第 1 到 111 筆結果,共 111 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
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1 | 2024 | Complete genomic profiles of 1496 Taiwanese reveal curated medical insights | Jacob Shujui Hsu ; Wu, Dung Chi; Shih, Shang Hung; Liu, Jen Feng; Tsai, Ya Chen; Lee, Tung Lin; Chen, Wei An; Tseng, Yi Hsuan; Lo, Yi Chung; Lin, Hong Ye; Chen, Yi Chieh; Chen, Jing Yi; Chou, Ting Hsuan; Chang, Darby Tien Hao; Su, Ming Wei; Guo, Wei Hong; Mao, Hsin Hsiang; CHIEN-YU CHEN ; PEI-LUNG CHEN | Journal of Advanced Research | 0 | ||
2 | 2023 | A 20-year study of autoimmune polyendocrine syndrome type II and III in Taiwan | Tseng, Hsu-Hua; Lin, Yen-Bo; Lin, Kuan-Yu; CHIA-HUNG LIN ; HUNG-YUAN LI ; CHIA-HSUIN CHANG ; YI-CHING TUNG ; PEI-LUNG CHEN ; CHIH-YUAN WANG ; WEI-SHIUNG YANG ; SHYANG-RONG SHIH | European thyroid journal | |||
3 | 2023 | Traits of Patients With Pituitary Tumors in Multiple Endocrine Neoplasia Type 1 and Comparing Different Mutation Status | Lin, Kuan-Yu; YU-TING KUO ; MEI-FANG CHENG ; PEI-LUNG CHEN ; HSIU-PO WANG ; TSU-YAO CHENG ; CHIA-HSUIN CHANG ; HSIANG-FONG KAO ; SHIH-HUNG YANG ; HUNG-YUAN LI ; CHIA-HUNG LIN ; Chou, Yuh-Tsyr; Chung, An-Ko; WAN-CHEN WU ; JIN-YING LU ; CHIH-YUAN WANG ; Hsih, Wen-Hui; Wen, Chen-Yu; WEI-SHIUNG YANG ; SHYANG-RONG SHIH | The Journal of clinical endocrinology and metabolism | 0 | 0 | |
4 | 2023 | L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice | Yang, Wendy; Chen, Szu-Chieh; Wang, Tse-En; PEI-SHIUE TSAI ; Chen, Jeng-Chang; PEI-LUNG CHEN | Gene | 0 | 0 | |
5 | 2023 | Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment | Chiang Yu-ting; PEI-HSUAN LIN ; Lo, Ming-Yu; HSIN-LIN CHEN ; Lee, Chen-Yu; Tsai, Cheng-Yu; Lin, Yin-Hung; Tsai, Shih-Feng; TIEN-CHEN LIU ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; Jacob Shujui Hsu ; CHEN-CHI WU | The Journal of molecular diagnostics : JMD | 0 | 0 | |
6 | 2023 | Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases | Chen, Chi-Bo; Jacob Shujui Hsu ; PEI-LUNG CHEN ; JIA-FENG WU ; Li, Huei-Ying; Liou, Bang-Yu; MEI-HWEI CHANG ; YEN-HSUAN NI ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Chou, Yen-Yin; Yang, Yao-Jong; NI-CHUNG LEE ; HUEY-LING CHEN | The Journal of Pediatrics | 1 | 0 | |
7 | 2023 | SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome | Cheng, Ya-Yuan; KAI-CHI CHANG ; PEI-LUNG CHEN ; Yeung, Chun-Yan; Liou, Bang-Yu; HUEY-LING CHEN | Journal of the Formosan Medical Association | 0 | 0 | |
8 | 2023 | Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss | Lee, Chen-Yu; PEI-HSUAN LIN ; Chiang Yu-ting; Tsai, Cheng-Yu; Yang, Shu-Yu; Chen, You-Mei; Li, Chao-Hsuan; CHUN-YI LU ; TIEN-CHEN LIU ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; Jacob Shujui Hsu ; CHEN-CHI WU | Otolaryngology - Head and Neck Surgery | 2 | 0 | |
9 | 2023 | Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population | Lee, Yen-Hui; Tsai, Cheng-Yu; Lu, Yue-Sheng; PEI-HSUAN LIN ; Chiang Yu-ting; TING-HUA YANG ; Jacob Shujui Hsu ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; TIEN-CHEN LIU ; CHEN-CHI WU | Genes | 0 | 0 | |
10 | 2023 | A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration | Chen, Huan-Yun; Lin, Han-I; Hsu, Chia-Lang; PEI-LUNG CHEN ; Huang, Cheng-Yen; SHU-CHUN TENG ; CHIN-HSIEN LIN | Parkinsonism & Related Disorders | 0 | 0 | |
11 | 2023 | Reply | TA-CHING CHEN ; PEI-LUNG CHEN ; Chen, Yi Chieh; CHANG-HAO YANG ; CHUNG-MAY YANG | Retina | 0 | 0 | |
12 | 2023 | Diagnostic rate of germline pathogenic variants in pancreatic ductal adenocarcinoma patients using whole genome sequencing | Chung, An-Ko; Lin, Ro-Ting; Yeh, Chun-Chieh; Yang, Chi-Ying; Wu, Chang-Jiun; PEI-LUNG CHEN ; JAW-TOWN LIN | Frontiers in Genetics | 1 | 0 | |
13 | 2022 | Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing | Lee, Chen-Yu; Lo, Ming-Yu; Chen, You-Mei; PEI-HSUAN LIN ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; CHEN-CHI WU ; Jacob Shujui Hsu | Molecular Genetics & Genomic Medicine | 3 | 2 | |
14 | 2022 | Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course | Chiang, Che-Ming; YUNG-MING JENG ; MING-CHIH HO ; Lai, Ming-Wei; Li, Huei-Ying; PEI-LUNG CHEN ; NI-CHUNG LEE ; JIA-FENG WU ; YU-CHUN CHIU ; Liou, Bang-Yu; YEN-HSUAN NI ; HONG-YUAN HSU ; MEI-HWEI CHANG ; HUEY-LING CHEN | JGH open : an open access journal of gastroenterology and hepatology | 1 | 1 | |
15 | 2022 | Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes | Lee, Chia-Jung; Chen, Ting-Huei; Lim, Aylwin Ming Wee; Chang, Chien-Ching; Sie, Jia-Jyun; PEI-LUNG CHEN ; Chang, Su-Wei; Wu, Shang-Jung; Hsu, Chia-Lin; Hsieh, Ai-Ru; WEI-SHIUNG YANG ; Fann, Cathy S J | Acta Crystallographica Section F Structural Biology Communications | 7 | 8 | |
16 | 2022 | Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage | CHIH-HAO CHEN ; Chu, Yung-Tsai; YA-FANG CHEN ; Ko, Tzu-Yu; Cheng, Yu-Wen; MING-JEN LEE ; PEI-LUNG CHEN ; SUNG-CHUN TANG ; JIANN-SHING JENG | European journal of neurology | 4 | 4 | |
17 | 2022 | Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease | Hsieh, Pei-Feng; SHIH-YAO LIU ; CHIH-HAO CHEN ; PEI-LUNG CHEN ; SUNG-CHUN TANG ; JIANN-SHING JENG | Journal of the Formosan Medical Association | 0 | 0 | |
18 | 2022 | Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical Implications | Lee, Chee-Yee; PEI-HSUAN LIN ; Tsai, Cheng-Yu; Chiang Yu-ting; Chiou, Hong-Ping; Chiang, Ko-Yin; PEI-LUNG CHEN ; Jacob Shujui Hsu ; TIEN-CHEN LIU ; Wu, Hung-Pin; CHEN-CHI WU ; Hsu, Chuan-Jen | Biomedicines | 4 | 5 | |
19 | 2022 | Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study | PEI-HSUAN LIN ; Wu, Hung-Pin; Wu, Che-Ming; Chiang, Yu-ting; Jacob Shujui Hsu ; Tsai, Cheng-Yu; Wang, Han; Tseng, Li-Hui; Chen, Pey-Yu; TING-HUA YANG ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; CHEN-CHI WU ; TIEN-CHEN LIU | Biomedicines | 11 | 5 | |
20 | 2022 | Clinical manifestations and genetic characteristics in the Taiwan thoracic aortic aneurysm and dissection cohort - a prospective cohort study | Duan, De-Min; Chiu, Hsin-Hui; PEI-LUNG CHEN ; PO-TING YEH ; CHIH-WEI YU ; KAI-CHIEN YANG ; CHIH-CHIEH YU | Journal of the Formosan Medical Association | 5 | 4 | |
21 | 2022 | Risk factors related to age at diagnosis of pancreatic cancer: a retrospective cohort pilot study | Lin, Ro-Ting; PEI-LUNG CHEN ; Yang, Chi-Ying; Yeh, Chun-Chieh; Lin, Chun-Che; Huang, Wen-Hsin; Chung, An-Ko; JAW-TOWN LIN | BMC Gastroenterology | 2 | 2 | |
22 | 2022 | PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2 -RELATED BIETTI CRYSTALLINE DYSTROPHY | Chan, Li Wei; Sung, Yu Chi; Wu, Dung Chi; CHIEN-YU CHEN ; CHANG-HAO YANG ; CHUNG-MAY YANG ; PEI-LUNG CHEN ; TA-CHING CHEN | Retina | 4 | 3 | |
23 | 2022 | Cochlear implantation in LEOPARD syndrome: Our experience with three patients | Wu, Ping-Che; Tsai, Cheng-Yu; PEI-HSUAN LIN ; Chou, Pao-Hsuan; Huang, Fang-Lih; PEI-LUNG CHEN ; Shiao, Jiun-Yih; TIEN-CHEN LIU ; Hsu, Chuan-Jen; Huang, Chang-Wei; CHEN-CHI WU | Clinical Otolaryngology | 0 | 0 | |
24 | 2022 | A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan | MENG-CHEN WU ; Chang, Yung-Yee; Lan, Min-Yu; Chen, Ying-Fa; Tai, Chun-Hwei; Lin, Yung-Feng; Tsai, Shih-Feng; PEI-LUNG CHEN ; CHIN-HSIEN LIN | Journal of Molecular Diagnostics | 9 | 6 | |
25 | 2022 | Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite | Lin, Mao-Jan; Lin, Yu-Chun; Chen, Nae-Chyun; Luo, Allen Chilun; Lai, Sheng-Kai; Hsu, Chia-Lang; Jacob Shujui Hsu ; Chen, Chien-Yu; WEI-SHIUNG YANG ; PEI-LUNG CHEN | Frontiers in Immunology | 1 | 1 | |
26 | 2022 | Investigating DYT1 in a Taiwanese dystonia cohort | MENG-CHEN WU ; Chang, Yung-Yee; Chen, Ying-Fa; Lan, Min-Yu; PEI-LUNG CHEN ; CHUN-HWEI TAI ; CHIN-HSIEN LIN | Journal of the Formosan Medical Association | 2 | 2 | |
27 | 2022 | Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study | Chen, Pey-Yu; Tsai, Cheng-Yu; Wu, Jiunn-Liang; Li, Yi-Lu; Wu, Che-Ming; Chen, Kuang-Chao; Hwang, Chung-Feng; Wu, Hung-Pin; Lin, Hung-Ching; Cheng, Yen-Fu; Lo, Ming-Yu; TIEN-CHEN LIU ; TING-HUA YANG ; PEI-LUNG CHEN ; Hsu, Chuan-Jen; CHEN-CHI WU | Ear and hearing | 1 | 1 | |
28 | 2022 | Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa | Lo, Jui-En; Cheng, Chia-Yi; CHANG-HAO YANG ; CHUNG-MAY YANG ; Chen, Yi-Chieh; Huang, Yu-Shu; PEI-LUNG CHEN ; TA-CHING CHEN | Translational Vision Science and Technology | 2 | 2 | |
29 | 2021 | Evaluation of using WGS/WES to characterize ACMG actionable genes in genetic testing reports | Yang W.-T.; Wu D.-C.; Liu J.-F.; JIN-BON HONG ; Wu J.-T.; PEI-LUNG CHEN ; CHIEN-YU CHEN | Proceedings - 2021 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2021 | 0 | 0 | |
30 | 2021 | Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan | TA-CHING CHEN ; Huang D.-S.; CHAO-WEN LIN ; CHANG-HAO YANG ; CHUNG-MAY YANG ; Wang V.Y.; JOU-WEI LIN ; Luo A.C.; FUNG-RONG HU ; PEI-LUNG CHEN | npj Genomic Medicine | 30 | 29 | |
31 | 2021 | The clinical contribution of full-field electroretinography and 8-year experiences of application in a tertiary medical center | Yang J.-J.; Huang C.-H.; CHANG-HAO YANG ; CHUNG-MAY YANG ; CHAO-WEN LIN ; TZYY-CHANG HO ; CHANG-PING LIN ; YI-TING HSIEH ; PO-TING YEH ; TSO-TING LAI ; PEI-LUNG CHEN ; TA-CHING CHEN | Journal of Personalized Medicine | 2 | 2 | |
32 | 2021 | Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia | HUEI-MING YEH ; Liao M.-H.; Chu C.-L.; Lin Y.-H.; WEI-ZEN SUN ; LING-PING LAI ; PEI-LUNG CHEN | Journal of the Formosan Medical Association | 7 | 3 | |
33 | 2021 | Hearing Impairment with Monoallelic GJB2 Variants: A GJB2 Cause or Non-GJB2 Cause? | Lin, Yi-Hsin; Wu, Ping-Che; Tsai, Cheng-Yu; Lin, Yin-Hung; Lo, Ming-Yu; Hsu, Shu-Jui; PEI-HSUAN LIN ; Erdenechuluun, Jargalkhuu; Wu, Hung-Pin; Hsu, Chuan-Jen; CHEN-CHI WU ; PEI-LUNG CHEN | Journal of Molecular Diagnostics | 8 | 4 | |
34 | 2021 | Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) | Sauter M.; Belousova E.; Benedik M.P.; Carter T.; Cottin V.; Curatolo P.; Dahlin M.; D’Amato L.; d’Aug?res G.B.; de Vries P.J.; Ferreira J.C.; Feucht M.; Fladrowski C.; Hertzberg C.; Jozwiak S.; Lawson J.A.; Macaya A.; Marques R.; Nabbout R.; O’Callaghan F.; Qin J.; Sander V.; Shah S.; Takahashi Y.; Touraine R.; Youroukos S.; Zonnenberg B.; Jansen A.; Kingswood J.C.; Shinohara N.; Horie S.; Kubota M.; Tohyama J.; Imai K.; Kaneda M.; Kaneko H.; Uchida Y.; Kirino T.; Endo S.; Inoue Y.; Uruno K.; Serdaroglu A.; Yapici Z.; Anlar B.; Altunbasak S.; Lvova O.; Belyaev O.V.; Agranovich O.; Levitina E.V.; Maksimova Y.V.; Karas A.; Jiang Y.; Zou L.; Xu K.; Zhang Y.; Luan G.; Zhang Y.; Wang Y.; Jin M.; Ye D.; Liao W.; Zhou L.; Liu J.; Liao J.; Yan B.; Deng Y.; Jiang L.; Liu Z.; Huang S.; Li H.; Kim K.; PEI-LUNG CHEN ; Lee H.-F.; Tsai J.-D.; Chi C.-S.; Huang C.-C.; Riney K.; Yates D.; Kwan P.; Likasitwattanakul S.; Nabangchang C.; Chomtho L.T.K.; Katanyuwong K.; Sriudomkajorn S.; Wilmshurst J.; Segel R.; Gilboa T.; Tzadok M.; Valevski A.F.; Papathanasopoulos P.; Papavasiliou A.S.; Giannakodimos S.; Gatzonis S.; Pavlou E.; Tzoufi M.; Vergeer A.M.H.; Dhooghe M.; Verhelst H.; Roelens F.; Nassogne M.C.; Defresne P.; De Waele L.; Leroy P.; Demonceau N.; Legros B.; Van Bogaert P.; Ceulemans B.; Dom L.; Castelnau P.; De Saint Martin A.; Riquet A.; Milh M.; Cances C.; Pedespan J.-M.; Ville D.; Roubertie A.; Auvin S.; Berquin P.; Richelme C.; Allaire C.; Gueden S.; Tich S.N.T.; Godet B.; Rojas M.L.R.F.; Planas J.C.; Bermejo A.M.; Dura P.S.; Aparicio S.R.; Gonzalez M.J.M.; Pison J.L.; Barca M.O.B.; Laso E.L.; Luengo O.A.; Rodriguez F.J.A.; Dieguez I.M.; Salas A.C.; Carrera I.M.; Salcedo E.M.; Petri M.E.Y.; Candela R.C.; da Conceicao Carrilho I.; Vieira J.P.; da Silva Oliveira Monteiro J.P.; de Oliveira Ferreira Leao M.J.S.; Luis C.S.M.R.; Mendonca C.P.; Endziniene M.; Strautmanis J.; Talvik I.; Canevini M.P.; Gambardella A.; Pruna D.; Buono S.; Fontana E.; Bernardina B.D.; Burloiu C.; Cosma I.S.B.; Vintan M.A.; Popescu L.; Zitterbart K.; Payerova J.; Bratsky L.; Zilinska Z.; Gruber-Sedlmayr U.; Baumann M.; Haberlandt E.; Rostasy K.; Pataraia E.; Elmslie F.; Johnston C.A.; Crawford P.; Uldall P.; Uvebrant P.; Rask O.; Bjoernvold M.; Brodtkorb E.; Sloerdahl A.; Solhoff R.; Jaatun M.S.G.; Mandera M.; Radzikowska E.J.; Wysocki M.; Fischereder M.; Kurlemann G.; Wilken B.; Wiemer-Kruel A.; Budde K.; Marquard K.; Knuf M.; Hahn A.; Hartmann H.; Merkenschlager A.; Trollmann R.; the TOSCA investigators | Orphanet Journal of Rare Diseases | 12 | 10 | |
35 | 2021 | Genetic spectrum and characteristics of hereditary optic neuropathy in Taiwan | CHAO-WEN LIN ; Huang C.-W.; Luo A.C.; Chou Y.-T.; Huang Y.-S.; PEI-LUNG CHEN ; TA-CHING CHEN | Genes | 3 | 3 | |
36 | 2021 | Hereditary hearing impairment with cutaneous abnormalities | Lee, Tung-Lin; PEI-HSUAN LIN ; PEI-LUNG CHEN ; JIN-BON HONG ; CHEN-CHI WU | Genes | 4 | 2 | |
37 | 2021 | Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan | Hsu J.-L.; CHIN-HSIEN LIN ; PEI-LUNG CHEN ; Lin K.-J.; TA-FU CHEN | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 3 | 3 | |
38 | 2021 | Metabolic syndromes as important comorbidities in patients of inherited retinal degenerations: Experiences from the nationwide health database and a large hospital-based cohort | Chiou G.-J.; Huang D.-S.; FUNG-RONG HU ; CHUNG-MAY YANG ; CHANG-HAO YANG ; Huang C.-W.; JOU-WEI LIN ; CHAO-WEN LIN ; TZYY-CHANG HO ; YI-TING HSIEH ; TSO-TING LAI ; Chen H.-M.; PEI-LUNG CHEN ; CHUHSING KATE HSIAO ; TA-CHING CHEN | International Journal of Environmental Research and Public Health | 1 | 0 | |
39 | 2020 | Cerebral microbleeds in autosomal dominant polycystic kidney disease | LI-KAI TSAI ; PEI-LUNG CHEN ; Tsai H.-H.; YA-FANG CHEN ; Wu P.-C.; JIANN-SHING JENG ; JENQ-WEN HUANG ; TZONG-SHINN CHU ; Kao J.T.-W. | Journal of Stroke | 3 | 3 | |
40 | 2020 | Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): New findings from the TOSCA TAND research project | PEI-LUNG CHEN | Journal of Neurodevelopmental Disorders | 16 | 15 | |
41 | 2020 | Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study | PEI-LUNG CHEN | Frontiers in Neurology | 16 | 16 | |
42 | 2020 | Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: Case series and literature review | Chu Y.-T.; Lin H.-Y.; PEI-LUNG CHEN ; CHIN-HSIEN LIN | BMC Neurology | 30 | 25 | |
43 | 2020 | The efficacy and safety of topical rapamycin–calcitriol for facial angiofibromas in patients with tuberous sclerosis complex: a prospective, double-blind, randomized clinical trial | PEI-LUNG CHEN ; Hong J.B.; LI-JIUAN SHEN ; Chen Y.T.; Wang S.J.; YI-HUA LIAO | British Journal of Dermatology | 13 | 12 | |
44 | 2020 | An integrative approach for pediatric auditory neuropathy spectrum disorders: revisiting etiologies and exploring the prognostic utility of auditory steady-state response | PEI-HSUAN LIN ; Hsu, Chuan-Jen; Lin, Yin-Hung; Lin, Yi-Hsin; Yang, Shu-Yu; TING-HUA YANG ; PEI-LUNG CHEN ; Chen-Chi Wu ; TIEN-CHEN LIU | Scientific Reports | 6 | 3 | |
45 | 2020 | Genotypes predispose phenotypes—clinical features and genetic spectrum of abca4-associated retinal dystrophies | Sung Y.-C.; CHANG-HAO YANG ; CHUNG-MAY YANG ; CHAO-WEN LIN ; Huang D.-S.; Huang Y.-S.; FUNG-RONG HU ; PEI-LUNG CHEN ; TA-CHING CHEN | Genes | 8 | 6 | |
46 | 2020 | Prediction Model for Audiological Outcomes in Patients With GJB2 Mutations | Chen P.-Y.; Lin Y.-H.; TIEN-CHEN LIU ; Lin Y.-H.; LI-HUI TSENG ; TING-HUA YANG ; PEI-LUNG CHEN ; Chen-Chi Wu ; Hsu C.-J. | Ear and hearing | 15 | 16 | |
47 | 2019 | Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study | PEI-LUNG CHEN | Epilepsia Open | 108 | 93 | |
48 | 2019 | Serum levels of insulin-like growth factor 1 are negatively associated with log transformation of thyroid-stimulating hormone in Graves' disease patients with hyperthyroidism or subjects with euthyroidism: A prospective observational study | FEN-YU TSENG ; Chen Y.-T.; Chi Y.-C.; PEI-LUNG CHEN ; WEI-SHIUNG YANG | Medicine | 5 | 5 | |
49 | 2019 | Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct | Lin Y.-H.; Chen-Chi Wu ; Lin Y.-H.; Lu Y.-C.; Chen C.-S.; TIEN-CHEN LIU ; PEI-LUNG CHEN ; Hsu C.-J. | Journal of Molecular Diagnostics | 10 | 7 | |
50 | 2019 | Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex | PEI-LUNG CHEN | Frontiers in Neurology | 20 | 14 | |
51 | 2019 | A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing | CHIN-HSIEN LIN ; PEI-LUNG CHEN ; CHUN-HWEI TAI ; Lin H.-I.; Chen C.-S.; Chen M.-L.; RUEY-MEEI WU | Movement Disorders | 64 | 58 | |
52 | 2019 | P53 ICE CRIM mouse: A tool to generate mutant allelic series in somatic cells and germ lines for cancer studies | Fan H.-H.; Shing Yu I.; Lin Y.-H.; Wang S.-Y.; Liaw Y.-H.; PEI-LUNG CHEN ; TSUNG-LIN YANG ; SHU-WHA LIN ; YOU-TZUNG CHEN | FASEB Journal | 1 | 1 | |
53 | 2019 | Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study | PEI-LUNG CHEN | Frontiers in Neurology | 19 | 18 | |
54 | 2019 | Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population | CHEN-CHI WU ; Tsai, Cheng-Yu; Lin, Yi-Hsin; Chen, Pey-Yu; PEI-HSUAN LIN ; Cheng, Yen-Fu; Wu, Che-Ming; Lin, Yin-Hung; Lee, Chee-Yee; Erdenechuluun, Jargalkhuu; TIEN-CHEN LIU ; PEI-LUNG CHEN ; Hsu, Chuan-Jen | Genes | 31 | 27 | |
55 | 2019 | Plectin Mutations in Progressive Familial Intrahepatic Cholestasis | Wu S.-H.; Jacob Shujui Hsu ; HUEY-LING CHEN ; Chien M.-M.; JIA-FENG WU ; YEN-HSUAN NI ; Liou B.-Y.; MING-CHIH HO ; YUNG-MING JENG ; MEI-HWEI CHANG ; PEI-LUNG CHEN | Hepatology | 10 | 7 | |
56 | 2019 | Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan | Yang W.; Chen S.-C.; Lai J.-Y.; Ming Y.-C.; Chen J.-C.; PEI-LUNG CHEN | Neurogastroenterology and Motility | 6 | 5 | |
57 | 2019 | HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome | YI-AN TU ; SUNG-JAN LIN ; PEI-LUNG CHEN ; Chou C.-H.; CHU-CHUN HUANG ; HONG-NERNG HO ; MEI-JOU CHEN | Journal of the Formosan Medical Association | 11 | 10 | |
58 | 2018 | A 1204-single nucleotide polymorphism and insertion–deletion polymorphism panel for massively parallel sequencing analysis of DNA mixtures | HSIAO-LIN HWA ; Chung W.-C.; PEI-LUNG CHEN ; Lin C.-P.; Li H.-Y.; Yin H.-I.; JAMES CHUN-I LEE | Forensic Science International: Genetics | 29 | 24 | |
59 | 2018 | The Lupus-Associated Fcγ Receptor IIb–I232T Polymorphism Results in Impairment in the Negative Selection of Low-Affinity Germinal Center B Cells Via c-Abl in Mice | Jhou J.-P.; Yu I.-S.; Hwai H.; Chen C.-S.; PEI-LUNG CHEN ; SHIANG-JONG TZENG | Arthritis and Rheumatology | 4 | 2 | |
60 | 2018 | Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations | Erdenechuluun, Jargalkhuu; Lin, Yin-Hung; Ganbat, Khongorzul; Bataakhuu, Delgermaa; Makhbal, Zaya; Tsai, Cheng-Yu; Lin, Yi-Hsin; Chan, Yen-Hui; Hsu, Chuan-Jen; WEI-CHUNG HSU ; PEI-LUNG CHEN ; CHEN-CHI WU | PLoS ONE | 11 | 11 | |
61 | 2018 | Using Ion Torrent sequencing to study genetic mutation profiles of fatal thyroid cancers | JIN-YING LU ; WERN-CHERNG CHENG ; KUEN-YUAN CHEN ; CHIA-CHI LIN ; CHING-CHUNG CHANG ; KUAN-TING KUO ; PEI-LUNG CHEN | Journal of the Formosan Medical Association | 3 | 1 | |
62 | 2018 | Serum levels of fetuin-A are negatively associated with log transformation levels of thyroid-stimulating hormone in patients with hyperthyroidism or euthyroidism: An observational study at a medical center in Taiwan | FEN-YU TSENG ; Chen Y.-T.; Chi Y.-C.; PEI-LUNG CHEN ; WEI-SHIUNG YANG | Medicine (United States) | 4 | 3 | |
63 | 2018 | Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) | Vallejo-Vaz A.J.; Marco M.D.; Stevens C.A.T.; Akram A.; Freiberger T.; Hovingh G.K.; Kastelein J.J.P.; Mata P.; Raal F.J.; Santos R.D.; Soran H.; Jambart S.; Khoury P.E.; Gargalskaite U.; Kutkiene S.; Al-Khateeb A.; An C.Y.; Ismail Z.; Kasim S.; Ibrahim K.S.; Al-Sarraf A.; Torlak V.A.; Radzi A.B.M.; Kasim N.A.; Nor N.S.M.; Ramli A.S.; Razak S.A.; Muid S.; Rosman A.; Sanusi A.R.; Razman A.Z.; Nazli S.A.; Jannes C.E.; Ashavaid T.F.; Kek T.L.; Azzopardi C.; Aguilar Salinas C.A.; Gal?n G.; Rubinstein A.; Maga?a-Torres M.T.; Martagon A.; Mehta R.; Wittekoek M.E.; Krieger J.E.; Isara A.R.; Binder C.J.; Obaseki D.E.; Ohenhen O.A.; Holven K.B.; Grucha?a M.; Baranowska M.; Borowiec-Wolny J.; Gilis-Malinowska N.; Michalska-Grzonkowska A.; Pereira A.C.; Pajkowski M.; Parczewska A.; Bogsrud M.P.; Romanowska-Kocejko M.; Str??yk A.; ?arczy?ska-Buchowiecka M.; Kleinschmidt M.; Alves A.C.; Medeiros A.M.; Ershova A.; Ruel I.; Korneva V.; Kuznetsova T.; Malyshev P.; Bourbon M.; Meshkov A.; Rozhkova T.; Popovic L.; Lukac S.S.; Stosic L.; Rasulic I.; Asenjo S.; Lalic N.M.; Chua T.S.J.; Ting S.P.L.; Raslova K.; Bruckert E.; Battelino T.; Cevc M.; Jug B.; Kovac J.; Podkrajsek K.T.; Cuevas A.; Sustar U.; Trontelj K.J.; Marais D.; Isla L.P.; Martin F.J.; Chlebus K.; Charng M.-J.; PEI-LUNG CHEN ; Kayik?ioglu M.; Dell’oca N.; Pe?in I.; Fern?ndez G.; Ressia A.; Reyes X.; Zelarayan M.; Alieva R.B.; Hoshimov S.U.; Corral P.; Nizamov U.I.; Kurbanov R.D.; Lima-Mart?nez M.M.; Miltiadous G.; Nguyen M.-N.T.; Do D.-L.; Kim N.-T.; Le T.-T.; Le H.-A.; Descamps O.; Durst R.; Ezhov M.; Fras Z.; Genest J.; Panayiotou A.G.; Groselj U.; Harada-Shiba M.; Kayikcioglu M.; Lalic K.; Lam C.S.P.; Latkovskis G.; Laufs U.; Liberopoulos E.; Lin J.; Maher V.; Watts G.F.; Majano N.; Marais A.D.; M?rz W.; Mirrakhimov E.; Miserez A.R.; Mitchenko O.; Nawawi H.M.; Nordestgaard B.G.; Paragh G.; Petrulioniene Z.; Vrablik M.; Pojskic B.; Postadzhiyan A.; Reda A.; Reiner ?.; Sadoh W.E.; Sahebkar A.; Shehab A.; Shek A.B.; Stoll M.; TA-CHEN SU ; Benn M.; Subramaniam T.; Susekov A.V.; Symeonides P.; Tilney M.; Tomlinson B.; Truong T.-H.; Tselepis A.D.; Tybj?rg-Hansen A.; V?zquez-C?rdenas A.; Viigimaa M.; Heinsar S.; Vohnout B.; Wid?n E.; Yamashita S.; Banach M.; Gaita D.; Jiang L.; Nilsson L.; Santos L.E.; Schunkert H.; Tokg?zo?lu L.; B?liard S.; Car J.; Catapano A.L.; Ray K.K.; Schreier L.; Pang J.; Dieplinger H.; Hanauer-Mader G.; Desutter J.; Langlois M.; Mertens A.; Gouni-Berthold I.; Rietzschel E.; Wallemacq C.; Isakovic D.; Dzankovic A.M.; Obralija J.; Pojskic L.; Sisic I.; Stimjanin E.; Hengstenberg W.; Julius U.; Kassner U.; Klose G.; K?nig C.; Abifadel M.; K?nig W.; Otte B.; Parhofer K.; Schatz U.; Schmidt N.; Steinhagen-Thiessen E.; Vogt A.; Antza C.; Athyros V.; Bilianou E.; Aguilar-Salinas C.A.; Boufidou A.; Chrousos G.; Elisaf M.; Garoufi A.; Katsiki N.; Kolovou G.; Kotsis V.; Rallidis L.; Rizos C.; Skalidis E.; Al-Khnifsawi M.; Skoumas I.; Tziomalos K.; Shawney J.P.S.; Abbaszadegan M.R.; Aminzadeh M.; Hosseini S.; Mobini M.; Vakili R.; Zaeri H.; Agar R.; Alkindi F.A.; Boran G.; Colwell N.; Crowley V.; Durkin M.; Griffin D.; Kelly M.; Rakovac-Tisdall A.; Bitzur R.; Cohen H.; Eliav O.; Alnouri F.; Ellis A.; Gavish D.; Harats D.; Henkin Y.; Knobler H.; Leavit L.; Leitersdorf E.; Schurr D.; Shpitzen S.; Szalat A.; Alonso R.; Arca M.; Averna M.; Bertolini S.; Calandra S.; Tarugi P.; Erglis A.; Gilis D.; Nesterovics G.; Saripo V.; Upena-Roze A.; Al-Rasadi K.; Elbitar S. | Atherosclerosis | 152 | 138 | |
64 | 2018 | Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan | Hsiung Y.-C.; Lin P.-C.; Chen C.-S.; YI-CHING TUNG ; WEI-SHIUNG YANG ; PEI-LUNG CHEN ; TA-CHEN SU | Atherosclerosis | 11 | 10 | |
65 | 2018 | Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan | YI-CHING TUNG ; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; WEI-SHIUNG YANG ; WUH-LIANG HWU ; PEI-LUNG CHEN ; Tsai W.-Y. | Pediatric Diabetes | 7 | 6 | |
66 | 2018 | Oncogenic Function of a KIF5B-MET Fusion Variant in Non-Small Cell Lung Cancer | Gow C.-H.; Liu Y.-N.; Li H.-Y.; MIN-SHU HSIEH ; Chang S.-H.; Luo S.-C.; TZU-HSIU TSAI ; PEI-LUNG CHEN ; Tsai M.-F.; JIN-YUAN SHIH | Neoplasia (United States) | 22 | 22 | |
67 | 2018 | Thyrotropin receptor antibodies and a genetic hint in antithyroid drug-induced adverse drug reactions | LIN-CHAU CHANG ; Chang C.-C.; PEI-LUNG CHEN ; Wang S.-H.; Chen Y.-H.; Tsai Y.-H.; SHYANG-RONG SHIH ; WEI-YIH CHIU ; Fann C.S.-J.; WEI-SHIUNG YANG ; TIEN-CHUN CHANG | Expert Opinion on Drug Safety | 5 | 5 | |
68 | 2018 | ABO genotyping with next-generation sequencing to resolve heterogeneity in donors with serology discrepancies | Wu P.C.; Lin Y.-H.; Tsai L.F.; Chen M.H.; PEI-LUNG CHEN ; Pai S.-C. | Transfusion | 32 | 25 | |
69 | 2017 | Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: A case report and literature review | Lin H.-C.; CHIN-HSIEN LIN ; PEI-LUNG CHEN ; Cheng S.-J.; Chen P.-H. | BMC Neurology | 12 | 10 | |
70 | 2017 | Identification of a novel HLA-B allele, HLA-B*40:238, in a Taiwanese individual | Lee H.-L.; Lai S.-K.; PEI-LUNG CHEN ; Chu C.-C. | HLA | 3 | 1 | |
71 | 2017 | 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 | Chen Y.-F.; Chang Y.-Y.; Lan M.-Y.; PEI-LUNG CHEN ; CHIN-HSIEN LIN | BMC Neurology | 22 | 14 | |
72 | 2017 | A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss | Lin Y.-H.; Lin Y.-H.; Lu Y.-C.; TIEN-CHEN LIU ; Chen C.-Y.; Hsu C.-J.; PEI-LUNG CHEN ; CHIEN-YU CHEN ; CHEN-CHI WU | Scientific Reports | 20 | 19 | |
73 | 2017 | Early measurement of IL-10 predicts the outcomes of patients with acute respiratory distress syndrome receiving extracorporeal membrane oxygenation /631/250/127 /692/53/2422 /13 /13/21 /13/31 /45/23 article | Liu C.-H.; SHUENN-WEN KUO ; Ko W.-J.; Tsai P.-R.; Wu S.-W.; Lai C.-H.; CHIH-HSIEN WANG ; YIH-SHARNG CHEN ; PEI-LUNG CHEN ; Liu T.-T.; SHU-CHIEN HUANG ; TZUU-SHUH JOU | Scientific Reports | 24 | 20 | |
74 | 2016 | KCNN2 polymorphisms and cardiac tachyarrhythmias | CHIH-CHIEH YU ; CHIA-TI TSAI ; PEI-LUNG CHEN ; CHO-KAI WU ; Chiu, Fu-Chun; FU-TIEN CHIANG ; Chen, Peng-Sheng; CHI-LING CHEN ; LIAN-YU LIN ; JYH-MING JIMMY JUANG ; LI-TING HO ; Lai, Ling-Ping; WEI-SHIUNG YANG ; JIUNN-LEE LIN | Medicine | 9 | 11 | |
75 | 2016 | Clinical heterogeneity of LRRK2 p.I2012T mutation | Fan T.-S.; RUEY-MEEI WU ; PEI-LUNG CHEN ; TA-FU CHEN ; Li H.-Y.; Lin Y.-H.; Chen C.-Y.; Chen M.-L.; CHUN-HWEI TAI ; Lin H.-I.; CHIEN-YU CHEN | Parkinsonism and Related Disorders | 14 | 14 | |
76 | 2016 | Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer | PO-HAN LIN ; WEN-HUNG KUO ; Huang A.-C.; YEN-SHEN LU ; CHING-HUNG LIN ; SUNG-HSIN KUO ; Wang M.-Y.; Liu C.-Y.; Cheng F.T.-F.; Yeh M.-H.; Li H.-Y.; Yang Y.-H.; Hsu Y.-H.; Fan S.-C.; Li L.-Y.; SUNG-LIANG YU ; KING-JEN CHANG ; PEI-LUNG CHEN ; YEN-HSUAN NI ; CHIUN-SHENG HUANG | Oncotarget | 74 | 64 | |
77 | 2016 | Serum Spot 14 concentration is negatively associated with thyroid-stimulating hormone level | Chen Y.-T.; FEN-YU TSENG ; PEI-LUNG CHEN ; Chi Y.-C.; DER-SHENG HAN ; WEI-SHIUNG YANG | Medicine (United States) | 3 | 3 | |
78 | 2016 | Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response | JIN-YING LU ; Hung, Po-Ju; PEI-LUNG CHEN ; RUOH-FANG YEN ; KUAN-TING KUO ; TSUNG-LIN YANG ; CHIH-YUAN WANG ; TIEN-CHUN CHANG ; TIEN-SHANG HUANG ; CHING-CHUNG CHANG | Endocrinology, diabetes & metabolism case reports | 5 | 0 | |
79 | 2016 | Serum levels of follistatin are positively associated with serum-free thyroxine levels in patients with hyperthyroidism or euthyroidism | FEN-YU TSENG ; Chen Y.-T.; Chi Y.-C.; PEI-LUNG CHEN ; WEI-SHIUNG YANG | Medicine (United States) | 5 | 4 | |
80 | 2016 | Next generation sequencing yields the complete mitochondrial genome of the flathead mullet, Mugil cephalus cryptic species NWP2 (Teleostei: Mugilidae) | Shen K.-N.; Yen T.-C.; Chen C.-H.; Li H.-Y.; PEI-LUNG CHEN ; Hsiao C.-D. | Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis | 33 | 32 | |
81 | 2016 | First step towards precision medicine for antithyroid drug-induced agranulocytosis | PEI-LUNG CHEN ; Fann C.S.-J.; SHYANG-RONG SHIH ; WEI-SHIUNG YANG ; TIEN-CHUN CHANG | The Lancet Diabetes and Endocrinology | 1 | 1 | |
82 | 2015 | Association Between Serum Levels of Adipocyte Fatty Acid-binding Protein and Free Thyroxine | FEN-YU TSENG ; PEI-LUNG CHEN ; Chen, Yen-Ting; Chi, Yu-Chao; SHYANG-RONG SHIH ; CHIH-YUAN WANG ; CHI-LING CHEN ; WEI-SHIUNG YANG | Medicine | 6 | 6 | |
83 | 2015 | Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study | PEI-LUNG CHEN ; SHYANG-RONG SHIH ; Wang, Pei-Wen; Lin, Ying-Chao; Chu, Chen-Chung; Lin, Jung-Hsin; Chen, Szu-Chi; CHING-CHUNG CHANG ; TIEN-SHANG HUANG ; KEH-SUNG TSAI ; FEN-YU TSENG ; CHIH-YUAN WANG ; JIN-YING LU ; WEI-YIH CHIU ; Chang, Chien-Ching; Chen, Yu-Hsuan; Chen, Yuan-Tsong; Fann, Cathy Shen-Jang; WEI-SHIUNG YANG ; TIEN-CHUN CHANG | Nature communications | 77 | 67 | |
84 | 2015 | Long-term cochlear implant outcomes in children with GJB2 and SLC26A4 mutations | Wu C.-M.; Ko H.-C.; Tsou Y.-T.; Lin Y.-H.; Lin J.-L.; Chen C.-K.; PEI-LUNG CHEN ; Chen-Chi Wu | PLoS ONE | 39 | 36 | |
85 | 2015 | Identifying children with poor cochlear implantation outcomes using massively parallel sequencing | Chen-Chi Wu ; Lin Y.-H.; TIEN-CHEN LIU ; Lin K.-N.; WEI-SHIUNG YANG ; Hsu C.-J.; PEI-LUNG CHEN ; Wu C.-M. | Medicine (United States) | 49 | 40 | |
86 | 2015 | Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling | Liu Y.; Pham X.; Zhang L.; PEI-LUNG CHEN ; Burzynski G.; McGaughey D.M.; He S.; McGrath J.A.; Wolyniec P.; Fallin M.D.; Pierce M.S.; McCallion A.S.; Pulver A.E.; Avramopoulos D.; Valle D. | G3: Genes, Genomes, Genetics | 35 | 32 | |
87 | 2015 | Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome | MEI-JOU CHEN ; Wei S.-Y; WEI-SHIUNG YANG ; Wu T.-T; Li H.-Y; HONG-NERNG HO ; YU-SHIH YANG ; PEI-LUNG CHEN | Human Reproduction | 19 | 16 | |
88 | 2015 | An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report | Yu T.-Y.; Lin H.-S.; PEI-LUNG CHEN ; TIEN-SHANG HUANG | Journal of the Formosan Medical Association | 3 | 2 | |
89 | 2015 | Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing | Lin Y.-H.; Chen-Chi Wu ; Hsu T.-Y.; WEI-YIH CHIU ; Hsu C.-J.; PEI-LUNG CHEN | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis | 12 | 12 | |
90 | 2014 | A fault-tolerant method for HLA typing with PacBio data | Chang, Chia-Jung; PEI-LUNG CHEN ; WEI-SHIUNG YANG ; KUN-MAO CHAO | BMC Bioinformatics | 12 | 12 | |
91 | 2014 | Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population | Hsieh, Ai-Ru; Chang, Su-Wei; PEI-LUNG CHEN ; Chu, Chen-Chung; Hsiao, Ching-Lin; WEI-SHIUNG YANG ; Chang, Chien-Ching; Wu, Jer-Yuarn; Chen, Yuan-Tsong; TIEN-CHUN CHANG ; CHIAO-LONG HSIAO | BMC Genomics | 12 | 11 | |
92 | 2014 | Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: A case series | JIN-BON HONG ; PEI-LUNG CHEN ; YOU-TZUNG CHEN ; TSEN-FANG TSAI | Acta Dermato-Venereologica | 12 | 9 | |
93 | 2014 | STAT3 mediates regorafenib-induced apoptosis in hepatocellular carcinoma | Tai W.-T.; Chu P.-Y.; Shiau C.-W.; Chen Y.-L.; Li Y.-S.; Hung M.-H.; Chen L.-J.; PEI-LUNG CHEN ; Su J.-C.; Lin P.-Y.; Yu H.-C.; Chen K.-F. | Clinical Cancer Research | 79 | 72 | |
94 | 2013 | Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference | PEI-LUNG CHEN ; Northrup, Hope | Pediatric neurology | 663 | 545 | |
95 | 2013 | A genome-wide association analysis identifies novel susceptibility loci for coronary arterial lesions in patients with Kawasaki disease | MING-TAI LIN ; CHIA-LIN HSU ; PEI-LUNG CHEN ; WEI-SHIUNG YANG ; JOU-KOU WANG ; Fann C.S.J.; MEI-HWAN WU | Translational Research | 13 | 12 | |
96 | 2013 | Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment | Chen-Chi Wu ; Lin Y.-H.; Lu Y.-C.; PEI-JER CHEN ; WEI-SHIUNG YANG ; Hsu C.-J.; PEI-LUNG CHEN | PLoS ONE | 33 | 47 | |
97 | 2013 | Gene-wide tagging study of the effects of common genetic polymorphisms in the α subunits of the GABAA receptor on epilepsy treatment response | Hung C.-C.; PEI-LUNG CHEN ; Huang W.-M.; Tai J.J.; Hsieh T.-J.; Ding S.-T.; Hsieh Y.-W.; HORNG-HUEI LIOU | Pharmacogenomics | 16 | 17 | |
98 | 2013 | Identification of a novel HLA-B allele, B*07:162, in a Taiwanese individual | PEI-LUNG CHEN ; Lai S.-K.; WEI-SHIUNG YANG ; TIEN-CHUN CHANG ; Chu C.-C. | Tissue Antigens | 2 | 2 | |
99 | 2013 | Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference | PEI-LUNG CHEN | Pediatric Neurology | 1127 | 949 | |
100 | 2012 | Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas | CHENG-PING WANG ; TSENG-CHENG CHEN ; YIH-LEONG CHANG ; JENG-YUH KO ; TSUNG-LIN YANG ; Lo F.-Y.; Hu Y.-L.; PEI-LUNG CHEN ; Chen-Chi Wu ; PEI-JEN LOU | Oral Oncology | 10 | 9 | |
101 | 2011 | Clinical implication of the C allele of the ITPKC gene SNP rs28493229 in kawasaki disease: Association with disease susceptibility and BCG scar reactivation | MING-TAI LIN ; JOU-KOU WANG ; Yeh J.-I.; Sun L.-C.; PEI-LUNG CHEN ; JIA-FENG WU ; Chang C.-C.; Lee W.-L.; Shen C.-T.; Wang N.-K.; Wu C.-S.; Yeh S.-Z.; CHUN-AN CHEN ; SHUENN-NAN CHIU ; MEI-HWAN WU | Pediatric Infectious Disease Journal | 53 | 48 | |
102 | 2011 | Comprehensive genotyping in two homogeneous Graves' disease samples reveals major and novel HLA association alleles | PEI-LUNG CHEN ; Fann C.-S.-J.; Chu C.-C.; Chang C.-C.; Chang S.-W.; Hsieh H.-Y.; Lin M.; WEI-SHIUNG YANG ; TIEN-CHUN CHANG | PLoS ONE | 55 | 52 | |
103 | 2011 | Linkage and association on 8p21.2-p21.1 in schizophrenia | Fallin M.D.; Lasseter V.K.; Liu Y.; Avramopoulos D.; McGrath J.; Wolyniec P.S.; Nestadt G.; Liang K.-Y.; PEI-LUNG CHEN ; Valle D.; Pulver A.E. | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 25 | 22 | |
104 | 2010 | Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women | Liu Y.; PEI-LUNG CHEN ; McGrath J.; Wolyniec P.; Fallin D.; Nestadt G.; Liang K.-Y.; Pulver A.; Valle D.; Avramopoulos D. | Psychiatric Genetics | 39 | 34 | |
105 | 2009 | Human genetics of diabetes mellitus in Taiwan | PEI-LUNG CHEN ; WEI-SHIUNG YANG | Frontiers in Bioscience | 4 | 3 | |
106 | 2009 | Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia | PEI-LUNG CHEN ; Avramopoulos D.; Lasseter V.K.; McGrath J.A.; Fallin M.D.; Liang K.-Y.; Nestadt G.; Feng N.; Steel G.; Cutting A.S.; Wolyniec P.; Pulver A.E.; Valle D. | American Journal of Human Genetics | 74 | 70 | |
107 | 2009 | Familiality of novel factorial dimensions of schizophrenia | McGrath J.A.; Avramopoulos D.; Lasseter V.K.; Wolyniec P.S.; Fallin M.D.; Liang K.-Y.; Nestadt G.; Thornquist M.H.; Luke J.R.; PEI-LUNG CHEN ; Valle D.; Pulver A.E. | Archives of General Psychiatry | 62 | 55 | |
108 | 2008 | Family-based association study of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in Han population of Taiwan | PEI-LUNG CHEN ; Fann C.S.-J.; Chang C.-C.; Wu I.-L.; WEI-YIH CHIU ; Lin C.-Y.; WEI-SHIUNG YANG ; TIEN-CHUN CHANG | Genes and Immunity | 14 | 13 | |
109 | 2007 | Linkage of Graves' disease to the human leucocyte antigen region in the Chinese-Han population in Taiwan | PEI-LUNG CHEN ; Fann C.S.-J.; Chang C.-C.; Wu I.-L.; WEI-YIH CHIU ; Lin C.-Y.; WEI-SHIUNG YANG ; TIEN-CHUN CHANG | Clinical Endocrinology | 8 | 9 | |
110 | 2006 | Translational repression restricts expression of the C. elegans Nanos homolog NOS-2 to the embryonic germline | D'Agostino I.; Merritt C.; PEI-LUNG CHEN ; Seydoux G.; Subramaniam K. | Developmental Biology | 62 | 63 | |
111 | 2001 | Progress in genetic study on graves' disease | PEI-LUNG CHEN ; TIEN-CHUN CHANG | Journal of Internal Medicine of Taiwan |