James Lu
James Lu
Helix
Verified email at helix.com - Homepage
Title
Cited by
Cited by
Year
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
72052012
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
CM Laine, KS Joeng, PM Campeau, R Kiviranta, K Tarkkonen, M Grover, ...
New England Journal of Medicine 368 (19), 1809-1816, 2013
381*2013
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 1-9, 2014
3162014
The genetic basis of DOORS syndrome: an exome-sequencing study
PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ...
The Lancet Neurology 13 (1), 44-58, 2014
1672014
Thin collagen film scaffolds for retinal epithelial cell culture
JT Lu, CJ Lee, SF Bent, HA Fishman, EE Sabelman
Biomaterials 28 (8), 1486-1494, 2007
1322007
A recurrent PDGFRB mutation causes familial infantile myofibromatosis
YH Cheung, T Gayden, PM Campeau, CA LeDuc, D Russo, VH Nguyen, ...
The American Journal of Human Genetics 92 (6), 996-1000, 2013
1292013
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome
PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ...
The American Journal of Human Genetics 90 (2), 282-289, 2012
1182012
Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
PM Campeau, GM Lenk, JT Lu, Y Bae, L Burrage, P Turnpenny, ...
The American Journal of Human Genetics 92 (5), 781-791, 2013
1132013
An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data
Y Wang, J Lu, J Yu, RA Gibbs, F Yu
Genome research 23 (5), 833-842, 2013
882013
Emergence and rapid transmission of SARS-CoV-2 B. 1.1. 7 in the United States
NL Washington, K Gangavarapu, M Zeller, A Bolze, ET Cirulli, ...
Cell 184 (10), 2587-2594. e7, 2021
792021
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis
PM Campeau, JT Lu, G Sule, MM Jiang, Y Bae, S Madan, W Högler, ...
Human molecular genetics 21 (22), 4904-4909, 2012
722012
The KAT6B‐related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
PM Campeau, JT Lu, BC Dawson, IFAC Fokkema, SP Robertson, ...
Human mutation 33 (11), 1520-1525, 2012
722012
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
JR Shapiro, C Lietman, M Grover, JT Lu, SCS Nagamani, BC Dawson, ...
Journal of Bone and Mineral Research 28 (7), 1523-1530, 2013
672013
Genomic epidemiology identifies emergence and rapid transmission of SARS-CoV-2 B. 1.1. 7 in the United States
NL Washington, K Gangavarapu, M Zeller, A Bolze, ET Cirulli, ...
MedRxiv, 2021
612021
Saliva is less sensitive than nasopharyngeal swabs for COVID-19 detection in the community setting
D Becker, E Sandoval, A Amin, P De Hoff, N Leonetti, YW Lim, C Elliott, ...
medrxiv, 2020
612020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
ET Cirulli, S White, RW Read, G Elhanan, WJ Metcalf, F Tanudjaja, ...
Nature communications 11 (1), 1-10, 2020
602020
Next-generation sequencing for disorders of low and high bone mineral density
G Sule, PM Campeau, VW Zhang, SCS Nagamani, BC Dawson, M Grover, ...
Osteoporosis International 24 (8), 2253-2259, 2013
582013
Study of Cr 2 O 3 coatings Part I: Microstructures and modulus
CS Richard, J Lu, G Béranger, F Decomps
Journal of Thermal Spray Technology 4 (4), 342-346, 1995
421995
Long-term COVID-19 symptoms in a large unselected population
E Cirulli, KMS Barrett, S Riffle, A Bolze, I Neveux, S Dabe, JJ Grzymski, ...
medrxiv, 2020
402020
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
JJ Grzymski, G Elhanan, JAM Rosado, E Smith, KA Schlauch, R Read, ...
Nature Medicine 26 (8), 1235-1239, 2020
39*2020
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