| Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high … Y Yang, EK Chung, YL Wu, SL Savelli, HN Nagaraja, B Zhou, M Hebert, ... The American Journal of Human Genetics 80 (6), 1037-1054, 2007 | 558 | 2007 |
| Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline RE Hershberger, MM Givertz, CY Ho, DP Judge, PF Kantor, KL McBride, ... Journal of cardiac failure 24 (5), 281-302, 2018 | 395 | 2018 |
| The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly EA Varga, M Pastore, T Prior, GE Herman, KL McBride Genetics in Medicine 11 (2), 111-117, 2009 | 345 | 2009 |
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly KL McBride, EA Varga, MT Pastore, TW Prior, K Manickam, JF Atkin, ... Autism Research 3 (3), 137-141, 2010 | 282 | 2010 |
| Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability KL McBride, R Pignatelli, M Lewin, T Ho, S Fernbach, A Menesses, ... American journal of medical genetics Part A 134 (2), 180-186, 2005 | 277 | 2005 |
| NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling KL McBride, MF Riley, GA Zender, SM Fitzgerald-Butt, JA Towbin, ... Human molecular genetics 17 (18), 2886-2893, 2008 | 271 | 2008 |
| Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) RE Hershberger, MM Givertz, CY Ho, DP Judge, PF Kantor, KL McBride, ... Genetics in Medicine 20 (9), 899-909, 2018 | 256 | 2018 |
| Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions MB Lewin, KL McBride, R Pignatelli, S Fernbach, A Combes, A Menesses, ... Pediatrics 114 (3), 691-696, 2004 | 142 | 2004 |
| Genetic testing in autism: how much is enough? GE Herman, N Henninger, K Ratliff-Schaub, M Pastore, S Fitzgerald, ... Genetics in Medicine 9 (5), 268-274, 2007 | 131 | 2007 |
| 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 | 127 | 2014 |
| Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome) KL McBride, GA Zender, SM Fitzgerald-Butt, D Koehler, A Menesses-Diaz, ... European journal of human genetics 17 (6), 811-819, 2009 | 111 | 2009 |
| Identification of a recurrent microdeletion at 17q23. 1q23. 2 flanked by segmental duplications associated with heart defects and limb abnormalities BC Ballif, A Theisen, JA Rosenfeld, RN Traylor, J Gastier-Foster, ... The American Journal of Human Genetics 86 (3), 454-461, 2010 | 110 | 2010 |
| Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve EM Bonachea, SW Chang, G Zender, S LaHaye, S Fitzgerald-Butt, ... Pediatric research 76 (2), 211-216, 2014 | 102 | 2014 |
| Feasibility and Safety of Systemic rAAV9-hNAGLU Delivery for Treating Mucopolysaccharidosis IIIB: Toxicology, Biodistribution, and Immunological Assessments in … DA Murrey, BJ Naughton, FJ Duncan, AS Meadows, TA Ware, ... Human gene therapy Clinical development 25 (2), 72-84, 2014 | 100 | 2014 |
| Utilization of whole exome sequencing to identify causative mutations in familial congenital heart disease S LaHaye, D Corsmeier, M Basu, JL Bowman, S Fitzgerald-Butt, G Zender, ... Circulation: Cardiovascular Genetics 9 (4), 320-329, 2016 | 91 | 2016 |
| Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas … KL McBride, L Marengo, M Canfield, P Langlois, D Fixler, JW Belmont Birth Defects Research Part A: Clinical and Molecular Teratology 73 (8), 555-561, 2005 | 86 | 2005 |
| Contactin 4 as an autism susceptibility locus CE Cottrell, N Bir, E Varga, CE Alvarez, S Bouyain, R Zernzach, ... Autism Research 4 (3), 189-199, 2011 | 80 | 2011 |
| Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine … KL McBride, G Miller, S Carter, S Karpen, J Goss, B Lee Pediatrics 114 (4), e523-e526, 2004 | 80 | 2004 |
| Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A FM Hisama, D Lessel, D Leistritz, K Friedrich, KL McBride, MT Pastore, ... American journal of medical genetics Part A 155 (12), 3002-3006, 2011 | 69 | 2011 |
| Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve EM Bonachea, G Zender, P White, D Corsmeier, D Newsom, ... BMC medical genomics 7, 1-10, 2014 | 68 | 2014 |