1. Yeh TC, Cheng HC, Li HY, Chi SC, Yang HY, Yu JY, Niu DM*, Wang AG. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases. Eye (Lond). 2022 Nov 28. (SCI, IF: 4.456, 11/62, OPHTHALMOLOGY)
2. eh TC, Niu DM, Cheng HC, Chen YR, Chen LZ, Tsui SP, Liao TE, Wang AG, Yang CF. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy. Mol Genet Metab Rep. 2022;33:100937. (SCI, IF: 2.082, 141/175, GENETICS & HEREDITY)
3. Yang CF, Liao TE, Chu YL, Chen LZ, Huang LY, Yang TF, Ho HC, Kao SM, Niu DM*. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme. J Med Genet. 2022 Sep 22:jmedgenet-2022-108675. (SCI, IF: 5.945, 20/191, GENETICS & HEREDITY)
4. Chen JE, Chen YR, Wang HH, Niu DM, Cheng YF, Chen YJ. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review. Pediatr Neonatol. 2022. S1875-9572(22)00157-7. (SCI, IF: 2.586, 67/130, PEDIATRICS)
5. Lin HY, Chang YH, Lee CL, Tu YR, Lo YT, Hung PW, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan. J Pers Med. 2022. 12(7):1023. (SCI, IF: 2.586, 67/130, PEDIATRICS)
6. Beck M, Ramaswami U, Hernberg-Ståhl E, Hughes DA, Kampmann C, Mehta AB, Nicholls K, Niu DM, Pintos-Morell G, Reisin R, West ML, Schenk J, Anagnostopoulou C, Botha J, Giugliani R. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet J Rare Dis. 2022;17(1):238. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
7. Chen YK, Teng CT, Yang CF, Niu DM, Huang WJ, Fan YH. Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: A single-centre cross-sectional study. Neurourol Urodyn. 2022 Jun;41(5):1177-1184. (SCI, IF: 2.367, 63/90, UROLOGY & NEPHROLOGY)
8. Lin NC, Tsai HL, Chen CY, Yeh YT, Lei HJ, Chou SC, Chung MH, Yang CF, Niu DM, Loong CC, Hsia CY, Liu CS. Safety and long-term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients. Pediatr Transplant. 2022 Jan 17:e14228. (SCI, IF: 1.551, 64/172, MEDICINE, GENERAL & INTERNAL)
9. Lee CL, Lin SP, Niu DM, Lin HY. Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis. Int J Med Sci. 2022;19(1):126-131. (SCI, IF: 3.642, 106/130, PEDIATRICS)
10. Liu MC, Wang MT, Chen PK, Niu DM, Fan Chiang YH, Hsieh MH, Tsai HC. Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function. Front Pediatr. 2021;9:729824. (SCI, IF: 3.569, 38/130, PEDIATRICS)
11. Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome. J Pers Med. 2021;11(11):1197. (SCI, IF: 3.508, 42/109, HEALTH CARE SCIENCES & SERVICES)
12. Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Yang CF, Tsai MC, Chu TH, Chuang CK, Lin SP. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. J Pers Med. 2021;11(11):1066. (SCI, IF: 3.508, 42/109, HEALTH CARE SCIENCES & SERVICES)
13. Chen WY, Niu DM, Chen LZ, Yang CF. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature. Mol Genet Metab Rep. 2021;29:100819. (SCI, IF: 2.082, 141/175, GENETICS & HEREDITY)
14. Lu DY, Huang WM, Wang WT, Hung SC, Sung SH, Chen CH, Yang YJ, Niu DM, Yu WC. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy. Eur Heart J Cardiovasc Imaging. 2021;23(4):487-495. (SCI, IF: 9.130, 19/143, CARDIAC & CARDIOVASCULAR SYSTEMS)
15. Wang TH, Soong WJ, Niu DM, Chu YL, Chen LZ, Huang LY, Yang CF. Airway abnormalities and pulmonary complications in long-term treated late-onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy. Pediatr Pulmonol. 2022;57(1):185-192. (SCI, IF: 4.090, 21/130, PEDIATRICS)
16. Hsueh CY, Huang CY, Yang CF, Chang CC, Lin WS, Cheng HL, Wu SL, Cheng YF, Niu DM*. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy. Orphanet J Rare Dis. 2021;16(1):348. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
17. Huang CC, Niu DM, Charng MJ. Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia. J Atheroscler Thromb. 2021; 29(5):639-653. (SCI, IF: 4.399, 27/67, PERIPHERAL VASCULAR DISEASE)
18. Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease. Mol Genet Genomic Med. 2021;9(5):e1666. (SCI, IF: 2.473, 122/175, GENETICS & HEREDITY)
19. Fan WP, Li HY, Tseng SY, Juan CC, Hwang B, Niu DM, Lee PC. Aortic regurgitation in Marfan syndrome patients who underwent prophylactic surgery: A single-center experience. J Chin Med Assoc. 2021 May 1;84(5):540-544. (SCI, IF: 3.396, 71/172, MEDICINE, GENERAL & INTERNAL)
20. Lin HY, Chen MR, Lee CL, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP. Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II. Orphanet J Rare Dis. 2021;16(1):99. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
21. Laney DA, Germain DP, Oliveira JP, Burlina AP, Cabrera GH, Hong GR, Hopkin RJ, Niu DM, Thomas M, Trimarchi H, Wilcox WR, Politei JM, Ortiz A. Fabry disease and COVID-19: international expert recommendations for management based on real-world experience. Clin Kidney J. 2020;13:913-925. (SCI, IF: 5.860, 17/90, UROLOGY & NEPHROLOGY)
22. Lin HY, Chen MR, Lee CL, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP.Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy. Diagnostics (Basel). 2020; 23;11(1):16. (SCI, IF: 3.992, 60/172, MEDICINE, GENERAL & INTERNAL)
23. Lin YF, Lin TC, Kirby R, Weng HY, Liu YM, Niu DM, Tsai SF, Yang CF. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay. Mol Genet Metab Rep. 2020;25:100686. (SCI, IF: 2.082, 141/175, GENETICS & HEREDITY)
24. Chen YC, Huang CY, Lee YT, Wu CH, Chang SK, Cheng HL, Chang PH, Niu DM*, Cheng YF. Audiological and otologic manifestations of glutaric aciduria type I. Orphanet J Rare Dis. 2020;15(1):337. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
25. Lin HY, Lee CL, Chang CY, Chiu PC, Chien YH, Niu DM, Tsai FJ, Hwu WL, Lin SJ, Lin JL, Chao MC, Chang TM, Tsai WH, Wang TJ, Chuang CK, Lin SP. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019). Orphanet J Rare Dis. 2020;15(1):314. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
26. Lee FS, Yen HJ, Niu DM, Hung GY, Lee CY, Yeh YC, Chen PC, Chang SK, Yang CF. Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease. Mol Genet Metab Rep. 2020;25:100652. (SCI, IF: 2.082, 141/175, GENETICS & HEREDITY)
27. Hughes DA, Aguiar P, Deegan PB, Ezgu F, Frustaci A, Lidove O, Linhart A, Lubanda JC, Moon JC, Nicholls K, Niu DM, Nowak A, Ramaswami U, Reisin R, Rozenfeld P, Schiffmann R, Svarstad E, Thomas M, Torra R, Vujkovac B, Warnock DG, West ML, Johnson J, Rolfe MJ, Feriozzi S. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. BMJ Open. 2020;10(10):e035182. (SCI, IF: 3.007, 86/172, MEDICINE, GENERAL & INTERNAL)
28. Wang WT, Sung SH, Liao JN, Hsu TR, Niu DM, Yu WC. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease. J Chin Med Assoc. 2020;83(9):825-829. (SCI, IF: 3.396, 71/172, MEDICINE, GENERAL & INTERNAL)
29. Liang KH, Lu YH, Niu CW, Chang SK, Chen YR, Cheng CY, Hsu TR, Yang CF, Nakamura K, Niu DM*. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago. J Hum Genet. 2020;65(7):619-625. (SCI, IF: 3.767, 80/175, GENETICS & HEREDITY)
30. Lin HY, Chuang CK, Lee CL, Chen MR, Sung KT, Lin SM, Hou CJ, Niu DM, Chang TM, Hung CL, Lin SP.. Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses. Diagnostics (Basel). 2020;10(2): 62. (SCI, IF: 3.992, 60/172, MEDICINE, GENERAL & INTERNAL)
31. Yang CF, Niu DM, Tai SK, Wang TH, Su HT, Huang LY, Soong WJ. Airway Abnormalities in Very Early Treated Infantile-Onset Pompe Disease: A Large-Scale Survey by Flexible Bronchoscopy. 2020; Am J Med Genet A. 182(4):721-729. (SCI, IF: 2.578, 119/175, GENETICS & HEREDITY)
32. Ramaswami U, Beck M, Hughes D, Kampmann C, Botha J, Pintos-Morell G, West ML, Niu DM, Nicholls K, Giugliani R; FOS Study Group. Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis. Drug Des Devel Ther. 2019;13:3705-3715. (SCI, IF: 4.319, 19/72, CHEMISTRY, MEDICINAL)
33. Lin HY, Lee CL, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Lin SJ, Lin JL, Chang TM, Chuang CK, Lin SP. Relationships Among Height, Weight, Body Mass Index, and Age in Taiwanese Children With Different Types of Mucopolysaccharidoses. Drug Des Devel Ther. 2019;13:3705–3715. (SCI, IF: 4.319, 19/72, CHEMISTRY, MEDICINAL)
34. Tseng SY, Niu DM, Chu TH, Yeh YC, Huang MH, Yang TF, Liao HC, Chiang CC, Ho HC, Soong WJ, Yang CF. Very rare condition of multiple Gaucheroma: A case report and review of the literature. Mol Genet Metab Rep. 2019;20:100489. (SCI, IF: 2.082, 141/175, GENETICS & HEREDITY)
35. Lee CL, Lin HY, Chuang CK, Chiu HC, Tu RY, Huang YH, Hwu WL, Tsai FJ, Chiu PC, Niu DM, Chen YJ, Chao MC, Chang TM, Lin JL, Chang CY, Kao YC, Lin SP. Functional independence of Taiwanese patients with mucopolysaccharidoses. Mol Genet Genomic Med. 2019;7(8):e790. (SCI, IF: 2.473, 122/175, GENETICS & HEREDITY)
36. Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP. Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III. Orphanet J Rare Dis. 2019;14(1):140. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
37. Chu TH, Chien YH, Lin HY, Liao HC, Ho HJ, Lai CJ, Chiang CC, Lin NC, Yang CF, Hwu WL, Lee NC, Lin SP, Liu CS, Hu RH, Ho MC, Niu DM*. Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. Orphanet J Rare Dis. 2019;14(1):73. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
38. Lin HY, Chan WC, Chen LJ, Lee YC, Yeh SI, Niu DM, Chiu PC, Tsai WH, Hwu WL, Chuang CK, Lin SP. Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses. Mol Genet Genomic Med. 2019;7(5):e00617. (SCI, IF: 2.473, 122/175, GENETICS & HEREDITY)
39. Lin HY, Chuang CK, Ke YY, Hsu CC, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Lin JL, Lin SP. Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA. Pediatr Neonatol. 2019;60(3):342-343. (SCI, IF: 2.586, 67/130, PEDIATRICS)
40. Lin HY, Lee CL, Lo YT, Wang TJ, Huang SF, Chen TL, Wang YS, Niu DM, Chuang CK, Lin SP. The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses. Mol Genet Genomic Med. 2018;6(6):982-992. (SCI, IF: 2.473, 122/175, GENETICS & HEREDITY)
41. Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chuang CK, Lin SP. Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA. Orphanet J Rare Dis. 2018;13(1):148. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
42. Lin HY, Chuang CK, Lee CL, Tu RY, Lo YT, Chiu PC, Niu DM, Fang YY, Chen TL, Tsai FJ, Hwu WL, Lin SJ, Chang TM, Lin SP. Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. Am J Med Genet A. 2018;176:1799-1809. (SCI, IF: 2.578, 119/175, GENETICS & HEREDITY)
43. Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening. Mol Genet Metab Rep. 2018;16:5-10. (SCI, IF: 2.082, 141/175, GENETICS & HEREDITY)
44. Hsu MJ, Chang FP, Lu YH, Hung SC, Wang YC , Yang AH, Lee HJ, Sung SH, Wang YF, Yu WC, Hsu TR, Huang PH, Chang SK, Ivan Dzhagalov , Hsu CL, Niu DM*. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients. Genetics in Medicine. 2018; 21(1):224-232. (SCI, IF: 8.864, 13/175, GENETICS & HEREDITY)
45. Lin HY, Chuang CK, Chen MR, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Lin SP. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS). Orphanet J Rare Dis. 2018 Jun 4;13(1):89. (SCI, IF: 4.302, 61/175, GENETICS & HEREDITY)
46. Lee CL, Lin HY, Tsai LP, Chiu HC, Tu RY, Huang YH, Chien YH, Lee NC, Niu DM, Chao MC, Tsai FJ, Chou YY, Chuang CK, Lin SP. Functional independence of Taiwanese children with Prader-Willi syndrome. Am J Med Genet A. 2018;176(6):1309-1314. (SCI, IF: 2.578, 119/175, GENETICS & HEREDITY)
47. Lu YH, Huang PH, Wang LY, Hsu TR, Li HY, Lee PC, Hsieh YP, Hung SC, Wang YC, Chang SK, Lee YT, Ho PH, Ho HC, Niu DM*. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA Mass Spectrometry. J Hum Genet. 2018;63(1):1-8. (SCI, IF: 3.767, 80/175, GENETICS & HEREDITY)