Year |
Citation |
Score |
2023 |
Belbachir N, Wu Y, Shen M, Zhang SL, Zhang JZ, Liu C, Knollmann BC, Lyon GJ, Ma N, Wu JC. Studying Long QT Syndrome Caused by Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells. Circulation. 148: 1598-1601. PMID 37956223 DOI: 10.1161/CIRCULATIONAHA.122.061864 |
0.539 |
|
2019 |
Li L, Bin Mao, Li S, Xiao J, Wang H, Zhang J, Ren X, Wang Y, Wu Y, Cao Y, Lu C, Gao J, You Y, Zhao F, Geng X, et al. Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. Human Mutation. PMID 30715774 DOI: 10.1002/humu.23718 |
0.383 |
|
2018 |
Wu Y, Lyon GJ. NAA10-related syndrome. Experimental & Molecular Medicine. 50: 85. PMID 30054457 DOI: 10.1038/S12276-018-0098-X |
0.564 |
|
2017 |
Fang H, Wu Y, Yang H, Yoon M, Jiménez-Barrón LT, Mittelman D, Robison R, Wang K, Lyon GJ. Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. Bmc Medical Genomics. 10: 10. PMID 28228131 DOI: 10.1186/S12920-017-0246-5 |
0.77 |
|
2016 |
Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, et al. Indel variant analysis of short-read sequencing data with Scalpel. Nature Protocols. 11: 2529-2548. PMID 27854363 DOI: 10.1038/Nprot.2016.150 |
0.618 |
|
2016 |
Klimas A, Wu Y, Ambrosi CM, Yu J, Williams JC, Bien H, Lyon GJ, Entcheva E. Disease Modeling in Human Induced Pluripotent Stem Cell Derived Cardiomyocytes Using High-Throughput All-Optical Dynamic Cardiac Electrophysiology Frontiers in Optics. DOI: 10.1364/Fio.2016.Ff3A.3 |
0.56 |
|
2015 |
Jiménez-Barrón LT, O'Rawe JA, Wu Y, Yoon M, Fang H, Iossifov I, Lyon GJ. Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Cold Spring Harbor Molecular Case Studies. 1: a000422. PMID 27148569 DOI: 10.1101/mcs.a000422 |
0.784 |
|
2015 |
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, et al. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. American Journal of Human Genetics. 97: 922-32. PMID 26637982 DOI: 10.1016/J.Ajhg.2015.11.005 |
0.728 |
|
2015 |
Myklebust LM, Van Damme P, Støve SI, Dörfel MJ, Abboud A, Kalvik TV, Grauffel C, Jonckheere V, Wu Y, Swensen J, Kaasa H, Liszczak G, Marmorstein R, Reuter N, Lyon GJ, et al. Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Human Molecular Genetics. 24: 1956-76. PMID 25489052 DOI: 10.1093/Hmg/Ddu611 |
0.612 |
|
2014 |
Fang H, Wu Y, Narzisi G, O'Rawe JA, Barrón LT, Rosenbaum J, Ronemus M, Iossifov I, Schatz MC, Lyon GJ. Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Medicine. 6: 89. PMID 25426171 DOI: 10.1186/S13073-014-0089-Z |
0.763 |
|
2014 |
Narzisi G, O'Rawe JA, Iossifov I, Fang H, Lee YH, Wang Z, Wu Y, Lyon GJ, Wigler M, Schatz MC. Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nature Methods. 11: 1033-6. PMID 25128977 DOI: 10.1038/Nmeth.3069 |
0.743 |
|
2013 |
O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Medicine. 5: 28. PMID 23537139 DOI: 10.1186/Gm432 |
0.796 |
|
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