| Epidemiology of Down syndrome SL Sherman, EG Allen, LH Bean, SB Freeman Mental retardation and developmental disabilities research reviews 13 (3 …, 2007 | 681 | 2007 |
| Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project SB Freeman, LH Bean, EG Allen, SW Tinker, AE Locke, C Druschel, ... Genetics in Medicine 10 (3), 173-180, 2008 | 393 | 2008 |
| ACMG position statement on prenatal/preconception expanded carrier screening WW Grody, BH Thompson, AR Gregg, LH Bean, KG Monaghan, ... Obstetrical & Gynecological Survey 68 (12), 785-787, 2013 | 262 | 2013 |
| A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield A Ankala, C da Silva, F Gualandi, A Ferlini, LJH Bean, C Collins, ... Annals of neurology 77 (2), 206-214, 2015 | 177 | 2015 |
| Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients BRR Nallamilli, S Chakravorty, A Kesari, A Tanner, A Ankala, T Schneider, ... Annals of clinical and translational neurology 5 (12), 1574-1587, 2018 | 158 | 2018 |
| An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects C Ackerman, AE Locke, E Feingold, B Reshey, K Espana, J Thusberg, ... The American Journal of Human Genetics 91 (4), 646-659, 2012 | 126 | 2012 |
| Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) L Bean, B Funke, CM Carlston, JL Gannon, S Kantarci, BL Krock, S Zhang, ... Genetics in Medicine 22 (3), 453-461, 2020 | 125 | 2020 |
| CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome CL Maslen, D Babcock, SW Robinson, LJ Bean, KJ Dooley, VL Willour, ... American journal of medical genetics. Part A 140 (22), 2501, 2006 | 124 | 2006 |
| Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants T Brandt, LM Sack, D Arjona, D Tan, H Mei, H Cui, H Gao, LJH Bean, ... Genetics in Medicine 22 (2), 336-344, 2020 | 119 | 2020 |
| Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome AE Locke, KJ Dooley, SW Tinker, SY Cheong, E Feingold, EG Allen, ... Genetic epidemiology 34 (6), 613-623, 2010 | 104 | 2010 |
| Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics … C Rehder, LJH Bean, D Bick, E Chao, W Chung, S Das, J O’Daniel, ... Genetics in Medicine 23 (8), 1399-1415, 2021 | 98 | 2021 |
| GeneReviews® AE Shearer, MS Hildebrand, RJH Smith, MP Adam, HH Ardinger, ... University of Washington, 2017 | 77 | 2017 |
| Phosphorylation of serines 15 and 37 is necessary for efficient accumulation of p53 following irradiation with UV LJH Bean, GR Stark Oncogene 20 (9), 1076-1084, 2001 | 76 | 2001 |
| Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies P Yu-Wai-Man, SP Shankar, V Biousse, NR Miller, LJH Bean, B Coffee, ... Ophthalmology 118 (3), 558-563, 2011 | 69 | 2011 |
| Regulation of ubiquitination and degradation of p53 in unstressed cells through C-terminal phosphorylation MV Chernov, LJH Bean, N Lerner, GR Stark Journal of Biological Chemistry 276 (34), 31819-31824, 2001 | 69 | 2001 |
| Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project LJ H. Bean, EG Allen, SW Tinker, NTD Hollis, AE Locke, C Druschel, ... Birth Defects Research Part A: Clinical and Molecular Teratology 91 (10 …, 2011 | 68 | 2011 |
| American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington … L Bean, P Bayrak-Toydemir, ... Genetics in Medicine 16 (12), 1-7, 2014 | 64 | 2014 |
| Regulation of p53 expression by the RAS-MAP kinase pathway ML Agarwal, CV Ramana, M Hamilton, WR Taylor, SE DePrimo, ... Oncogene 20 (20), 2527-2536, 2001 | 63 | 2001 |
| GeneReviews A Gregory, SJ Hayflick, MP Adam Seattle: University of Washington, 1993 | 63 | 1993 |
| Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing MA Jones, D Rhodenizer, C da Silva, IJ Huff, L Keong, LJH Bean, ... Molecular Genetics and Metabolism 110 (1-2), 78-85, 2013 | 59 | 2013 |
