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Lora J. H. Bean
Lora J. H. Bean
Associate Professor, Emory University; Senior Molecular Director, EGL Genetics
Verified email at emory.edu
Title
Cited by
Cited by
Year
Epidemiology of Down syndrome
SL Sherman, EG Allen, LH Bean, SB Freeman
Mental retardation and developmental disabilities research reviews 13 (3 …, 2007
6562007
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
3892008
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
2542013
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
1712015
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
1492018
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
1262012
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
1182006
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
1062020
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
1012020
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
992010
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
762021
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
752001
GeneReviews®
AE Shearer, MS Hildebrand, RJH Smith, MP Adam, HH Ardinger, ...
University of Washington, 2017
712017
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
682011
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
672001
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
652011
GeneReviews
A Gregory, SJ Hayflick, MP Adam
Seattle: University of Washington, 1993
631993
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
622001
Free the data: one laboratory's approach to knowledge‐based genomic variant classification and preparation for EMR integration of genomic data
LJH Bean, SW Tinker, C da Silva, MR Hegde
Human mutation 34 (9), 1183-1188, 2013
612013
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
602014
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