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@ARTICLE{BisBrewer:154375,
      author       = {Bis-Brewer, Dana M and Gan-Or, Ziv and Sleiman, Patrick and
                      Hakonarson, Hakon and Fazal, Sarah and Courel, Steve and
                      Cintra, Vivian and Tao, Feifei and Estiar, Mehrdad A and
                      Tarnopolsky, Mark and Boycott, Kym M and Yoon, Grace and
                      Suchowersky, Oksana and Dupré, Nicolas and Cheng, Andrew
                      and Lloyd, Thomas E and Rouleau, Guy and Schüle, Rebecca
                      and Züchner, Stephan and Rodriguez, Aixa and Bacha, Alexa
                      and Kosikowski, Ashley and Wood, Beth and McCray, Brett and
                      Blume, Brianna and Siskind, Carly and Sumner, Charlotte and
                      Calabrese, Daniela and Walk, David and Vujovic, Dragan and
                      Park, Eun and Muntoni, Francesco and Donlevy, Gabrielle and
                      Acsadi, Gyula and Day, John and Burns, Joshua and Li, Jun
                      and Krajewski, Karen and Eichinger, Kate and Cornett, Kayla
                      and Mullen, Krista and Perez, Laura and Gutmann, Laurie and
                      Barrett, Maria and Saporta, Mario and Skorupinska, Mariola
                      and Grant, Natalie and Bray, Paula and Seyedsadjadi, Reza
                      and Zuccarino, Riccardo and Finkel, Richard and Lewis,
                      Richard and Yum, Sabrina and Hilbert, Sarah and Thomas,
                      Simone and Behrens-Spraggins, Steffen and Jones, Tara and
                      Grider, Tiffany and Estilow, Tim and Fridman, Vera and
                      Reilly, Mary M and Shy, Michael E and Bacon, Chelsea J and
                      Feely, Shawna M E and Rossor, Alexander M and Herrmann,
                      David N},
      collaboration = {Consortium, Inherited Neuropathy},
      title        = {{A}ssessing non-{M}endelian inheritance in inherited
                      axonopathies.},
      journal      = {Genetics in medicine},
      volume       = {22},
      number       = {12},
      issn         = {1530-0366},
      address      = {London, UK},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2021-00228},
      pages        = {2114 - 2119},
      year         = {2020},
      note         = {ISSN 1530-0366 not unique: **3 hits**.},
      abstract     = {Inherited axonopathies (IA) are rare, clinically and
                      genetically heterogeneous diseases that lead to
                      length-dependent degeneration of the long axons in central
                      (hereditary spastic paraplegia [HSP]) and peripheral
                      (Charcot-Marie-Tooth type 2 [CMT2]) nervous systems.
                      Mendelian high-penetrance alleles in over 100 different
                      genes have been shown to cause IA; however, about $50\%$ of
                      IA cases do not receive a genetic diagnosis. A more
                      comprehensive spectrum of causative genes and alleles is
                      warranted, including causative and risk alleles, as well as
                      oligogenic multilocus inheritance.Through international
                      collaboration, IA exome studies are beginning to be
                      sufficiently powered to perform a pilot rare variant burden
                      analysis. After extensive quality control, our cohort
                      contained 343 CMT cases, 515 HSP cases, and 935
                      non-neurological controls. We assessed the cumulative
                      mutational burden across disease genes, explored the
                      evidence for multilocus inheritance, and performed an
                      exome-wide rare variant burden analysis.We replicated the
                      previously described mutational burden in a much larger
                      cohort of CMT cases, and observed the same effect in HSP
                      cases. We identified a preliminary risk allele for CMT in
                      the EXOC4 gene (p value= 6.9 × 10-6, odds ratio [OR] = 2.1)
                      and explored the possibility of multilocus inheritance in
                      IA.Our results support the continuing emergence of complex
                      inheritance mechanisms in historically Mendelian disorders.},
      keywords     = {Alleles / Charcot-Marie-Tooth Disease: diagnosis /
                      Charcot-Marie-Tooth Disease: genetics / Humans / Mutation /
                      Spastic Paraplegia, Hereditary: diagnosis / Spastic
                      Paraplegia, Hereditary: genetics / Exome Sequencing /
                      Charcot–Marie–Tooth disease (Other) / hereditary spastic
                      paraplegia (Other) / inherited axonopathy (Other) /
                      mutational burden (Other) / oligogenic inheritance (Other)},
      cin          = {AG Maetzler},
      ddc          = {610},
      cid          = {I:(DE-2719)5000024},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32741968},
      pmc          = {pmc:PMC7710562},
      doi          = {10.1038/s41436-020-0924-0},
      url          = {https://pub.dzne.de/record/154375},
}