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title: Matchmaker Exchange Statistics and Publications
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      <h1 class='text-white'>Matchmaker Exchange Statistics and Publications</h1>
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      <h3 class="padding-top-lg">Matchmaker Exchange Statistics (last updated January 2026)</h3>
      
<table class="table table-striped table-bordered table-responsive">
  <thead>
    <tr>
      <td class="info text-sm text-tight">MME Node</td>
      <td class="info text-sm text-tight">Patients/Cases Total</td>
      <td class="info text-sm text-tight">Patients/Cases in MME</td>
      <td class="info text-sm text-tight">Unique Genes</td>
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  </thead>
   <tr>
    <td>BCH <i>seqr</i> (USA)</td>
    <td>18,732</td>
    <td>27</td>
    <td>32</td>
  </tr>
   <tr>
    <td>Broad <i>seqr</i> (USA)</td>
    <td>7,929</td>
    <td>1,705</td>
    <td>1,693</td>
  </tr>
  <tr>
    <td>DECIPHER (UK)</td>
    <td>100,000</td>
    <td>51,932</td>
    <td>9,956</td>
  </tr>
  <tr>
    <td>GeneMatcher (USA)</td>
    <td>109,250</td>
    <td>106,771</td>
    <td>15,834</td>
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    <td>IRUD (Japan)</td>
    <td>3,578</td>
    <td>62</td>
    <td>55</td>
  </tr>
  <tr>
    <td>MyGene2 (USA)</td>
    <td>4,492</td>
    <td>2,141</td>
    <td>1,721</td>
  </tr>
  <tr>
    <td>PatientMatcher (Sweden)</td>
    <td>28,917</td>
    <td>46</td>
    <td>55</td>
  </tr>
  <tr>
    <td>PhenomeCentral (Canada)</td>
    <td>13,495</td>
    <td>12,212</td>
    <td>3,604</td>
  </tr>
    <tr>
    <td>RD-Connect GPAP (Europe)</td>
    <td>13,929</td>
    <td>8,726</td>
    <td>793</td>
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</table>
      
       <h3 class="padding-top-lg">Matchmaker Exchange Human Mutation Special Issues</h3>
      
         <blockquote class="text-sm">
       <a href="https://onlinelibrary.wiley.com/toc/10981004/2022/43/6">Human Mutation Special Issue: Matchmaker Exchange: Seven years of discovery and collaboration</a>, Volume 43, Issue 6, Pages: i, 655-811, June 2022, Issue Edited by: Kym Boycott, Ada Hamosh, Heidi Rehm
               </blockquote>
      
      <blockquote class="text-sm">
       <a href="https://onlinelibrary.wiley.com/toc/10981004/2015/36/10">Human Mutation Special Issue: The Matchmaker Exchange</a>, Volume 36, Issue 10, October 2015, Pages: i-iii, 915-1019, Issue Edited by: 
Kym Boycott, Ada Hamosh, Heidi Rehm 
      </blockquote>
      
      <h3 class="padding-top-lg">Matchmaker Exchange General Publications</h3>
      
       <blockquote class="text-sm">
      Boycott, K. M., Azzariti, D. R., Hamosh, A., & Rehm, H. L., 2022. <a href="https://onlinelibrary.wiley.com/doi/10.1002/humu.24373">Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking</a>. <em>Human Mutation</em>, 43. doi:<a href="https://doi.org/10.1002/humu.24373">10.1002/humu.24373</a>

   
      </blockquote>
      
         <blockquote class="text-sm">
      Azzariti, D.R., Hamosh, A., 2020. <a href="http://www.annualreviews.org/eprint/ANWAZQ2IQAPRSDNZCVRP/full/10.1146/annurev-genom-083118-014915">Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange</a>. <em>Annual Review of Genomics and Human Genetics</em>, 21. doi:<a href="https://doi.org/10.1146/annurev-genom-083118-014915">10.1146/annurev-genom-083118-014915</a>

      [<a href="assets/files/Azzaritietal.bib">BibTex</a>]
      </blockquote>

        <blockquote class="text-sm">
      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. <a href="https://currentprotocols.onlinelibrary.wiley.com/doi/abs/10.1002/cphg.50">The Matchmaker Exchange</a>. <em>Current Protocols in Human Genetics</em>, 95: 9.31.1-9.31.15. doi:<a href="https://doi.org/10.1002/cphg.50">10.1002/cphg.50</a>

      [<a href="assets/files/Sobreiraetal.bib">BibTex</a>]
      </blockquote>
      
      
      <blockquote class="text-sm">
      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. <a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23278">“Matching” consent to purpose: The example of the Matchmaker Exchange</a>. <em>Human Mutation</em>, 38: 1281-1285. doi:<a href="https://doi.org/10.1002/humu.23278">10.1002/humu.23278</a>

      [<a href="assets/files/Dykeetal.bib">BibTex</a>]
      </blockquote>
      
        <blockquote class="text-sm">
      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. <a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22850">The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles</a>. <em>Human Mutation</em>, 36: 922-927. doi:<a href="https://doi.org/10.1002/humu.22850">10.1002/humu.22850</a>

      [<a href="assets/files/Buskeetal.bib">BibTex</a>]
      </blockquote>
    
       <blockquote class="text-sm">
      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. <a href="http://onlinelibrary.wiley.com/doi/10.1002/humu.22858/full">The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery</a>. <em>Human Mutation</em>, 36: 915–921. doi:<a href="https://doi.org/10.1002/humu.22858">10.1002/humu.22858</a>

      [<a href="assets/files/philippakis2015matchmaker.bib">BibTex</a>]
      </blockquote>
      
    
      
       <h3 class="padding-top-lg">GeneMatcher Publications</h3>
      <p>
       GeneMatcher maintains a publication list, collecting all publication citing GeneMatcher including those involving Matchmaker Exchange. Visit the GeneMatcher Publication list <a href="https://genematcher.org/publications">here</a>.
      </p>
      
      
      <h3 class="padding-top-lg">Matchmaker Exchange Gene Discoveries</h3>
      
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              Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE...Agrawal PB. 2021. <a href="https://pubmed.ncbi.nlm.nih.gov/34186028/">Unique variants in <strong>CLCN3</strong>, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.</a>. <em>Am J Hum Genet.</em>, 108(8):1450-1465. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2021.06.003">10.1016/j.ajhg.2021.06.003</a> 

      </li>  
        <li>
    
              Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA,...Shashi V. 2021. <a href="https://pubmed.ncbi.nlm.nih.gov/34163037/">Phenotypic expansion of <strong>CACNA1C</strong>-associated disorders to include isolated neurological manifestations</a>. <em>Genet Med.</em>, 23(10):1922-1932. doi:<a href="http://dx.doi.org/10.1038/s41436-021-01232-8">10.1038/s41436-021-01232-8</a> 

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        <li>
    
              Seese SE, Reis LM, Deml B, Griffith C, Reich A, Jamieson RV, Semina EV. 2021. <a href="https://pubmed.ncbi.nlm.nih.gov/33973683/">Identification of missense <strong>MAB21L1</strong> variants in microphthalmia and aniridia</a>. <em>Hum Mutat.</em>, 42(7):877-890. doi:<a href="http://dx.doi.org/10.1002/humu.24218">10.1002/humu.24218</a> 

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        <li>
    
             Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM,...Rodan LH.  2021. <a href="https://pubmed.ncbi.nlm.nih.gov/34003604/">De novo variants in <strong>TCF7L2</strong> are associated with a syndromic neurodevelopmental disorder</a>. <em>Am J Genet A.</em>, 185(8):2384-2390. doi:<a href="http://dx.doi.org/10.1002/ajmg.a.62254">10.1002/ajmg.a.62254</a> 

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        <li>
    
              Coppens S, Barnard AM, Puusepp S, Pajasalu S, Õunap K, Vargas-Franco D,...Kang PB. 2021. <a href="https://www.ncbi.nlm.nih.gov/pubmed/33861953">A form of muscular dystrophy associated with pathogenic variants in <strong>JAG2</strong></a>. <em>Am J Hum Genet</em>, 108(5):840-856. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2021.03.020">10.1016/j.ajhg.2021.03.020</a> 

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        <li>
    
              Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T,...Brunetti‐Pierri N. 2021. <a href="https://pubmed.ncbi.nlm.nih.gov/33942428/">Bi-allelic <strong>KARS1</strong> pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease</a>. <em>Hum Mutat</em>, 42(6):745-761. doi:<a href="http://dx.doi.org/10.1002/humu.24210"> 10.1002/humu.24210</a> 

      </li> 
         <li>
    
              Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A,...Ravenscroft G. 2021. <a href="https://www.ncbi.nlm.nih.gov/pubmed/33565183">Biallelic hypomorphic variants in <strong>ALDH1A2</strong> cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects</a>. <em>Hum Mutat</em>, 42(5):506-519. doi:<a href="http://dx.doi.org/10.1002/humu.24179">10.1002/humu.24179</a> 

      </li> 
         <li>
    
              Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S,...Banka S. 2021. <a href="https://www.ncbi.nlm.nih.gov/pubmed/33547280">Impaired <strong>eIF5A</strong> function causes a Mendelian disorder that is partially rescued in model systems by spermidine</a>. <em>Nat Commun</em>, 12(1):833. doi:<a href="10.1038/s41467-021-21053-2">10.1038/s41467-021-21053-2</a> 

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         <li>
    
              Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS,...Walsh CA. 2021. <a href="https://www.ncbi.nlm.nih.gov/pubmed/33531666"> recurrent, homozygous <strong>EMC10</strong> frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features</a>. <em>Genet Med</em>, 23:1158–1162. doi:<a href="http://dx.doi.org/10.1038/s41436-021-01097-x">10.1038/s41436-021-01097-x</a> 

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          <li>
         Sterling N, Duncan AR, Park R, Koolen DA, Shi J, Cho SH,...Agrawal PB. 2020. <a href="https://pubmed.ncbi.nlm.nih.gov/33073849/"> De novo variants in <strong>MPP5</strong> cause global developmental delay and behavioral changes</a>. <em>Hum Mol Genet</em>, 29(20):3388-3401. doi:<a href="http://dx.doi.org/10.1093/hmg/ddaa224">10.1093/hmg/ddaa224</a> 
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              Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM,...Bamshad MJ. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32707087"> Mutations in <strong>MYLPF</strong> Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis</a>. <em>Am J Hum Genet</em>, 107(2):293-310. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2020.06.014">10.1016/j.ajhg.2020.06.014</a> 

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              Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC,...Christodoulou J. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32639540">Mutations in the Exocyst Component <strong>EXOC2</strong> Cause Severe Defects in Human Brain Development</a>. <em>J Exp Med</em>, 217(10). doi:<a href="http://dx.doi.org/10.1084/jem.20192040">10.1084/jem.20192040</a> 

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        <li>
    Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M,...Corbett AH. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32504085">Biallelic Variants in the RNA Exosome Gene <strong>EXOSC5</strong> Are Associated With Developmental Delays, Short Stature, Cerebellar Hypoplasia and Motor Weakness</a>. <em>Hum Mol Genet</em>, 29(13):2218-2239. doi:<a href="http://dx.doi.org/10.1093/hmg/ddaa108">10.1093/hmg/ddaa108</a>

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    Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G,...Schaffer A. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32439809">Bi-allelic <strong>TTC5</strong> Variants Cause Delayed Developmental Milestones and Intellectual Disability</a>. <em>J Med Genet</em>, 58(4):237-246. doi:<a href="http://dx.doi.org/10.1136/jmedgenet-2020-106849">10.1136/jmedgenet-2020-106849</a>

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    Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS,...Campeau PM. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32424177">Further Delineation of the Clinical Spectrum of <strong>KAT6B</strong> Disorders and Allelic Series of Pathogenic Variants</a>. <em>Genet Med</em>, 22(8):1338-1347. doi:<a href="http://dx.doi.org/10.1038/s41436-020-0811-8">10.1038/s41436-020-0811-8</a>

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    Kodani A, Kenny C, Lai A, Gonzalez DM, Stronge E, Sejourne GM,...Walsh CA. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32097629">Posterior Neocortex-Specific Regulation of Neuronal Migration by <strong>CEP85L</strong> Identifies Maternal Centriole-Dependent Activation of CDK5</a>. <em>Neuron</em>, 106(2): 246-255.e6. doi:<a href="http://dx.doi.org/10.1016/j.neuron.2020.01.030">10.1016/j.neuron.2020.01.030</a>

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             <li>
     Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I,...O'Connell MA. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32220291">Bi-allelic <strong>ADARB1</strong> Variants Associated With Microcephaly, Intellectual Disability, and Seizures</a>. <em>Am J Hum Genet</em>, 106(4):467-483. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2020.02.015">10.1016/j.ajhg.2020.02.015</a>

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         <li>
     Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M,...White SM. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/32197075">Bi-allelic LoF <strong>NRROS</strong> Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition With Intracranial Calcification</a>. <em>Am J Hum Genet</em>, 106(4): 559-569. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2020.02.014">10.1016/j.ajhg.2020.02.014</a>

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         <li>
     Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H...Bamshad MJ. 2020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31723249">De novo and inherited variants in <strong>ZNF292</strong> underlie a neurodevelopmental disorder with features of autism spectrum disorder</a>. <em>Genet Med</em>, 22(3): 538-546. doi:<a href="http://dx.doi.org/10.1038/s41436-019-0693-9">10.1038/s41436-019-0693-9</a>

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         <li>
     Lee S, Chen D, Zaki M, Maroofian R, Houlden H, Di Donato D, ...Gleeson JG. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31585108">Bi-allelic Loss of Human <strong>APC2</strong>, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay</a>. <em>Am J Hum Genet</em>, 105(4): 844-853. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2019.08.013">10.1016/j.ajhg.2019.08.013</a>

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     Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K,...Ehmke N. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31353024">Haploinsufficiency of the Notch Ligand <strong>DLL1</strong> Causes Variable Neurodevelopmental Disorders</a>. <em>Am J Hum Genet</em>, 105(3): 631-639. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2019.07.002">10.1016/j.ajhg.2019.07.002</a>

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          <li>
     Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A,...Wang QK. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31152168">De novo loss-of-function <strong>KCNMA1</strong> variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes</a>. <em>Hum Mol Genet</em>, 28(17): 2937-2951. doi:<a href="http://dx.doi.org/10.1093/hmg/ddz117">10.1093/hmg/ddz117</a>

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        <li>
     Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L,...Lebel RR. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31397880"><strong>MAGEL2</strong>-related disorders: A study and case series</a>. <em>Clin Genet</em>, 96(6): 493-505. doi:<a href="http://dx.doi.org/10.1111/cge.13620">10.1111/cge.13620</a>

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     Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA,...Fisher SE. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31303265">De Novo Variants Disturbing the Transactivation Capacity of <strong>POU3F3</strong> Cause a Characteristic Neurodevelopmental Disorder.</a>. <em>Am J Hum Genet</em>, 105(2):403-412. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2019.06.007">10.1016/j.ajhg.2019.06.007</a>

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     Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y,...Krawitz PM. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31353022">Mutations in <strong>PIGU</strong> Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies</a>. <em>Am J Hum Genet</em>, 105(2):395-402. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2019.06.009">10.1016/j.ajhg.2019.06.009</a>

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        <li>
     Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH,...Kalscheuer VM. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31206972">Deleterious de novo variants of X-linked <strong>ZC4H2</strong> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita</a>. <em>Hum Mutat</em>, 40(12): 2270-2285. doi:<a href="http://dx.doi.org/10.1002/humu.23841">10.1002/humu.23841</a>

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           <li>
      O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V,...Rodan LH. 2019. <a href="https://www.ncbi.nlm.nih.gov/pubmed/31079897">Heterozygous Variants in <strong>KMT2E</strong> Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy</a>. <em>Am J Hum Genet</em>, 104(6): 1210-1222. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2019.03.021">10.1016/j.ajhg.2019.03.021</a>

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      Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI,...Gleeson JG. 2019. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372641/">Biallelic mutations in valyl-tRNA synthetase gene <strong>VARS</strong> are associated with a progressive neurodevelopmental epileptic encephalopathy</a>. <em>Nat Commun</em>, 10(1): 707. doi:<a href="http://dx.doi.org/10.1038/s41467-018-07067-3">10.1038/s41467-018-07067-3</a>

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      Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E,...Bahram S. 2019. <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(18)30458-0"><strong>ZMIZ1</strong> Variants Cause a Syndromic Neurodevelopmental Disorder</a>. <em>Am J Hum Genet</em>, 104(2): 319-330. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2018.12.007">10.1016/j.ajhg.2018.12.007</a>

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      Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS,...Hakonarson H. 2019. <a href="https://pubmed.ncbi.nlm.nih.gov/30576410/">NAD(P)HX dehydratase (<strong>NAXD</strong>) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses</a>. <em>Brain</em>, 142(1):50-58. doi:<a href="http://dx.doi.org/10.1093/brain/awy310">10.1093/brain/awy310
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      Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME,...Mancini GM. 2018. <a href="https://www.ncbi.nlm.nih.gov/pubmed/30471716"><strong>MACF1</strong> Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance</a>. <em>Am J Hum Genet</em>, 103(6):1009-1021. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2018.10.019">10.1016/j.ajhg.2018.10.019</a>

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      Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y,...Akhtar A. 2018. <a href="https://www.ncbi.nlm.nih.gov/pubmed/30224647">De novo mutations in <strong>MSL3</strong> cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation</a>. <em>Nat Genet</em>, 50(10): 1442-1451. doi:<a href="http://dx.doi.org/10.1038/s41588-018-0220-y">10.1038/s41588-018-0220-y</a>

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      Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA,...Raymond FL. 2018. <a href="https://www.ncbi.nlm.nih.gov/pubmed/29961568">De Novo Truncating Mutations in <strong>WASF1</strong> Cause Intellectual Disability with Seizures</a>. <em>Am J Hum Genet</em>, 103(1): 144-153. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2018.06.001">10.1016/j.ajhg.2018.06.001</a>

      </li>
      
       <li>
      Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K,...Küry S. 2018. <a href="https://www.ncbi.nlm.nih.gov/pubmed/29656859">Dual Molecular Effects of Dominant <strong>RORA</strong> Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia</a>. <em>Am J Hum Genet</em>, 102(5): 744-759. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2018.02.021">10.1016/j.ajhg.2018.02.021</a>

      </li>
      
      
      <li>
      Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L,...Mirzaa GM. 2018. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985417/">Functional Dysregulation of <strong>CDC42</strong> Causes Diverse Developmental Phenotypes</a>. <em>Am J Hum Genet</em>, 102(2): 309-320. doi:<a href="http://dx.doi.org/10.1016/j.ajhg.2017.12.015">10.1016/j.ajhg.2017.12.015</a>

      </li>
        
        <li>
      Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S,...Bodamer OA. 2017. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724856/">A defect in the inner kinetochore protein <strong>CENPT</strong> causes a new syndrome of severe growth failure</a>. <em>PLoS One</em>, 12(12): e0189324. doi:<a href="https://doi.org/10.1371/journal.pone.0189324">10.1371/journal.pone.0189324</a>

      </li>
         <li>
      Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G,...Thevenon J. 2017. <a href="https://www.ncbi.nlm.nih.gov/pubmed/29074562/">Expanding the clinical spectrum of recessive truncating mutations of <strong>KLHL7</strong> to a Bohring-Opitz-like phenotype</a>. <em>J Med Genet</em>, 54(12): 830-835. doi:<a href="https://doi.org/10.1136/jmedgenet-2017-104748">10.1136/jmedgenet-2017-104748</a>

      </li>
           <li>
      Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R,...Gecz J. 2017. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812890/">A Recurrent De Novo Nonsense Variant in <strong>ZSWIM6</strong> Results in Severe Intellectual Disability without Frontonasal or Limb Malformations</a>. <em>Am J Hum Genet</em>, 101(6): 995-1005. doi:<a href="https://doi.org/10.1016/j.ajhg.2017.10.009">10.1016/j.ajhg.2017.10.009</a>

      </li>
         <li>
      Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S,...Balasubramanian M. 2017. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555908/">De Novo Mutations in <strong>HNRNPU</strong> Result in a Neurodevelopmental Syndrome</a>. <em>Am J Med Genet A</em>, 173(11): 3003-3012. doi:<a href="https://doi.org/10.1002/ajmg.a.38492">10.1002/ajmg.a.38492</a>

      </li>
       
         </li>
         <li>
     Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PY,...Deardorff MA. 2017. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501873//"><strong>WDR26</strong> Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features</a>. <em>Am J Hum Genet</em>, 101(1): 139-148. doi:<a href="https://doi.org/10.1016/j.ajhg.2017.06.002">10.1016/j.ajhg.2017.06.002</a>

      </li>
       
          <li>
     Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G,...Thiffault I. 2017. <a href="https://www.ncbi.nlm.nih.gov/pubmed/28185376">Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<strong>TRIT1</strong>) gene</a>. <em>Hum Mutat</em>, 38(5):511-516. doi:<a href="https://doi.org/10.1002/humu.23196">10.1002/humu.23196</a>

      </li>
      <li>
     Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S,...Kuijpers TW. 2017. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/">Mutations in <strong>EXTL3</strong> Cause Neuro-immuno-skeletal Dysplasia Syndrome</a>. <em>Am J Hum Genet</em>, 100(2): 281-296. doi:<a href="https://doi.org/10.1016/j.ajhg.2017.01.013">10.1016/j.ajhg.2017.01.013</a>

      </li>
         <li>
     Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N,...Thevenon J. 2016. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104/">Autosomal-Recessive Mutations in <strong>AP3B2</strong>, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy</a>. <em>Am J Hum Genet</em>, 99(6): 1368–1376. doi:<a href="https://doi.org/10.1016/j.ajhg.2016.10.009">10.1016/j.ajhg.2016.10.009</a>

      </li>
        <li>
    Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K,...Yoon G. 2016. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716670/">Biallelic Mutations in <strong>UNC80</strong> Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability</a>. <em>Am J Hum Genet</em>, 98(1): 202-9. doi:<a href="https://doi.org/10.1016/j.ajhg.2015.11.004">10.1016/j.ajhg.2015.11.004</a>

      </li>
      </ol>
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