| Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ... Journal of medical genetics 47 (5), 332-341, 2010 | 611 | 2010 |
| Williams syndrome BA Kozel, B Barak, CA Kim, CB Mervis, LR Osborne, M Porter, BR Pober Nature Reviews Disease Primers 7 (1), 42, 2021 | 223 | 2021 |
| Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters BA Kozel, BJ Rongish, A Czirok, J Zach, CD Little, EC Davis, RH Knutsen, ... Journal of cellular physiology 207 (1), 87-96, 2006 | 213 | 2006 |
| Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain TJ Broekelmann, BA Kozel, H Ishibashi, CC Werneck, FW Keeley, ... Journal of Biological Chemistry 280 (49), 40939-40947, 2005 | 196 | 2005 |
| Domains in tropoelastin that mediate elastin depositionin vitro and in vivo BA Kozel, H Wachi, EC Davis, RP Mecham Journal of Biological Chemistry 278 (20), 18491-18498, 2003 | 154 | 2003 |
| BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome LM Reis, RC Tyler, KF Schilter, O Abdul-Rahman, JW Innis, BA Kozel, ... Human genetics 130, 495-504, 2011 | 137 | 2011 |
| A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 135 | 2021 |
| Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes SM Ware, N El-Hassan, SG Kahler, Q Zhang, E Miller, B Wong, RL Spicer, ... Journal of medical genetics 46 (5), 308-314, 2009 | 115 | 2009 |
| The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results D Baldridge, J Heeley, M Vineyard, L Manwaring, TL Toler, E Fassi, ... Genetics in Medicine 19 (9), 1040-1048, 2017 | 114 | 2017 |
| Elastic fiber macro‐assembly is a hierarchical, cell motion‐mediated process A Czirok, J Zach, BA Kozel, RP Mecham, EC Davis, BJ Rongish Journal of cellular physiology 207 (1), 97-106, 2006 | 112 | 2006 |
| Elastin-driven genetic diseases MLD Lasio, BA Kozel Matrix Biology 71, 144-160, 2018 | 100 | 2018 |
| Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells BA Kozel, CH Ciliberto, RP Mecham Matrix biology 23 (1), 23-34, 2004 | 97 | 2004 |
| Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1 BA Kozel, JR Danback, JL Waxler, RH Knutsen, L de Las Fuentes, ... Hypertension 63 (1), 74-79, 2014 | 90 | 2014 |
| Williams–Beuren syndrome in diverse populations P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ... American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018 | 86 | 2018 |
| Elastic fiber ultrastructure and assembly BA Kozel, RP Mecham Matrix Biology 84, 31-40, 2019 | 74 | 2019 |
| Effects of obesity and hypertension on pulse wave velocity in children N Kulsum‐Mecci, C Goss, BA Kozel, JM Garbutt, KB Schechtman, ... The Journal of Clinical Hypertension 19 (3), 221-226, 2017 | 72 | 2017 |
| Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44 SCS Nagamani, A Erez, C Bay, A Pettigrew, SR Lalani, K Herman, ... European Journal of Human Genetics 20 (2), 176-179, 2012 | 65 | 2012 |
| Hypercalcemia in patients with Williams-Beuren syndrome S Sindhar, M Lugo, MD Levin, JR Danback, BD Brink, E Yu, DJ Dietzen, ... The Journal of pediatrics 178, 254-260. e4, 2016 | 64 | 2016 |
| Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness RH Knutsen, SC Beeman, TJ Broekelmann, D Liu, KM Tsang, A Kovacs, ... American Journal of Physiology-Heart and Circulatory Physiology 315 (1), H18-H32, 2018 | 59 | 2018 |
| Whole‐genome copy number variation analysis in anophthalmia and microphthalmia KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul‐Rahman, ... Clinical genetics 84 (5), 473-481, 2013 | 59 | 2013 |
Robert P MechamAlumni Endowed Professor of Cell Biology and Physiology, Washington University School of MedicineVerified email at wustl.edu