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1. Rare diseases
: diagnoses, challenges and developing treatments
by Giovanni, Giorgio Di and Marcoz, Pietro
2013, Public health in the 21st century, ISBN 9781629485263
Rare diseases | Diseases
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2. Full Text Model organisms facilitate rare disease diagnosis and therapeutic research
by Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Posey, Jennifer E and Westerfield, Monte and Postlethwait, John and Hieter, Philip and Boycott, Kym M and Campeau, Philippe M and Bellen, Hugo J and Adams, David R and Hanchard, Neil A and Papp, Jeanette C and Alejandro, Mercedes E and Handley, Lori H and Parker, Neil H and Allard, Patrick and Herzog, Matthew R and Pena, Loren D. M and Ashley, Euan A and Holm, Ingrid A and Phillips, John A and Azamian, Mahshid S and Howerton, Ellen M and Bacino, Carlos A and Jacob, Howard J and Postlethwait, John H and Balasubramanyam, Ashok and Jain, Mahim and Potocki, Lorraine and Barseghyan, Hayk and Jiang, Yong-Hui and Pusey, Barbara N and Beggs, Alan H and Johnston, Jean M and Ramoni, Rachel B and Jones, Angela L and Robertson, Amy K and Bernstein, Jonathan A and Koeller, David M and Rodan, Lance H and Bican, Anna and Kohane, Isaac S and Rosenfeld, Jill A and Bick, David P and Kohler, Jennefer N and Samson, Susan L and Birch, Camille L and Krasnewich, Donna M and Schoch, Kelly and Boone, Braden E and Krieg, Elizabeth L and Schroeder, Molly C and Bostwick, Bret L and Krier, Joel B and Scott, Daryl A and Briere, Lauren C and Kyle, Jennifer E and Sharma, Prashant and Brown, Donna M and Lalani, Seema R and Shashi, Vandana and Brush, Matthew and Lau, C. Christopher and Silverman, Edwin K and Burke, Elizabeth A and Lazar, Jozef and Sinsheimer, Janet S and Burrage, Lindsay C and Lee, Brendan H and Soldatos, Ariane G and Chen, Shan and Lee, Hane and Spillmann, Rebecca C and Clark, Gary D and Levy, Shawn E and Splinter, Kimberly and Cogan, Joy D and Lewis, Richard A and Stoler, Joan M and Cooper, Cynthia M and Lincoln, Sharyn A and Stong, Nicholas and Craigen, William J and Lipson, Allen and Strong, Kimberly A and Davids, Mariska and Loo, Sandra K and Sullivan, Jennifer A and Dayal, Jyoti G and Loscalzo, Joseph and Sweetser, David A and Dell'Angelica, Esteban C and Maas, Richard L and Tifft, Cynthia J and Dhar, Shweta U and Macnamara, Ellen F and Toro, Camilo and Dillon, Ani and MacRae, Calum A and ... and UDN and Members of the Undiagnosed Diseases Network (UDN)
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic... 
Human | Diagnostics | Drosophila | Whole-exome sequencing | Zebrafish | Genetic diseases | Functional genomics | genetic diseases | RECURRENT DE-NOVO | METABOLIC CRISES | GENETIC-CONTROL | HEALTH UNDIAGNOSED DISEASES | functional genomics | diagnostics | CELL-DIVISION CYCLE | GENETICS & HEREDITY | zebrafish | FUNCTIONAL ANNOTATION | human | whole-exome sequencing | WEB-BASED TOOL | TRUNCATING MUTATIONS | GENOME-WIDE ASSOCIATION | DROSOPHILA RESEARCH | Rare Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Genetic Diseases, Inborn - therapy | Genetic Testing - methods | Zebrafish - genetics | Exome | Animals | Rare Diseases - therapy | Genetic Diseases, Inborn - diagnosis | Disease Models, Animal | Drosophila - genetics | Biomedical research | Yeast | Disease | Pathogenesis | Genomics | Genes | Research guides | Genomes | Organisms | Hybridization | Medical diagnosis | Cell cycle | Genetics | Physiology | Diagnosis | Medical research | Genetic disorders | Gene families | Organs | Genetic diversity | Diseases | Studies | Researchers | Insects | Collaboration | Diagnostic systems | Review
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3. Full Text Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis
by Li, Qigang and Zhao, Keyan and Bustamante, Carlos D and Ma, Xin and Wong, Wing H
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2126 - 2134
Purpose: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the... 
ACMG/AMP guideline | rare disease diagnosis | machine learning | variant prioritization | phenotype score | PLATFORM | PATHOGENICITY | GENETICS & HEREDITY | FRAMEWORK | MEDICAL GENETICS | SEMANTIC SIMILARITY | ACMG | AMP guideline
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4. Full Text Glycomics in rare diseases: from diagnosis tomechanism
by Davids, Mariska and Kane, Megan S and Wolfe, Lynne A and Toro, Camilo and Tifft, Cynthia J and Adams, David and Li, Xueli and Raihan, Mohd A and He, Miao and Gahl, William A and Boerkoel, Cornelius F and Malicdan, May Christine V
Translational Research, ISSN 1931-5244, 04/2019, Volume 206, pp. 5 - 17
The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) studies rare genetic disorders not only to achieve diagnoses, but to understand... 
Phenotype | Rare Diseases - blood | Glycomics | Humans | Rare Diseases - diagnosis | Rare Diseases - urine | Rare Diseases - metabolism | Phosphates | Medical research | Polysaccharides | Genetic disorders | Ligases | Medicine, Experimental | Diagnosis | Mass spectrometry
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5. Full Text The Challenge and promise of rare disease diagnosis in China
by Xin Ni Tieliu Shi
中国科学：生命科学英文版, ISSN 1674-7305, 2017, Volume 60, Issue 7, pp. 681 - 685
Rare diseases are chronic and serious,featuring early onset at birth or in childhood,rapid deterioration and high mortality rate,which creates a burden on... 
诊断 | Song | 中国 | 疾病 | 卫生系统 | 死亡率 | 患者 | Life Sciences | Life Sciences, general | BIOLOGY | Uveitis - diagnosis | Rhabdomyosarcoma - diagnosis | China | Humans | Arthritis - diagnosis | Rare Diseases - diagnosis | Bardet-Biedl Syndrome - diagnosis | Synovitis - diagnosis | Genetic Diseases, Inborn - diagnosis
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6. Full Text Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study
by Ronicke, Simon and Hirsch, Martin C and Türk, Ewelina and Larionov, Katharina and Tientcheu, Daphne and Wagner, Annette D
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 03/2019, Volume 14, Issue 1, pp. 69 - 12
BackgroundRare disease diagnosis is often delayed by years. A primary factor for this delay is a lack of knowledge and awareness regarding rare diseases.... 
Diagnostic decision support system | Time to diagnosis | Rare disease diagnosis | Probabilistic reasoning | Artificial intelligence | Ada DX | SUGGESTIONS IMPROVE ACCURACY | MEDICINE, RESEARCH & EXPERIMENTAL | ERRORS | GENETICS & HEREDITY | RANDOMIZED CONTROLLED-TRIAL | Decision support systems | Rare diseases | Usage | Diagnosis | Research | Brain | Ontology | Physicians | Medical diagnosis | Patients | Knowledge | Primary care | Quality of life | Accuracy | Medical errors | Cognition & reasoning | Search engines | Inheritances
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7. Full Text RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis
by Jia, JM and Wang, RY and An, ZX and Guo, YL and Ni, X and Shi, TL
FRONTIERS IN GENETICS, ISSN 1664-8021, 12/2018, Volume 9, p. 587
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of diseases, paving the way for new disease diagnostics. However,... 
phenotype | web-based tools | rare disease | DATABASE | INFORMATION | GENES | GENETICS & HEREDITY | machine learning | diagnostic model | DECISION-SUPPORT | Rare diseases | Usage | Nucleotide sequencing | Diagnosis | Machine learning | DNA sequencing
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8. Sapientia: Accelerating rare disease diagnosis and treatment
by Furness, Mike
Personalized Medicine, ISSN 1741-0541, 09/2016, Volume 13, Issue 5, pp. 415 - 418
Congenica (Cambridge, UK) is a world leading developer of genome-based discovery and diagnostic technologies. The UK company is a spin-out from the Wellcome... 
analytics | exome analysis | rare disease | genetic testing | Genomics England | whole-genome analysis | clinical phenotype | molecular diagnosis | PHARMACOLOGY & PHARMACY
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9. Full Text International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
by Boycott, Kym M and Rath, Ana and Chong, Jessica X and Hartley, Taila and Alkuraya, Fowzan S and Baynam, Gareth and Brookes, Anthony J and Brudno, Michael and Carracedo, Angel and den Dunnen, Johan T and Dyke, Stephanie O.M and Estivill, Xavier and Goldblatt, Jack and Gonthier, Catherine and Groft, Stephen C and Gut, Ivo and Hamosh, Ada and Hieter, Philip and Höhn, Sophie and Hurles, Matthew E and Kaufmann, Petra and Knoppers, Bartha M and Krischer, Jeffrey P and Macek, Milan and Matthijs, Gert and Olry, Annie and Parker, Samantha and Paschall, Justin and Philippakis, Anthony A and Rehm, Heidi L and Robinson, Peter N and Sham, Pak-Chung and Stefanov, Rumen and Taruscio, Domenica and Unni, Divya and Vanstone, Megan R and Zhang, Feng and Brunner, Han and Bamshad, Michael J and Lochmüller, Hanns
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,”... 
rare diseases | gene discovery | transcriptome sequencing | solving the unsolved | disease modeling | genome sequencing | IRDiRC | Matchmaker Exchange | ontologies | INTELLECTUAL DISABILITY | REGISTRIES | NETWORK | MATCHMAKER EXCHANGE | COLLABORATION | GENETICS & HEREDITY | DATABASES | IDENTIFICATION | INHERITANCE | CHALLENGES | HUMAN PHENOTYPE ONTOLOGY | Exome | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | International Cooperation | Genome, Human | Databases, Factual | Genetic disorders | Diagnosis | International aspects | Genetic screening | Methods
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10. Full Text ESCMID† and ECMM‡ joint clinical guidelines for the diagnosis and management of rare invasive yeast infections
by Arendrup, M.C and Boekhout, T and Akova, M and Meis, J.F and Cornely, O.A and Lortholary, O and European Society of Clinical Microbiology and Infectious Diseases Fungal Infection Study Group and European Confederation of Medical Mycology
Clinical Microbiology and Infection, ISSN 1198-743X, 04/2014, Volume 20, Issue Supplement 3, pp. 76 - 98
The mortality associated with invasive fungal infections remains high with that involving rare yeast pathogens other than being no exception. This is in part... 
Saprochaete | cryptococcus | Malassezia | Clinical guideline | Geotrichum | Rhodotorula | Pseudozyma | Kodamaea | Saccharomyces | Sporobolomyces | Trichosporon | Cryptococcus | Mycoses - diagnosis | Humans | Rare Diseases - drug therapy | Mycoses - drug therapy | Rare Diseases - diagnosis | Rare Diseases - microbiology | Practice guidelines (Medicine) | Candidiasis | Care and treatment | Diagnosis | Health aspects | Antifungal agents
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