Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 211 | 2018 |
Risk factors for development of acute kidney injury in patients with urinary tract infection CY Hsiao, HY Yang, MC Hsiao, PH Hung, MC Wang PloS one 10 (7), e0133835, 2015 | 86 | 2015 |
Risk factors for development of septic shock in patients with urinary tract infection CY Hsiao, HY Yang, CH Chang, HL Lin, CY Wu, MC Hsiao, PH Hung, ... BioMed Research International 2015 (1), 717094, 2015 | 48 | 2015 |
Decoding NF1 intragenic copy-number variations MC Hsiao, A Piotrowski, T Callens, C Fu, K Wimmer, KBM Claes, ... The American Journal of Human Genetics 97 (2), 238-249, 2015 | 32 | 2015 |
Urolithiasis is a risk factor for uroseptic shock and acute kidney injury in patients with urinary tract infection CY Hsiao, TH Chen, YC Lee, MC Hsiao, PH Hung, YY Chen, MC Wang Frontiers in Medicine 6, 288, 2019 | 30 | 2019 |
Risk factors for uroseptic shock in hospitalized patients aged over 80 years with urinary tract infection CY Hsiao, TH Chen, YC Lee, MC Hsiao, PH Hung, MC Wang Annals of translational medicine 8 (7), 2020 | 24 | 2020 |
Investigation into the genetics of fetal congenital lymphatic anomalies D Rogerson, A Alkelai, J Giordano, M Pantrangi, MC Hsiao, ... Prenatal diagnosis 43 (6), 703-716, 2023 | 15 | 2023 |
Palindrome‐Mediated and Replication‐Dependent Pathogenic Structural Rearrangements within the NF1 Gene MC Hsiao, A Piotrowski, J Alexander, T Callens, C Fu, FM Mikhail, ... Human Mutation 35 (7), 891-898, 2014 | 15 | 2014 |
An online conserved SSR discovery through cross-species comparison TW Pai, CM Chen, MC Hsiao, R Cheng, WS Tzou, CH Hu Advances and applications in bioinformatics and chemistry, 23-35, 2009 | 13 | 2009 |
Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis RK Jobling, I Lara‐Corrales, MC Hsiao, A Shugar, S Hedges, L Messiaen, ... British Journal of Dermatology 176 (4), 1077-1078, 2017 | 12 | 2017 |
Congenital stationary night blindness: clinical and genetic features AH Kim, PK Liu, YH Chang, EYC Kang, HH Wang, N Chen, YJ Tseng, ... International Journal of Molecular Sciences 23 (23), 14965, 2022 | 10 | 2022 |
Molecular profiling of CNS tumors for the treatment and management of disease Q Nie, MC Hsiao, H Chandok, S Rowe, M Prego, B Meyers, G Omerza, ... Journal of Clinical Neuroscience 71, 311-315, 2020 | 8 | 2020 |
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa N Chen, H Lee, AH Kim, PK Liu, EYC Kang, YJ Tseng, GH Seo, R Khang, ... BMC ophthalmology 22 (1), 441, 2022 | 6 | 2022 |
Identify SSR regulators for functional gene sets through cross-species comparison CM Chen, MC Hsiao, TW Pai, R Cheng, WS Tzou, MDT Chang Lecture notes in operations research 9, 204-211, 2008 | 4 | 2008 |
Molecular profiling of gynecologic cancers for treatment and management of disease–demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and … Q Nie, G Omerza, H Chandok, M Prego, MC Hsiao, B Meyers, A Hesse, ... Cancer Genetics 242, 25-34, 2020 | 3 | 2020 |
Clinical characteristics and genetic variants in Taiwanese patients with PROM1-related inherited retinal disorders TY Lin, PL Wu, EYC Kang, YC Chi, LA Jenny, PH Lin, CY Lee, CH Liu, ... Investigative Ophthalmology & Visual Science 64 (14), 25-25, 2023 | 2 | 2023 |
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling YH Chang, EYC Kang, L Liu, LA Jenny, R Khang, GH Seo, H Lee, ... Orphanet Journal of Rare Diseases 18 (1), 131, 2023 | 2 | 2023 |
Glycated hemoglobin< 6.5% is associated with uroseptic shock in diabetic patients with urinary tract infection YC Lee, TH Chen, MC Hsiao, PH Hung, SH Tung, CY Hsiao Frontiers in Medicine 7, 515506, 2020 | 2 | 2020 |
Mutation yield of a custom 212-gene next-generation sequencing panel for solid tumors: clinical experience of the first 260 cases tested using the JAX ActionSeq™ assay P Selvam, MC Hsiao, G Omerza, D Bergeron, S Rowe, J Uvalic, M Soucy, ... Molecular Diagnosis & Therapy 24, 103-111, 2020 | 2 | 2020 |
Path-46. Detecting misdiagnosed atypical teratoid/rhabdoid tumor (ATRT) by DNA methylation-based tumor classification MC Hsiao, L Holinka, M Peracchio, K Kelly, A Hesse, C Lau, H Reddi Neuro-Oncology 21 (Suppl 6), vi153, 2019 | 1 | 2019 |