标题/作者	年份
WikiPathways: connecting communities M Martens, A Ammar, A Riutta, A Waagmeester, DN Slenter, K Hanspers, ... Nucleic acids research 49 (D1), D613-D621	2021
Therapies for rare diseases: therapeutic modalities, progress and challenges ahead E Tambuyzer, B Vandendriessche, CP Austin, PJ Brooks, K Larsson, ... Nature Reviews Drug Discovery 19 (2), 93-111	2020
The use of machine learning in rare diseases: a scoping review J Schaefer, M Lehne, J Schepers, F Prasser, S Thun Orphanet journal of rare diseases 15, 1-10	2020
Drug repurposing for rare diseases HI Roessler, NVAM Knoers, MM van Haelst, G van Haaften Trends in pharmacological sciences 42 (4), 255-267	2021
GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2)	2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders B Sadikovic, MA Levy, J Kerkhof, E Aref-Eshghi, L Schenkel, A Stuart, ... Genetics in Medicine 23 (6), 1065-1074	2021
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1)	2022
Understudied proteins: opportunities and challenges for functional proteomics G Kustatscher, T Collins, AC Gingras, T Guo, H Hermjakob, T Ideker, ... Nature Methods 19 (7), 774-779	2022
Feasibility study to improve deep learning in OCT diagnosis of rare retinal diseases with few-shot classification TK Yoo, JY Choi, HK Kim Medical & Biological Engineering & Computing 59, 401-415	2021
Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38	2022
Disease prediction via graph neural networks Z Sun, H Yin, H Chen, T Chen, L Cui, F Yang IEEE Journal of Biomedical and Health Informatics 25 (3), 818-826	2020
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357	2022
Interpretable clinical genomics with a likelihood ratio paradigm PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ... The American Journal of Human Genetics 107 (3), 403-417	2020
The next generation of evidence-based medicine V Subbiah Nature medicine 29 (1), 49-58	2023
Progress, challenges and global approaches to rare diseases SC Groft, M Posada, D Taruscio Acta Paediatrica 110 (10), 2711-2716	2021
Rare genetic diseases: nature's experiments on human development CE Lee, KS Singleton, M Wallin, V Faundez IScience 23 (5)	2020
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems A Tisdale, CM Cutillo, R Nathan, P Russo, B Laraway, M Haendel, ... Orphanet journal of rare diseases 16, 1-18	2021
Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord TL Jensen, CR Gøtzsche, DPD Woldbye Frontiers in molecular neuroscience 14, 695937	2021
Genetic counseling: preconception, prenatal, and perinatal A Milunsky, JM Milunsky Genetic disorders and the fetus: Diagnosis, prevention, and treatment, 1-67	2015
Research and management of rare diseases in the COVID-19 pandemic era: challenges and countermeasures SF Chowdhury, SMA Sium, S Anwar Frontiers in public health 9, 640282	2021

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