| # | Title | Journal | Year | Citations |
|---|
| 1 | Modeling fragile X syndrome in the <i>Fmr1</i> knockout mouse | Intractable and Rare Diseases Research | 2014 | 183 |
| 2 | Fragile X spectrum disorders | Intractable and Rare Diseases Research | 2014 | 150 |
| 3 | Development of chidamide for peripheral T-cell lymphoma, the first orphan drug approved in China | Intractable and Rare Diseases Research | 2016 | 134 |
| 4 | Current status of treatment for primary effusion lymphoma | Intractable and Rare Diseases Research | 2014 | 95 |
| 5 | Cardiac manifestations in Behcet's disease | Intractable and Rare Diseases Research | 2015 | 91 |
| 6 | Granulomatosis with polyangiitis (Wegener's disease): An updated review of ocular disease manifestations | Intractable and Rare Diseases Research | 2016 | 90 |
| 7 | Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa | Intractable and Rare Diseases Research | 2017 | 85 |
| 8 | Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives | Intractable and Rare Diseases Research | 2012 | 75 |
| 9 | Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment | Intractable and Rare Diseases Research | 2015 | 72 |
| 10 | Fragile X syndrome: A review of clinical management | Intractable and Rare Diseases Research | 2016 | 70 |
| 11 | A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management | Intractable and Rare Diseases Research | 2020 | 68 |
| 12 | Methylmalonic acidemia: Current status and research priorities | Intractable and Rare Diseases Research | 2018 | 63 |
| 13 | Comparison of the extraction and determination of serum exosome and miRNA in serum and the detection of miR-27a-3p in serum exosome of ALS patients | Intractable and Rare Diseases Research | 2018 | 57 |
| 14 | A compilation of national plans, policies and government actions for rare diseases in 23 countries | Intractable and Rare Diseases Research | 2018 | 56 |
| 15 | An overview of Compassionate Use Programs in the European Union member states | Intractable and Rare Diseases Research | 2016 | 54 |
| 16 | Epidemiology, diagnosis, and treatment of Wilson's disease | Intractable and Rare Diseases Research | 2017 | 54 |
| 17 | A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model | Intractable and Rare Diseases Research | 2015 | 53 |
| 18 | Role of metabolism during viral infections, and crosstalk with the innate immune system | Intractable and Rare Diseases Research | 2016 | 52 |
| 19 | The role of L-type amino acid transporter 1 in human tumors | Intractable and Rare Diseases Research | 2015 | 51 |
| 20 | Current treatment of atypical hemolytic uremic syndrome | Intractable and Rare Diseases Research | 2014 | 50 |
| 21 | A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment | Intractable and Rare Diseases Research | 2018 | 47 |
| 22 | Nipah virus disease: A rare and intractable disease | Intractable and Rare Diseases Research | 2019 | 47 |
| 23 | The current status of orphan drug development in Europe and the US | Intractable and Rare Diseases Research | 2014 | 46 |
| 24 | Fever as an important resource for infectious diseases research | Intractable and Rare Diseases Research | 2016 | 45 |
| 25 | Interferon-stimulated gene 20-kDa protein (ISG20) in infection and disease: Review and outlook | Intractable and Rare Diseases Research | 2017 | 45 |
| 26 | Medical students' knowledge and opinions about rare diseases: A case study from Poland | Intractable and Rare Diseases Research | 2019 | 42 |
| 27 | Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series | Intractable and Rare Diseases Research | 2017 | 41 |
| 28 | China has officially released its first national list of rare diseases | Intractable and Rare Diseases Research | 2018 | 41 |
| 29 | Sarcoidosis and the heart: A review of the literature | Intractable and Rare Diseases Research | 2015 | 40 |
| 30 | Classification and management of hepatolithiasis: A high-volume, single-center's experience | Intractable and Rare Diseases Research | 2012 | 39 |
| 31 | Current research on pycnodysostosis | Intractable and Rare Diseases Research | 2014 | 39 |
| 32 | Budd-Chiari syndrome and liver transplantation | Intractable and Rare Diseases Research | 2015 | 39 |
| 33 | The impact of the intestinal microbiome on bone health | Intractable and Rare Diseases Research | 2018 | 39 |
| 34 | Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands | Intractable and Rare Diseases Research | 2015 | 39 |
| 35 | <i>ARID1B</i>-mediated disorders: Mutations and possible mechanisms | Intractable and Rare Diseases Research | 2015 | 38 |
| 36 | Microglia express ABI3 in the brains of Alzheimer's disease and Nasu-Hakola disease | Intractable and Rare Diseases Research | 2017 | 37 |
| 37 | Acute liver failure and liver transplantation | Intractable and Rare Diseases Research | 2013 | 37 |
| 38 | Early electronic screen exposure and autistic-like symptoms | Intractable and Rare Diseases Research | 2018 | 36 |
| 39 | Pancreatic neuroendocrine tumors | Intractable and Rare Diseases Research | 2017 | 35 |
| 40 | Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases | Intractable and Rare Diseases Research | 2014 | 34 |
| 41 | Infection after total knee arthroplasty and its gold standard surgical treatment: Spacers used in two-stage revision arthroplasty | Intractable and Rare Diseases Research | 2017 | 33 |
| 42 | Evaluation of quality of life and risk factors affecting quality of life in adolescent idiopathic scoliosis | Intractable and Rare Diseases Research | 2015 | 32 |
| 43 | Aurora B: A new promising therapeutic target in cancer | Intractable and Rare Diseases Research | 2018 | 32 |
| 44 | Rosai-Dorfman disease and the heart | Intractable and Rare Diseases Research | 2016 | 31 |
| 45 | Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen | Intractable and Rare Diseases Research | 2019 | 31 |
| 46 | An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network | Intractable and Rare Diseases Research | 2014 | 29 |
| 47 | Cardiac manifestations of idiopathic pulmonary fibrosis | Intractable and Rare Diseases Research | 2016 | 28 |
| 48 | Review of targeted treatments in fragile X syndrome | Intractable and Rare Diseases Research | 2016 | 28 |
| 49 | Accessory lobes of the liver: A report of 3 cases and review of the literature | Intractable and Rare Diseases Research | 2012 | 28 |
| 50 | Anti-cytokine treatment for Takayasu arteritis: State of the art | Intractable and Rare Diseases Research | 2014 | 27 |
