Matchmaker Exchange Statistics and Publications

Matchmaker Exchange Statistics (last updated March 2019)

MME Node Patients/Cases Total Patients/Cases in MME Unique Genes
AGHA Patient Archive (Australia) 121 18 26
DECIPHER (UK) 70,000 29,169 6,647
GeneMatcher (USA) 30,185 30,185 10,311
IRUD (Japan) 3,000 60 100
matchbox (USA) 17,120 460 497
MyGene2 (USA) 2,083 906 1,290
PhenomeCentral (Canada) 7,368 4,376 1,732

Matchmaker Exchange General Publications

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SOM, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. 2015. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36: 915–921. doi:10.1002/humu.22858 [BibTex]
Buske, O.J., Schiettecatte, F., Hutton, B., Dumitriu, S., Misyura, A., Huang, L., Hartley, T., Girdea, M., Sobreira, N., Mungall, C. and Brudno, M., 2015. The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles. Human Mutation, 36: 922-927. doi:10.1002/humu.22850 [BibTex]
Dyke, S.O., Knoppers, B.M., Hamosh, A., Firth, H.V., Hurles, M., Brudno, M., Boycott, K.M., Philippakis, A.A. and Rehm, H.L., 2017. “Matching” consent to purpose: The example of the Matchmaker Exchange. Human Mutation, 38: 1281-1285. doi:10.1002/humu.23278 [BibTex]
Sobreira, N.L., Arachchi, H., Buske, O.J., Chong, J.X., Hutton, B., Foreman, J., Schiettecatte, F., Groza, T., Jacobsen, J.O., Haendel, M.A. and Boycott, K.M., 2017. The Matchmaker Exchange. Current Protocols in Human Genetics, 95: 9.31.1-9.31.15. doi:10.1002/cphg.50 [BibTex]

Matchmaker Exchange Gene Discoveries

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. 2019. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet, 104(2): 319-330. doi:10.1016/j.ajhg.2018.12.007
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GM. 2018. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet, 103(6): 1009-1021. doi:10.1016/j.ajhg.2018.10.019
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ. 2018. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet, 103(5): 752-768. doi:10.1016/j.ajhg.2018.10.006
Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V; DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A. 2018. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nat Genet, 50(10): 1442-1451. doi:10.1038/s41588-018-0220-y
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. 2018. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.. Am J Hum Genet, 102(5): 744-759. doi:10.1016/j.ajhg.2018.02.021
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL. 2018. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. Am J Hum Genet, 103(1): 144-153. doi:10.1016/j.ajhg.2018.06.001
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. 2018. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet, 102(2): 309-320. doi:10.1016/j.ajhg.2017.12.015