International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Open accessAbstract
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases. Thus, continued research is required for moving toward a more complete catalog of disease-related genes and variants. The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to bring together researchers and organizations invested in rare disease research to develop a means of achieving molecular diagnosis for all rare diseases. Here, we review the current and future bottlenecks to gene discovery and suggest strategies for enabling progress in this regard. Each successful discovery will define potential diagnostic, preventive, and therapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patient population.
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The value of sharing genetic and phenotypic data from patients with suspected rare undiagnosed genetic diseases has fostered global collaborative networks designed to match patients with similar variants and/or phenotypes across continents.
“The value of sharing genetic and phenotypic data from those thought to harbour rare undiagnosed genetic diseases has fostered global collaborative networks (for example, Matchmaker Exchange, DECIPHER and GeneMatcher) designed to match patients with similar genetic variants and/or phenotypic manifestations, even across continents17–19.”
From A brief history of human disease genetics (2020) · cites this paper as [19]
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Cites
Update on Key Emerging Challenges in Cystic Fibrosis
Jennings, M. T., Riekert, K. A., & Boyle, M. (2014) · Medical Principles and Practice · doi:10.1159/000357646 · Cited by 3,667 · see citing works
Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1205 · Cited by 2,691 · see citing works
Self-citationA CFTR Potentiator in Patients with Cystic Fibrosis and the <i>G551D</i> Mutation
Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Dřevínek, P., Griese, M., McKone, E. F., Wainwright, C. E., Konstan, M. W., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1105185 · Cited by 2,195 · see citing works
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015) · Human Mutation · doi:10.1002/humu.22844 · Cited by 1,529 · see citing works
Self-citationClinGen — The Clinical Genome Resource
Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1406261 · Cited by 1,496 · see citing works
Self-citationMolecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA · doi:10.1001/jama.2014.14601 · Cited by 1,360 · see citing works
LOVD v.2.0: the next generation in gene variant databases
Fokkema, I. F. A. C., Taschner, P. E. M., Schaafsma, G. C. P., Celli, J., Laros, J. F. J., & den Dunnen, J. T. (2011) · Human Mutation · doi:10.1002/humu.21438 · Cited by 1,046 · see citing works
Clinical application of whole-exome sequencing across clinical indications
Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.148 · Cited by 1,036 · see citing works
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.017 · Cited by 1,034 · see citing works
Self-citationClinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero‐Rivera, F., Das, K., Toy, T. L., Harry, B., Yourshaw, M., et al. (2014) · JAMA · doi:10.1001/jama.2014.14604 · Cited by 973 · see citing works
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Köhler, S., Doelken, S., Mungall, C. J., Bauer, S., Firth, H., Bailleul-Forestier, I., Black, G., Brown, D. L., Brudno, M., Campbell, J., et al. (2013) · Nucleic Acids Res. · doi:10.1093/nar/gkt1026 · Cited by 840 · see citing works
Self-citationThe Human Phenotype Ontology in 2017
Köhler, S., Vasilevsky, N., Engelstad, M., Foster, E. D., McMurry, J. A., Aymé, S., Baynam, G. S., Bello, S. M., Boerkoel, C. F., Boycott, K. M., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw1039 · Cited by 757 · see citing works
Self-citationWright, C. F., Fitzgerald, T. W., Jones, W. D., Clayton, S., McRae, J. F., van Kogelenberg, M., King, D. A., Ambridge, K., Barrett, D. M., Bayzetinova, T., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(14)61705-0 · Cited by 728 · see citing works
Self-citationThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643 · see citing works
Self-citationClinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.003 · Cited by 590 · see citing works
Self-citationThe Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Philippakis, A., Azzariti, D. R., Beltrán, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., et al. (2015) · Human Mutation · doi:10.1002/humu.22858 · Cited by 470 · see citing works
Self-citationHagman, K. D. F., Shahmirzadi, L., El‐Khechen, D., Powis, Z., Chao, E., Davis, B. T., Baxter, R. M., Zeng, W., Mroske, C., Parra, M. C., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.154 · Cited by 469 · see citing works
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., Bennett, R. L., Jones, K. L., Tokita, M. J., Bennett, J. T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.006 · Cited by 385 · see citing works
Self-citationImproved exome prioritization of disease genes through cross-species phenotype comparison
Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research · doi:10.1101/gr.160325.113 · Cited by 375 · see citing works
Self-citationRath, A., Olry, A., Dhombres, F., Brandt, M., Urbero, B., & Aymé, S. (2012) · Human Mutation · doi:10.1002/humu.22078 · Cited by 367 · see citing works
Self-citationFramework for responsible sharing of genomic and health-related data
Knoppers, B. M. (2014) · The HUGO Journal · doi:10.1186/s11568-014-0003-1 · Cited by 349 · see citing works
Self-citationA comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
Alioto, T., Buchhalter, I., Derdak, S. V., Hutter, B., Eldridge, M., Hovig, E. J., Heisler, L. E., Beck, T. A., Simpson, J. T., Tonon, L., et al. (2015) · Nature Communications · doi:10.1038/ncomms10001 · Cited by 308 · see citing works
Self-citationSystematic discovery of nonobvious human disease models through orthologous phenotypes
McGary, K. L., Park, T. J., Woods, J. O., Ji, H. Y., Wallingford, J. B., & Marcotte, E. M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910200107 · Cited by 292 · see citing works
Smedley, D., Schubach, M., Jacobsen, J. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, N. L., McMurry, J. A., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.07.005 · Cited by 283 · see citing works
Self-citationŻemojtel, T., Köhler, S., Mackenroth, L., Jäger, M., Hecht, J., Krawitz, P. M., Graul-Neumann, L. M., Doelken, S. C., Ehmke, N., Spielmann, M., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3009262 · Cited by 252 · see citing works
Self-citationFORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
Beaulieu, C. L., Majewski, J., Schwartzentruber, J., Samuels, M. E., Fernandez, B. A., Bernier, F. P., Brudno, M., Knoppers, B. M., Marcadier, J., Dyment, D. A., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.003 · Cited by 239 · see citing works
Self-citationNewborn Sequencing in Genomic Medicine and Public Health
Berg, J. S., Agrawal, P. B., Bailey, D. B., Beggs, A. H., Brenner, S. E., Brower, A., Cakici, J. A., Ceyhan‐Birsoy, O., Chan, K., Chen, F., et al. (2017) · PEDIATRICS · doi:10.1542/peds.2016-2252 · Cited by 231 · see citing works
Self-citationA federated ecosystem for sharing genomic, clinical data
The Global Alliance for Genomics and Health* (2016) · Science · doi:10.1126/science.aaf6162 · Cited by 199 · see citing works
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Firdous, A., Selwa, H., Tarek, O., Sameera, S., Shazia, S., Salma, M., Mohamed, A., Rula, A., Īmān, A., Khalid, A., et al. (2015) · Genome Biology · doi:10.1186/s13059-015-0693-2 · Cited by 196 · see citing works
Self-citationThompson, R., Johnston, L., Taruscio, D., Monaco, L., Béroud, C., Gut, I. G., HANSSON, M. G., Hoen, P. '., Patrinos, G. P., Dawkins, H. J. S., et al. (2014) · Journal of General Internal Medicine · doi:10.1007/s11606-014-2908-8 · Cited by 190 · see citing works
Self-citationInternational Charter of principles for sharing bio-specimens and data
Mascalzoni, D., Dove, E. S., Rubinstein, Y., Dawkins, H. J. S., Kole, A., McCormack, P., Woods, S., Rieß, O., Schaefer, F. S., Lochmüller, H., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.197 · Cited by 154 · see citing works
Self-citationUsing ClinVar as a Resource to Support Variant Interpretation
Harrison, S. M., Riggs, E. R., Maglott, D. R., et al. (2016) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0816s89 · Cited by 131 · see citing works
Buske, O. J., Gîrdea, M., Dumitriu, S., et al. (2015) · Human Mutation · doi:10.1002/humu.22851 · Cited by 127 · see citing works
Elements of morphology: Introduction
Allanson, J. E., Biesecker, L. G., Carey, J. C., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32601 · Cited by 124 · see citing works
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
Gahl, W. A., Wise, A. L., & Ashley, E. A. (2015) · JAMA · doi:10.1001/jama.2015.12249 · Cited by 114 · see citing works
Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform
Gonzalez, M., Falk, M. J., Gai, X., Postrel, R., Schüle, R., & Zuchner, S. L. (2015) · Human Mutation · doi:10.1002/humu.22836 · Cited by 111 · see citing works
Bladen, C. L., Rafferty, K., Straub, V. W., et al. (2013) · Human Mutation · doi:10.1002/humu.22390 · Cited by 108 · see citing works
Chong, J. X., Yu, J., Lorentzen, P., Park, K. M., Jamal, S. M., Tabor, H. K., Rauch, A. M., Saenz, M. S., Boltshauser, E., Patterson, K., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.161 · Cited by 108 · see citing works
Self-citationHuman genotype–phenotype databases: aims, challenges and opportunities
Brookes, A. J., & Robinson, P. N. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3932 · Cited by 107 · see citing works
Self-citationPeplow, M. (2016) · BMJ · doi:10.1136/bmj.i1757 · Cited by 102 · see citing works
Taruscio, D., Groft, S. C., Cederroth, H., Melegh, B., Lasko, P. F., Kosaki, K., Baynam, G. S., McCray, A. T., & Gahl, W. A. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.11.003 · Cited by 84 · see citing works
Self-citationConsent Codes: Upholding Standard Data Use Conditions
Dyke, S. O. M., Philippakis, A., Rambla, J., Paltoo, D. N., Luetkemeier, E. S., Knoppers, B. M., Brookes, A. J., Spalding, D., Thompson, M., Roos, M., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005772 · Cited by 82 · see citing works
Self-citationFacilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER
Chatzimichali, E. A., Brent, S., Hutton, B., et al. (2015) · Human Mutation · doi:10.1002/humu.22842 · Cited by 76 · see citing works
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy
Shamseldin, H. E., Maddirevula, S., Faqeih, E., Ibrahim, N., Hashem, M., Shaheen, R., & Alkuraya, F. S. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.155 · Cited by 72 · see citing works
Self-citationP heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features
Hamosh, A., Sobreira, N. L. D. M., Hoover-Fong, J. E., Sutton, V. R., Boehm, C. D., Schiettecatte, F., & Valle, D. L. (2013) · Human Mutation · doi:10.1002/humu.22283 · Cited by 70 · see citing works
Self-citationAu, P. Y. B., You, J., Caluseriu, O., Schwartzentruber, J., Majewski, J., Bernier, F. P., Ferguson, M., Valle, D. L., Parboosingh, J. S., Sobreira, N. L. D. M., et al. (2015) · Human Mutation · doi:10.1002/humu.22837 · Cited by 66 · see citing works
Kirkpatrick, B. E., Riggs, E. R., Azzariti, D. R., Miller, V. R., Ledbetter, D. H., Miller, D. T., Rehm, H. L., Martin, C. L., Faucett, W. A., & Resource, O. B. O. T. C. (2015) · Human Mutation · doi:10.1002/humu.22838 · Cited by 66 · see citing works
Self-citationBuske, O. J., Schiettecatte, F., Hutton, B., Dumitriu, S., Misyura, A., Huang, L., Hartley, T., Gîrdea, M., Sobreira, N. L. D. M., Mungall, C., et al. (2015) · Human Mutation · doi:10.1002/humu.22850 · Cited by 53 · see citing works
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Self-citationLoucks, C. M., Parboosingh, J. S., Shaheen, R., et al. (2015) · Human Mutation · doi:10.1002/humu.22843 · Cited by 41 · see citing works
Lochmüller, H., Cam, Y. L., Jonker, A. H., et al. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.137 · Cited by 38 · see citing works
Self-citationUse of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
Mungall, C., Washington, N. L., Nguyen-Xuan, J., Condit, C., Smedley, D. P., Köhler, S., Groza, T., Shefchek, K., Hochheiser, H., Robinson, P. N., et al. (2015) · Human Mutation · doi:10.1002/humu.22857 · Cited by 37 · see citing works
Self-citationParticipant-Driven Matchmaking in the Genomic Era
Lambertson, K. F., Damiani, S. A., Might, M., Shelton, R., & Terry, S. F. (2015) · Human Mutation · doi:10.1002/humu.22852 · Cited by 29 · see citing works
Lancaster, O., Beck, T., Atlan, D., et al. (2015) · Human Mutation · doi:10.1002/humu.22841 · Cited by 28 · see citing works
Data Sharing in the Undiagnosed Diseases Network
Brownstein, C. A., Holm, I. A., Ramoni, R. B., Adams, D. R., & Members of the Undiagnosed Diseases Network (2015) · Human Mutation · doi:10.1002/humu.22840 · Cited by 24 · see citing works
Mitigating False-Positive Associations in Rare Disease Gene Discovery
Akle, S., Chun, S., Jordan, D. M., & Cassa, C. A. (2015) · Human Mutation · doi:10.1002/humu.22847 · Cited by 20 · see citing works
Jurgens, J. A., Sobreira, N. L. D. M., Modaff, P., et al. (2015) · Human Mutation · doi:10.1002/humu.22839 · Cited by 17 · see citing works
“Matching” consent to purpose: The example of the Matchmaker Exchange
Dyke, S. O. M., Knoppers, B. M., Hamosh, A., Firth, H. V., Hurles, M. E., Brudno, M., Boycott, K. M., Philippakis, A., & Rehm, H. L. (2017) · Human Mutation · doi:10.1002/humu.23278 · Cited by 15 · see citing works
Self-citationThe Genomic Birthday Paradox: How Much Is Enough?
Krawitz, P. M., Buske, O. J., Zhu, N., Brudno, M., & Robinson, P. N. (2015) · Human Mutation · doi:10.1002/humu.22848 · Cited by 14 · see citing works
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Foley, K. E. (2015) · Nature Medicine · doi:10.1038/nm1115-1242 · Cited by 10 · see citing works
Saudi Mendeliome Group (2015) · Genome biology · doi:10.1186/s13059-015-0798-7 · Cited by 9 · see citing works
Philippakis, A., Azzariti, D. R., Beltrán, S., et al. (2015) · Cited by 2 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- [21]Vasant, D., Chanas, L., Malone, J., Hanauer, M., Olry, A., Jupp, S., Robinson, P.N., Parkinson, H., and Rath, A. (2014). ORDO: An Ontology Connecting Rare Disease, Epidemiology and Genetic Data. Proceedings of the 22nd Annual International Conference on Intelligent Systems for Molecular Biology. https://www.researchgate.net/publication/281824026_ORDO_An_Ontology_Connecting_Rare_Disease_Epidemiology_and_Genetic_Data.
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A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
Self-citation100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
The 100, 0. G. P. P. I. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2035790 · Cited by 716 · see citing works
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1105 · Cited by 677 · see citing works
Self-citationCommon genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., et al. (2018) · Nature · doi:10.1038/s41586-018-0566-4 · Cited by 340 · see citing works
Self-citationA Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., et al. (2019) · Cell · doi:10.1016/j.cell.2019.02.040 · Cited by 177 · see citing works
Self-citationLi, Q., Zhao, K., Bustamante, C. D., Ma, X., & Wong, W. H. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0439-8 · Cited by 106 · see citing works
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Wheway, G., Genomics England Research Consortium, & Mitchison, H. M. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00127 · Cited by 99 · see citing works
eRAM: encyclopedia of rare disease annotations for precision medicine
Jia, J., An, Z., Ming, Y., Guo, Y., Li, W., Liang, Y., Guo, D., Li, X., Tai, J., Chen, G., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1062 · Cited by 35 · see citing works
- Authors
- Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., Dyke, S. O. M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S. C., Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M. E., Kaufmann, P., Knoppers, B. M., Krischer, J. P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A. A., Rehm, H. L., Robinson, P. N., Sham, P.-C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M. R., Zhang, F., Brunner, H., Bamshad, M. J., & Lochmüller, H.
- Affiliations
- University of Ottawa (CA)
- Inserm (FR)
- University of Washington (US)
- King Abdulaziz City for Science and Technology (SA)
- University of Leicester (GB)
- University of Toronto (CA)
- McGill University (CA)
- Hospital Universitario Dexeus (ES)
- National Institutes of Health (US)
- Universitat Pompeu Fabra (ES)
- Johns Hopkins University (US)
- University of British Columbia (CA)
- Wellcome Sanger Institute (GB)
- University of South Florida (US)
- KU Leuven (BE)
- Laboratoire de Physique des Matériaux et des Surfaces (FR)
- Broad Institute (US)
- The Jackson Laboratory for Genomic Medicine (US)
- University of Hong Kong (HK)
- Medical University Plovdiv (BG)
- Istituto Superiore di Sanità (IT)
- WuXi AppTec (China) (CN)
- Maastricht University Medical Centre (NL)
- Seattle Children's Hospital (US)
- Newcastle University (GB)
- Corresponding author
- Boycott, Kym M.
- ORCID
- Boycott, Kym M.
- Rath, Ana
- Chong, Jessica X.
- Hartley, Taila
- Alkuraya, Fowzan S.
- Baynam, Gareth
- Brookes, Anthony J.
- Brudno, Michael
- Dyke, Stephanie O.M.
- Estivill, Xavier
- Groft, Stephen C.
- Gut, Ivo
- Hamosh, Ada
- Hieter, Philip
- Höhn, Sophie
- Hurles, Matthew E.
- Knoppers, Bartha M.
- Krischer, Jeffrey P.
- Matthijs, Gert
- Olry, Annie
- Parker, Samantha
- Philippakis, Anthony A.
- Rehm, Heidi L.
- Robinson, Peter N.
- Sham, Pak-Chung
- Stefanov, Rumen
- Taruscio, Domenica
- Brunner, Han
- Bamshad, Michael J.
- Lochmüller, Hanns
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-05
- Volume
- 100
- Issue
- 5
- Pages
- 695-705
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5420351
- OpenAlex
- W2611574484
- Cited by
- 447
- References
- 62
- Citations by year
- 2026: 42 · 2025: 43 · 2024: 53 · 2023: 42 · 2022: 50 · 2021: 64 · 2020: 44 · 2019: 46 · 2018: 44 · 2017: 18
- FWCI
- 27.30
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- The American Journal of Human Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, cc-by)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Leiden Repository (Leiden University) (submittedVersion)
- Lirias (submittedVersion, other-oa)
- eSpace (Curtin University) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Leicester Research Archive (University of Leicester) (submittedVersion, cc-by-nc-nd)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Newcastle University ePrints (Newcastle Univesity) (cc-by)
- Funders
- University of Washington
- Johns Hopkins University
- Genome Canada
- Wellcome Trust (FP7/2007–2013, 201064/Z/16/Z)
- Ontario Genomics
- Ontario Genomics Institute
- European Commission (2014‐2020, 305444, 2007–2013, CZ.2.16/3.1.00/24022, FP7 2007-2013, FP7/2007, 305121)
- Canadian Institutes of Health Research
- Medical Research Council (98482, G1002274)
- National Heart, Lung, and Blood Institute
- National Human Genome Research Institute (U54HG006542, U54HG006493, U41HG006627, UM1HG008900, UM1HG006493)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- rare genetic disorders, molecular diagnosis, diagnostic odyssey, gene discovery, precision medicine, genetic counseling, international research cooperation
- MeSH terms
- Humans, International Cooperation, Genome, Human, Databases, Factual, Rare Diseases, Exome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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