Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference H Northrup, DA Krueger, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 243-254, 2013 | 1647 | 2013 |
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference DA Krueger, H Northrup, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 255-265, 2013 | 917 | 2013 |
Overview of the current status of familial hypercholesterolaemia care in over 60 countries-The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) AJ Vallejo-Vaz, M De Marco, CAT Stevens, A Akram, T Freiberger, ... Atherosclerosis 277, 234-255, 2018 | 199 | 2018 |
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study R Nabbout, E Belousova, MP Benedik, T Carter, V Cottin, P Curatolo, ... Epilepsia Open 4 (1), 73-84, 2019 | 173 | 2019 |
Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study PL Chen, SR Shih, PW Wang, YC Lin, CC Chu, JH Lin, SC Chen, ... Nature communications 6 (1), 7633, 2015 | 114 | 2015 |
STAT3 mediates regorafenib-induced apoptosis in hepatocellular carcinoma WT Tai, PY Chu, CW Shiau, YL Chen, YS Li, MH Hung, LJ Chen, PL Chen, ... Clinical Cancer Research 20 (22), 5768-5776, 2014 | 110 | 2014 |
Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia PL Chen, D Avramopoulos, VK Lasseter, JA McGrath, MD Fallin, KY Liang, ... The American Journal of Human Genetics 84 (1), 21-34, 2009 | 107 | 2009 |
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer PH Lin, WH Kuo, AC Huang, YS Lu, CH Lin, SH Kuo, MY Wang, CY Liu, ... Oncotarget 7 (7), 8310, 2016 | 105 | 2016 |
Familiality of novel factorial dimensions of schizophrenia JA McGrath, D Avramopoulos, VK Lasseter, PS Wolyniec, MD Fallin, ... Archives of general psychiatry 66 (6), 591-600, 2009 | 98 | 2009 |
Translational repression restricts expression of the C. elegans Nanos homolog NOS-2 to the embryonic germline I D'Agostino, C Merritt, PL Chen, G Seydoux, K Subramaniam Developmental biology 292 (1), 244-252, 2006 | 97 | 2006 |
Comprehensive genotyping in two homogeneous Graves' disease samples reveals major and novel HLA association alleles PL Chen, CSJ Fann, CC Chu, CC Chang, SW Chang, HY Hsieh, M Lin, ... PloS one 6 (1), e16635, 2011 | 84 | 2011 |
Identifying children with poor cochlear implantation outcomes using massively parallel sequencing CC Wu, YH Lin, TC Liu, KN Lin, WS Yang, CJ Hsu, PL Chen, CM Wu Medicine 94 (27), e1073, 2015 | 83 | 2015 |
A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing CH Lin, PL Chen, CH Tai, HI Lin, CS Chen, ML Chen, RM Wu Movement Disorders 34 (4), 506-515, 2019 | 78 | 2019 |
Clinical implication of the C allele of the ITPKC gene SNP rs28493229 in Kawasaki disease: association with disease susceptibility and BCG scar reactivation MT Lin, JK Wang, JI Yeh, LC Sun, PL Chen, JF Wu, CC Chang, WL Lee, ... The Pediatric infectious disease journal 30 (2), 148-152, 2011 | 77 | 2011 |
Long-term cochlear implant outcomes in children with GJB2 and SLC26A4 mutations CM Wu, HC Ko, YT Tsou, YH Lin, JL Lin, CK Chen, PL Chen, CC Wu PLoS One 10 (9), e0138575, 2015 | 67 | 2015 |
Next generation sequencing yields the complete mitochondrial genome of the flathead mullet, Mugil cephalus cryptic species NWP2 (Teleostei: Mugilidae) KN Shen, TC Yen, CH Chen, HY Li, PL Chen, CD Hsiao Mitochondrial DNA Part A 27 (3), 1758-1759, 2016 | 56 | 2016 |
Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women Y Liu, PL Chen, J McGrath, P Wolyniec, D Fallin, G Nestadt, KY Liang, ... Psychiatric genetics 20 (4), 184-186, 2010 | 53 | 2010 |
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan TC Chen, DS Huang, CW Lin, CH Yang, CM Yang, VY Wang, JW Lin, ... NPJ Genomic Medicine 6 (1), 16, 2021 | 51 | 2021 |
Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling Y Liu, X Pham, L Zhang, P Chen, G Burzynski, DM McGaughey, S He, ... G3: Genes, Genomes, Genetics 5 (1), 61-72, 2015 | 49 | 2015 |
Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment CC Wu, YH Lin, YC Lu, PJ Chen, WS Yang, CJ Hsu, PL Chen PloS one 8 (2), e57369, 2013 | 45 | 2013 |