Pei-Lung Chen - Publications

Affiliations: 
2009 Johns Hopkins University, Baltimore, MD 

18 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Yeh HM, Liao MH, Chu CL, Lin YH, Sun WZ, Lai LP, Chen PL. Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia. Journal of the Formosan Medical Association = Taiwan Yi Zhi. PMID 32919876 DOI: 10.1016/J.Jfma.2020.08.028  0.332
2019 Wu CC, Tsai CY, Lin YH, Chen PY, Lin PH, Cheng YF, Wu CM, Lin YH, Lee CY, Erdenechuluun J, Liu TC, Chen PL, Hsu CJ. Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population. Genes. 10. PMID 31581539 DOI: 10.3390/Genes10100772  0.362
2019 Lin CH, Chen PL, Tai CH, Lin HI, Chen CS, Chen ML, Wu RM. A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30788857 DOI: 10.1002/Mds.27633  0.306
2018 Erdenechuluun J, Lin YH, Ganbat K, Bataakhuu D, Makhbal Z, Tsai CY, Lin YH, Chan YH, Hsu CJ, Hsu WC, Chen PL, Wu CC. Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations. Plos One. 13: e0209797. PMID 30576380 DOI: 10.1371/Journal.Pone.0209797  0.346
2018 Hsiung YC, Lin PC, Chen CS, Tung YC, Yang WS, Chen PL, Su TC. Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan. Atherosclerosis. 277: 440-447. PMID 30270083 DOI: 10.1016/J.Atherosclerosis.2018.08.022  0.323
2018 Lin YH, Wu CC, Lin YH, Lu YC, Chen CS, Liu TC, Chen PL, Hsu CJ. Targeted next-generation sequencing facilitates genetic diagnosis and provides novel pathogenetic insights into deafness with enlarged vestibular aqueduct. The Journal of Molecular Diagnostics : Jmd. PMID 30268946 DOI: 10.1016/J.Jmoldx.2018.08.007  0.377
2018 Wu PC, Lin YH, Tsai LF, Chen MH, Chen PL, Pai SC. ABO genotyping with next-generation sequencing to resolve heterogeneity in donors with serology discrepancies. Transfusion. PMID 29770457 DOI: 10.1111/Trf.14654  0.303
2017 Chen YF, Chang YY, Lan MY, Chen PL, Lin CH. Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review. Bmc Neurology. 17: 191. PMID 28985717 DOI: 10.1186/S12883-017-0972-5  0.311
2017 Lin HC, Lin CH, Chen PL, Cheng SJ, Chen PH. Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review. Bmc Neurology. 17: 186. PMID 28923025 DOI: 10.1186/S12883-017-0966-3  0.334
2017 Lin YH, Lin YH, Lu YC, Liu TC, Chen CY, Hsu CJ, Chen PL, Wu CC. A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss. Scientific Reports. 7: 7551. PMID 28790396 DOI: 10.1038/S41598-017-08236-Y  0.351
2016 Li Y, Chen D, Zhang Y, Liu C, Chen P, Wang Y, Feng X, Du W, Liu BF. High-throughput single cell multidrug resistance analysis with multifunctional gradients-customizing microfluidic device Sensors and Actuators, B: Chemical. 225: 563-571. DOI: 10.1016/j.snb.2015.11.097  0.302
2015 Wu CC, Lin YH, Liu TC, Lin KN, Yang WS, Hsu CJ, Chen PL, Wu CM. Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. Medicine. 94: e1073. PMID 26166082 DOI: 10.1097/Md.0000000000001073  0.301
2015 Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome. Human Reproduction (Oxford, England). 30: 1732-42. PMID 25924657 DOI: 10.1093/Humrep/Dev095  0.311
2015 Lin YH, Wu CC, Hsu TY, Chiu WY, Hsu CJ, Chen PL. Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing. Mutation Research. 771: 1-5. PMID 25771973 DOI: 10.1016/J.Mrfmmm.2014.11.001  0.354
2014 Hong JB, Chen PL, Chen YT, Tsai TF. Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series. Acta Dermato-Venereologica. 94: 587-8. PMID 24577624 DOI: 10.2340/00015555-1814  0.301
2013 Wu CC, Lin YH, Lu YC, Chen PJ, Yang WS, Hsu CJ, Chen PL. Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment. Plos One. 8: e57369. PMID 23451214 DOI: 10.1371/Journal.Pone.0057369  0.361
2012 Wang CP, Chen TC, Chang YL, Ko JY, Yang TL, Lo FY, Hu YL, Chen PL, Wu CC, Lou PJ. Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. Oral Oncology. 48: 125-9. PMID 21945342 DOI: 10.1016/J.Oraloncology.2011.08.025  0.33
2011 Chen PL, Fann CS, Chu CC, Chang CC, Chang SW, Hsieh HY, Lin M, Yang WS, Chang TC. Comprehensive genotyping in two homogeneous Graves' disease samples reveals major and novel HLA association alleles. Plos One. 6: e16635. PMID 21307958 DOI: 10.1371/Journal.Pone.0016635  0.31
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