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Theodore Chiang
Theodore Chiang
AiLife Diagnostics Inc.
Verified email at ailifeus.com
Title
Cited by
Cited by
Year
Molecular findings among patients referred for clinical whole-exome sequencing
Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ...
Jama 312 (18), 1870-1879, 2014
14632014
SARA, a FYVE domain protein that recruits Smad2 to the TGFβ receptor
T Tsukazaki, TA Chiang, AF Davison, L Attisano, JL Wrana
Cell 95 (6), 779-791, 1998
13331998
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
BW Zanke, CMT Greenwood, J Rangrej, R Kustra, A Tenesa, ...
Nature genetics 39 (8), 989-994, 2007
8222007
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ...
JAMA pediatrics 171 (12), e173438-e173438, 2017
4162017
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
LJ Strug, T Clarke, T Chiang, M Chien, Z Baskurt, W Li, R Dorfman, B Bali, ...
European Journal of Human Genetics 17 (9), 1171-1181, 2009
2422009
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
L Sun, JM Rommens, H Corvol, W Li, X Li, TA Chiang, F Lin, R Dorfman, ...
Nature genetics 44 (5), 562-569, 2012
2392012
Lessons learned from additional research analyses of unsolved clinical exome cases
MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...
Genome medicine 9, 1-15, 2017
2242017
Reanalysis of clinical exome sequencing data
P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ...
New England Journal of Medicine 380 (25), 2478-2480, 2019
2222019
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ...
The American Journal of Human Genetics 99 (4), 831-845, 2016
1722016
Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities
W Li, D Soave, MR Miller, K Keenan, F Lin, J Gong, T Chiang, ...
Human genetics 133, 151-161, 2014
1292014
Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations
SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ...
The American Journal of Human Genetics 98 (2), 347-357, 2016
1202016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ...
Nucleic acids research 45 (4), 1633-1648, 2017
1182017
Harmonizing clinical sequencing and interpretation for the eMERGE III network
H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ...
The American Journal of Human Genetics 105 (3), 588-605, 2019
932019
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer
M Mrkonjic, NM Roslin, CM Greenwood, S Raptis, A Pollett, PW Laird, ...
PLoS One 5 (10), e13314, 2010
532010
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
AV Dharmadhikari, R Ghosh, BO Yuan, P Liu, H Dai, S Al Masri, J Scull, ...
Genome medicine 11, 1-17, 2019
512019
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
B Yuan, L Wang, P Liu, C Shaw, H Dai, L Cooper, W Zhu, SA Anderson, ...
Genetics in Medicine 22 (10), 1633-1641, 2020
412020
Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic
A Derkach, T Chiang, J Gong, L Addis, S Dobbins, I Tomlinson, ...
Bioinformatics 30 (15), 2179-2188, 2014
352014
In vivo modeling of metastatic human high-grade serous ovarian cancer in mice
O Kim, EY Park, DL Klinkebiel, SD Pack, YH Shin, Z Abdullaev, ...
PLoS genetics 16 (6), e1008808, 2020
322020
Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms
R Rajendram, JC Ferreira, D Grafodatskaya, S Choufani, T Chiang, S Pu, ...
Epigenetics 6 (4), 410-415, 2011
262011
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
T Chiang, X Liu, TJ Wu, J Hu, FJ Sedlazeck, S White, D Schaid, ...
Genetics in Medicine 21 (9), 2135-2144, 2019
222019
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