References

ACMG Board of Directors. (2017). Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.Genetics in Medicine , 19 (7), 721–722. https://doi.org/10.1038/gim.2016.196
Arachchi, H., Wojcik, M. H., Weisburd, B., Jacobsen, J. O. B., Valkanas, E., Baxter, S., … Rehm, H. L. (2018). matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Human Mutation , 39 (12), 1827–1834. https://doi.org/10.1002/humu.23655
Bamshad, M. J., Ng, S. B., Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A., & Shendure, J. (2011). Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics ,12 (11), 745–755. https://doi.org/10.1038/nrg3031
Baynam, G., Walters, M., Claes, P., Kung, S., Lesouef, P., Dawkins, H., … Goldblatt, J. (2015, April 1). Phenotyping: Targeting genotype’s rich cousin for diagnosis. Journal of Paediatrics and Child Health , Vol. 51, pp. 381–386. Blackwell Publishing. https://doi.org/10.1111/jpc.12705
Bush, L. W., Beck, A. E., Biesecker, L. G., Evans, J. P., Hamosh, A., Holm, I. A., … Rehm, H. L. (2018). Professional responsibilities regarding the provision, publication and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider. A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine , 20 (2), 169-171. https://doi.org/10.1038/gim.2017.242
Buske, O. J., Girdea, M., Dumitriu, S., Gallinger, B., Hartley, T., Trang, H., … Brudno, M. (2015a). PhenomeCentral: A portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. Human Mutation , 36 (10), 931–940. https://doi.org/10.1002/humu.22851
Buske, O. J., Schiettecatte, F., Hutton, B., Dumitriu, S., Misyura, A., Huang, L., … Brudno, M. (2015b). The Matchmaker Exchange API: Automating patient matching Through the exchange of structured phenotypic and genotypic profiles. Human Mutation , 36 (10), 922–927. https://doi.org/10.1002/humu.22850
Chelban, V., Wilson, M. P., Warman Chardon, J., Vandrovcova, J., Zanetti, M. N., Zamba‐Papanicolaou, E., … Houlden, H. (2019). PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation. Annals of Neurology , 86 (2), 225–240. https://doi.org/10.1002/ana.25524
Chong, J. X., Yu, J.-H., Lorentzen, P., Park, K. M., Jamal, S. M., Tabor, H. K., … Bamshad, M. J. (2016). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.Genetics in Medicine , 18 (8), 788–795. https://doi.org/10.1038/gim.2015.161
Darquy, S., Moutel, G., Lapointe, A.-S., D’Audiffret, D., Champagnat, J., Guerroui, S., … Duchange, N. (2016). Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.European Journal of Human Genetics , 24 (3), 338-343. https://doi.org/10.1038/ejhg.2015.115
den Hoed, J., de Boer, E., Voisin, N., Dingemans, A. J. M., Guex, N., Wiel, L., … Vissers, L. E. L. M. (2021). Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. American Journal of Human Genetics , 108 (2), 346–356. https://doi.org/10.1016/j.ajhg.2021.01.007
Faden, M., AlZahrani, F., Mendoza-Londono, R., Dupuis, L., Hartley, T., Kannu, P., … Alkuraya, F. S. (2015). Identification of a recognizable progressive skeletal dysplasia caused by RSPRY1 mutations.American Journal of Human Genetics , 97 (4), 608–615. https://doi.org/10.1016/j.ajhg.2015.08.007
Girdea, M., Dumitriu, S., Fiume, M., Bowdin, S., Boycott, K. M., Chénier, S., … Brudno, M. (2013). PhenoTips: Patient phenotyping software for clinical and research use. Human Mutation ,34 (8), 1057–1065. https://doi.org/10.1002/humu.22347
Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., … Raymond, F. L. (2018). De novo truncating mutations in WASF1 cause intellectual disability with seizures. American Journal of Human Genetics , 103 (1), 144–153. https://doi.org/10.1016/j.ajhg.2018.06.001
Johnstone, D. L., Nguyen, T.-T.-M., Murakami, Y., Kernohan, K. D., Tétreault, M., Goldsmith, C., … Campeau, P. M. (2017). Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Human Molecular Genetics ,26 (9), 1706–1715. https://doi.org/10.1093/hmg/ddx077
Kernohan, K. D., Dyment, D. A., Pupavac, M., Cramer, Z., McBride, A., Bernard, G., … Thiffault, I. (2017). Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.Human Mutation , 38 (5), 511–516. https://doi.org/10.1002/humu.23196
Köhler, S., Gargano, M., Matentzoglu, N., Carmody, L. C., Lewis-Smith, D., Vasilevsky, N. A., … Robinson, P. N. (2021). The Human Phenotype Ontology in 2021. Nucleic Acids Research ,49 (D1), D1207. https://doi.org/10.1093/nar/gkaa1043
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero-Rivera, F., … Nelson, S. F. (2014). Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.Journal of American Medical Association , 312 (18), 1880-1887. https://doi.org/10.1001/jama.2014.14604
Lee, Y.-R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N. A., Pardo, M., … Schwartz, C. E. (2020). Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature Communications , 11 (1), 3698. https://doi.org/10.1038/s41467-020-17452-6
Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., … Kreienkamp, H.-J. (2020). Germline AGO2 mutations impair RNA interference and human neurological development. Nature Communications , 11 (1), 5797. https://doi.org/10.1038/s41467-020-19572-5
Martinelli, S., Krumbach, O. H. F., Pantaleoni, F., Coppola, S., Amin, E., Pannone, L., … Mirzaa, G. M. (2018). Functional dysregulation of CDC42 causes diverse developmental phenotypes. American Journal of Human Genetics , 102 (2), 309-320. https://doi.org/10.1016/j.ajhg.2017.12.015
Matchmaker Exchange Statistic and Publications. (2021). Retrieved September 30, 2021, from https://www.matchmakerexchange.org/statistics.html
Osmond, M., Hartley, T., Dyment, D., Kernohan, K. D., Brudno, M., Buske, O. J., … Boycott, K. M. (in press). Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: the two year experience of Care4Rare Canada. Genetics in Medicine .
Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., … Kuijpers, T. W. (2017). Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. American Journal of Human Genetics , 100 (2), 281-296. https://doi.org/10.1016/j.ajhg.2017.01.013
Pesquita, C., Faria, D., Bastos, H., Ferreira, A. E., Falcão, A. O., & Couto, F. M. (2008). Metrics for GO based protein semantic similarity: a systematic evaluation. BMC Bioinformatics , 9 (S5), S4. https://doi.org/10.1186/1471-2105-9-S5-S4
Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., … Rehm, H. L. (2015). The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.Human Mutation , 36 (10), 915–921. https://doi.org/10.1002/humu.22858
Rahimzadeh, V., Dyke, S. O. M., & Knoppers, B. M. (2016). An international framework for data sharing: Moving forward with the Global Alliance for Genomics and Health. Biopreservation and Biobanking ,14 (3), 256–259. https://doi.org/10.1089/bio.2016.0005
Rehm, H. L. (2017). A new era in the interpretation of human genomic variation. Genetics in Medicine 2017 19:10 , 19 (10), 1092–1095. https://doi.org/10.1038/gim.2017.90
Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., … Houlden, H. (2019). AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature Communications , 10 (1), 3094. https://doi.org/10.1038/s41467-019-10910-w
Simons, C., Dyment, D., Bent, S. J., Crawford, J., D’Hooghe, M., Kohlschütter, A., … Wolf, N. I. (2017). A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.Brain , 140 (12), 3105–3111. https://doi.org/10.1093/brain/awx314
Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., … Deardorff, M. A. (2017). WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features. American Journal of Human Genetics , 101 (1), 139-148. https://doi.org/10.1016/j.ajhg.2017.06.002
Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., … Robinson, P. N. (2015). Next-generation diagnostics and disease-gene discovery with the Exomiser. Nature Protocols , 10 (12), 2004–2015. https://doi.org/10.1038/nprot.2015.124
Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., … Yoon, G. (2016). Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability. American Journal of Human Genetics ,98 (1), 202-209. https://doi.org/10.1016/j.ajhg.2015.11.004
Thompson, R., Johnston, L., Taruscio, D., Monaco, L., Béroud, C., Gut, I. G., … Lochmüller, H. (2014). RD-Connect: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Journal of General Internal Medicine , 29 (S3), 780–787. https://doi.org/10.1007/s11606-014-2908-8
Vavassori, S., Chou, J., Faletti, L. E., Haunerdinger, V., Opitz, L., Joset, P., … Pachlopnik Schmid, J. (2021). Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. Journal of Allergy and Clinical Immunology ,148 (2), 381–393. https://doi.org/10.1016/j.jaci.2021.03.045
Wright, C. F., McRae, J. F., Clayton, S., Gallone, G., Aitken, S., FitzGerald, T. W., … Firth, H. V. (2018). Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.Genetics in Medicine 2018 20:10 , 20 (10), 1216–1223. https://doi.org/10.1038/gim.2017.246
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., … Eng, C. M. (2013). Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England Journal of Medicine , 369 (16), 1502. https://doi.org/10.1056/nejmoa1306555