Chung-Lin Lee

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 16

Top Topics

Congenital Heart Disease

Hematopoietic Stem Cell

Top Venues

Diagnostics (Basel, Switzerland)

Molecular genetics & genomic medicine

Journal of personalized medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (8) (2024)
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (8) (2024)
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (16) (2024)
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (8) (2024)
Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants. International journal of molecular sciences 23 (17) (2022)
Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis. Journal of personalized medicine 12 (8) (2022)
Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Shuan-Pei Lin, Chia-Jung Lee, Chih-Ping Chen
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review. Diagnostics (Basel, Switzerland) 12 (10) (2022)
Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan. Journal of personalized medicine 12 (5) (2022)
Hsiang-Yu Lin, Ya-Hui Chang, Chung-Lin Lee, Yuan-Rong Tu, Yun-Ting Lo, Pei-Wen Hung, Dau-Ming Niu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Chih-Kuang Chuang, Shuan-Pei Lin
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan. Journal of personalized medicine 12 (7) (2022)
Chung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. Medicina (Kaunas, Lithuania) 58 (1) (2021)
Chung-Lin Lee, Louis Tan Hock-Cheong Tan, Hsiang-Yu Lin, Paul Wuh-Liang Hwu, Hung-Chang Lee, Yin-Hsiu Chien, Chih-Kuang Chuang, Mei-Hwan Wu, Jou-Kou Wang, Shao-Yin Chu, Ju-Li Lin, Fu-Sung Lo, Pen-Hua Su, Chia-Chi Hsu, Yu-Yuan Ko, Ming-Ren Chen, Hui-Ching Chiu, Shuan-Pei Lin
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. American journal of medical genetics. Part A 182 (2) (2019)
Chung-Lin Lee, Hsiang-Yu Lin, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Wuh-Liang Hwu, Fuu-Jen Tsai, Pao-Chin Chiu, Dau-Ming Niu, Yann-Jang Chen, Mei-Chyn Chao, Tung-Ming Chang, Ju-Li Lin, Chia-Ying Chang, Yu-Chia Kao, Shuan-Pei Lin
Functional independence of Taiwanese patients with mucopolysaccharidoses. Molecular genetics & genomic medicine 7 (8) (2019)
Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Yin-Hsiu Chien, Ni-Chung Lee, Dau-Ming Niu, Mei-Chyn Chao, Fuu-Jen Tsai, Yen-Yin Chou, Chih-Kuang Chuang, Shuan-Pei Lin
Functional independence of Taiwanese children with Prader-Willi syndrome. American journal of medical genetics. Part A 176 (6) (2018)