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1. Full Text Type I interferonopathies in pediatric rheumatology
by Volpi, Stefano and Picco, Paolo and Caorsi, Roberta and Candotti, Fabio and Gattorno, Marco
Pediatric rheumatology online journal, ISSN 1546-0096, 06/2016, Volume 14, Issue 1, pp. 35 - 35
CANDLE | Type I interferonopathies | Familial lupus | Type I interferon | Aicardi-Goutières syndrome | SAVI | Pediatrics | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Proteome - genetics | Nervous System Malformations - immunology | Rare Diseases - immunology | Humans | Vascular Calcification - genetics | Rare Diseases - diagnosis | Arthritis, Juvenile - diagnosis | Metacarpus - abnormalities | Interferon Type I - immunology | Mutation - immunology | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Proteome - immunology | Lupus Erythematosus, Systemic - immunology | Osteoporosis - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Metacarpus - immunology | Osteochondrodysplasias - immunology | Osteoporosis - immunology | Signal Transduction | Vascular Calcification - immunology | Aortic Diseases - immunology | Autoimmune Diseases - immunology | Autoimmune Diseases - diagnosis | Mutation - genetics | Odontodysplasia - immunology | Lupus Erythematosus, Systemic - diagnosis | Autoimmune Diseases of the Nervous System - immunology | Dental Enamel Hypoplasia - immunology | Homozygote | Aortic Diseases - genetics | Muscular Diseases - immunology | Rare Diseases - therapy | Arthritis, Juvenile - immunology | Lupus Erythematosus, Systemic - genetics | Nervous System Malformations - diagnosis | Autoimmune Diseases - therapy | Interferon Type I - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Systemic lupus erythematosus | Rheumatic diseases | Practice | Interferon | Research | Children | Rheumatologists | Health aspects | Risk factors | Index Medicus
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2. Full Text Paediatric genomics: Diagnosing rare disease in children
by Wright, Caroline F and FitzPatrick, David R and Firth, Helen V
Nature reviews. Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, pp. 253 - 268
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Genetic Predisposition to Disease | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Genetic Variation | Adolescent | Female | Genome, Human | Genome-Wide Association Study - methods | Genomics - methods | Child | Infant, Newborn | Disease | Genomics | Genetic diversity | Children | Diagnosis | Medical diagnosis | Population genetics | Index Medicus
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3. 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 (Austin), ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Human | Diagnostics | Drosophila | Whole-exome sequencing | Zebrafish | Genetic diseases | Functional genomics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus | genetic diseases | diagnostics | functional genomics | Review | zebrafish | human | whole-exome sequencing
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4. Full Text Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
by Splinter, Kimberly and Adams, David R and Bacino, Carlos A and Bellen, Hugo J and Bernstein, Jonathan A and Cheatle-Jarvela, Alys M and Eng, Christine M and Esteves, Cecilia and Gahl, William A and Hamid, Rizwan and Jacob, Howard J and Kikani, Bijal and Koeller, David M and Kohane, Isaac S and Lee, Brendan H and Loscalzo, Joseph and Luo, Xi and McCray, Alexa T and Metz, Thomas O and Mulvihill, John J and Nelson, Stanley F and Palmer, Christina G.S and Phillips, John A and Pick, Leslie and Postlethwait, John H and Reuter, Chloe and Shashi, Vandana and Sweetser, David A and Tifft, Cynthia J and Walley, Nicole M and Wangler, Michael F and Westerfield, Monte and Wheeler, Matthew T and Wise, Anastasia L and Worthey, Elizabeth A and Yamamoto, Shinya and Ashley, Euan A and Undiagnosed Dis Network and Undiagnosed Diseases Network
The New England journal of medicine, ISSN 0028-4793, 11/2018, Volume 379, Issue 22, pp. 2131 - 2139
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Rare Diseases - genetics | Diagnosis, Differential | United States | Drosophila | Humans | Rare Diseases - diagnosis | Male | Sequence Analysis, DNA | Syndrome | Exome | National Institutes of Health (U.S.) | Animals | Health Care Costs - statistics & numerical data | Adult | Female | Models, Animal | Genetic Testing - economics | Child | Health care | Metabolomics | Genetic disorders | Teams | Genomes | Diagnosis | Medical diagnosis | Patients | Genetic screening | Index Medicus | Abridged Index Medicus
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5. 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
American journal of human genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
rare diseases | gene discovery | transcriptome sequencing | solving the unsolved | disease modeling | genome sequencing | IRDiRC | Matchmaker Exchange | ontologies | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | International Cooperation | Genome, Human | Databases, Factual | Genetic disorders | Diagnosis | International aspects | Genetic screening | Methods | Index Medicus
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6.