Matchmaker Exchange Statistics and Publications

Matchmaker Exchange Statistics (last updated May 2022)

MME Node Patients/Cases Total Patients/Cases in MME Unique Genes
DECIPHER (UK) 80,000 42,847 9,126
GeneMatcher (USA) 66,058 65,351 13,691
IRUD (Japan) 3,578 62 55
MyGene2 (USA) 4,492 1,635 1,343
PatientMatcher (Sweden) 10,060 18 25
PhenomeCentral (Canada) 12,775 9,147 3,092
RD-Connect GPAP (Europe) 13,929 5,847 902
seqr (USA) 7,929 1,237 1,278

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., Boycott, K.M., Hamosh, A., Rehm, H.L. on behalf of the Matchmaker Exchange Consortium, 2017. The Matchmaker Exchange. Current Protocols in Human Genetics, 95: 9.31.1-9.31.15. doi:10.1002/cphg.50 [BibTex]
Azzariti, D.R., Hamosh, A., 2020. Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange. Annual Review of Genomics and Human Genetics, 21. doi:10.1146/annurev-genom-083118-014915 [BibTex]

GeneMatcher Publications

GeneMatcher maintains a publication list, collecting all publication citing GeneMatcher including those involving Matchmaker Exchange. Visit the GeneMatcher Publication list here.

Matchmaker Exchange Gene Discoveries

  1. Seese SE, Reis LM, Deml B, Griffith C, Reich A, Jamieson RV, Semina EV. 2021. Identification of missense MAB21L1 variants in microphthalmia and aniridia. Hum Mutat., 42(7):877-890. doi:10.1002/humu.24218
  2. Coppens S, Barnard AM, Puusepp S, Pajasalu S, Õunap K, Vargas-Franco D,...Kang PB. 2021. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet, 108(5):840-856. doi:10.1016/j.ajhg.2021.03.020
  3. Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T,...Brunetti‐Pierri N. 2021. Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Hum Mutat, 42(6):745-761. doi: 10.1002/humu.24210
  4. Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A,...Ravenscroft G. 2021. Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. Hum Mutat, 42(5):506-519. doi:10.1002/humu.24179
  5. Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S,...Banka S. 2021. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nat Commun, 12(1):833. doi:10.1038/s41467-021-21053-2
  6. Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS,...Walsh CA. 2021. recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med, 23:1158–1162. doi:10.1038/s41436-021-01097-x
  7. Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM,...Bamshad MJ. 2020. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet, 107(2):293-310. doi:10.1016/j.ajhg.2020.06.014
  8. Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC,...Christodoulou J. 2020. Mutations in the Exocyst Component EXOC2 Cause Severe Defects in Human Brain Development. J Exp Med, 217(10). doi:10.1084/jem.20192040
  9. Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M,...Corbett AH. 2020. Biallelic Variants in the RNA Exosome Gene EXOSC5 Are Associated With Developmental Delays, Short Stature, Cerebellar Hypoplasia and Motor Weakness. Hum Mol Genet, 29(13):2218-2239. doi:10.1093/hmg/ddaa108
  10. Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G,...Schaffer A. 2020. Bi-allelic TTC5 Variants Cause Delayed Developmental Milestones and Intellectual Disability. J Med Genet, 58(4):237-246. doi:10.1136/jmedgenet-2020-106849
  11. Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS,...Campeau PM. 2020. Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants. Genet Med, 22(8):1338-1347. doi:10.1038/s41436-020-0811-8
  12. Kodani A, Kenny C, Lai A, Gonzalez DM, Stronge E, Sejourne GM,...Walsh CA. 2020. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron, 106(2): 246-255.e6. doi:10.1016/j.neuron.2020.01.030
  13. Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I,...O'Connell MA. 2020. Bi-allelic ADARB1 Variants Associated With Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet, 106(4):467-483. doi:10.1016/j.ajhg.2020.02.015
  14. Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M,...White SM. 2020. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition With Intracranial Calcification. Am J Hum Genet, 106(4): 559-569. doi:10.1016/j.ajhg.2020.02.014
  15. Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H...Bamshad MJ. 2020. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med, 22(3): 538-546. doi:10.1038/s41436-019-0693-9
  16. Lee S, Chen D, Zaki M, Maroofian R, Houlden H, Di Donato D, ...Gleeson JG. 2019. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet, 105(4): 844-853. doi:10.1016/j.ajhg.2019.08.013
  17. Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K,...Ehmke N. 2019. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet, 105(3): 631-639. doi:10.1016/j.ajhg.2019.07.002
  18. Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A,...Wang QK. 2019. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Hum Mol Genet, 28(17): 2937-2951. doi:10.1093/hmg/ddz117
  19. Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L,...Lebel RR. 2019. MAGEL2-related disorders: A study and case series. Clin Genet, 96(6): 493-505. doi:10.1111/cge.13620
  20. Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA,...Fisher SE. 2019. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.. Am J Hum Genet, 105(2):403-412. doi:10.1016/j.ajhg.2019.06.007
  21. Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y,...Krawitz PM. 2019. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. Am J Hum Genet, 105(2):395-402. doi:10.1016/j.ajhg.2019.06.009
  22. Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH,...Kalscheuer VM. 2019. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Hum Mutat, 40(12): 2270-2285. doi:10.1002/humu.23841
  23. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V,...Rodan LH. 2019. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet, 104(6): 1210-1222. doi:10.1016/j.ajhg.2019.03.021
  24. Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI,...Gleeson JG. 2019. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun, 10(1): 707. doi:10.1038/s41467-018-07067-3
  25. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E,...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
  26. Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS,...Hakonarson H. 2019. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain, 142(1):50-58. doi:10.1093/brain/awy310
  27. Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME,...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
  28. Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y,...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
  29. Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA,...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
  30. Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K,...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
  31. Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L,...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
  32. Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S,...Bodamer OA. 2017. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One, 12(12): e0189324. doi:10.1371/journal.pone.0189324
  33. Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G,...Thevenon J. 2017. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. J Med Genet, 54(12): 830-835. doi:10.1136/jmedgenet-2017-104748
  34. Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R,...Gecz J. 2017. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet, 101(6): 995-1005. doi:10.1016/j.ajhg.2017.10.009
  35. Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S,...Balasubramanian M. 2017. De Novo Mutations in HNRNPU Result in a Neurodevelopmental Syndrome. Am J Med Genet A, 173(11): 3003-3012. doi:10.1002/ajmg.a.38492
  36. Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PY,...Deardorff MA. 2017. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet, 101(1): 139-148. doi:10.1016/j.ajhg.2017.06.002
  37. Kernohan KD, Dyment DA, 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. Hum Mutat, 38(5):511-516. doi:10.1002/humu.23196
  38. Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S,...Kuijpers TW. 2017. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. Am J Hum Genet, 100(2): 281-296. doi:10.1016/j.ajhg.2017.01.013
  39. Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N,...Thevenon J. 2016. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Am J Hum Genet, 99(6): 1368–1376. doi:10.1016/j.ajhg.2016.10.009
  40. Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K,...Yoon G. 2016. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet, 98(1): 202-9. doi:10.1016/j.ajhg.2015.11.004