hung, N Siddique, L Dellefave, ... Neurology 72 (19), 1634-1639, 2009 | 122 | 2009 |
| Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation LM Dellefave, P Pytel, S Mewborn, B Mora, DL Guris, S Fedson, ... Circulation: Cardiovascular Genetics 2 (5), 442-449, 2009 | 118 | 2009 |
| Association of racial/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy LG Landry, HL Rehm JAMA cardiology 3 (4), 341-345, 2018 | 90 | 2018 |
| Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis YJ Li, MA Pericak-Vance, JL Haines, N Siddique, D McKenna-Yasek, ... Neurogenetics 5, 209-213, 2004 | 84 | 2004 |
| Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene A Gul, MJ Hassan, S Mahmood, W Chen, S Rahmani, MI Naseer, ... Neurogenetics 7, 105-110, 2006 | 76 | 2006 |
| 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 | 72 | 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 | 64 | 2014 |
| Neuronal ubiquitinated intranuclear inclusions in familial and non-familial frontotemporal dementia of the motor neuron disease type associated with amyotrophic lateral sclerosis EH Bigio, NA Johnson, AW Rademaker, BB Fung, MM Mesulam, ... Journal of Neuropathology & Experimental Neurology 63 (8), 801-811, 2004 | 59 | 2004 |
| S100A12 expression in thoracic aortic aneurysm is associated with increased risk of dissection and perioperative complications D Das, J Gawdzik, L Dellefave-Castillo, EM McNally, A Husain, J Raman, ... Journal of the American College of Cardiology 60 (8), 775-785, 2012 | 58 | 2012 |
| Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: a call for dialogue WS Rubinstein, H Jiang, L Dellefave, AW Rademaker Genetics in Medicine 11 (9), 629-639, 2009 | 54 | 2009 |
| A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy K Rezania, J Yan, L Dellefave, HX Deng, N Siddique, R T Pascuzzi, ... Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 4 (3), 162-166, 2003 | 53 | 2003 |
| Arrhythmogenic right ventricular cardiomyopathy E McNally, H MacLeod, L Dellefave-Castillo GeneReviews®[Internet], 2017 | 52 | 2017 |
| Sarcomere mutations in cardiogenesis and ventricular noncompaction E McNally, L Dellefave Trends in cardiovascular medicine 19 (1), 17-21, 2009 | 52 | 2009 |
| Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease EY Kim, P Page, LM Dellefave-Castillo, EM McNally, EJ Wyatt Skeletal Muscle 6, 1-16, 2016 | 49 | 2016 |
