{"id":130033,"date":"2025-08-08T21:14:13","date_gmt":"2025-08-08T21:14:13","guid":{"rendered":"https:\/\/www.europesays.com\/us\/130033\/"},"modified":"2025-08-08T21:14:13","modified_gmt":"2025-08-08T21:14:13","slug":"natural-history-of-sptbn4-related-neurodevelopmental-disorder-with-hypotonia-neuropathy-and-deafness-orphanet-journal-of-rare-diseases","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/130033\/","title":{"rendered":"Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases"},"content":{"rendered":"<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"1.\">\n<p class=\"c-article-references__text\" id=\"ref-CR1\">Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, et al. Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA Psychiat. 2017;74:293\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 1\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Diagnostic%20yield%20and%20novel%20candidate%20genes%20by%20exome%20sequencing%20in%20152%20consanguineous%20families%20with%20neurodevelopmental%20disorders&amp;journal=JAMA%20Psychiat&amp;volume=74&amp;pages=293-299&amp;publication_year=2017&amp;author=Reuter%2CMS&amp;author=Tawamie%2CH&amp;author=Buchert%2CR&amp;author=Hosny%20Gebril%2CO&amp;author=Froukh%2CT&amp;author=Thiel%2CC&amp;author=Uebe%2CS&amp;author=Ekici%2CAB&amp;author=Krumbiegel%2CM&amp;author=Zweier%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"2.\">\n<p class=\"c-article-references__text\" id=\"ref-CR2\">Howe KL, Achuthan P, Allen J, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Azov AG, Bennett R, Bhai J, et al. Ensembl 2021. Nucleic Acids Res. 2021;49:D884\u201391.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXntFCis7o%3D\" aria-label=\"CAS reference 2\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33137190\" aria-label=\"PubMed reference 2\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 2\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Ensembl%202021&amp;journal=Nucleic%20Acids%20Res&amp;volume=49&amp;pages=D884-D891&amp;publication_year=2021&amp;author=Howe%2CKL&amp;author=Achuthan%2CP&amp;author=Allen%2CJ&amp;author=Allen%2CJ&amp;author=Alvarez-Jarreta%2CJ&amp;author=Amode%2CMR&amp;author=Armean%2CIM&amp;author=Azov%2CAG&amp;author=Bennett%2CR&amp;author=Bhai%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"3.\">\n<p class=\"c-article-references__text\" id=\"ref-CR3\">Uniprot: The Universal Protein Knowledgebase In 2021. Nucleic Acids Res. 2021; 49: D480-D489.<\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"4.\">\n<p class=\"c-article-references__text\" id=\"ref-CR4\">Hausler MG, Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M. A novel homozygous splice-site mutation in the Sptbn4 gene causes axonal neuropathy without intellectual disability. Eur J Med Genet. 2020;63:103826.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31857255\" aria-label=\"PubMed reference 4\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 4\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20novel%20homozygous%20splice-site%20mutation%20in%20the%20Sptbn4%20gene%20causes%20axonal%20neuropathy%20without%20intellectual%20disability&amp;journal=Eur%20J%20Med%20Genet&amp;volume=63&amp;publication_year=2020&amp;author=Hausler%2CMG&amp;author=Begemann%2CM&amp;author=Lidov%2CHG&amp;author=Kurth%2CI&amp;author=Darras%2CBT&amp;author=Elbracht%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"5.\">\n<p class=\"c-article-references__text\" id=\"ref-CR5\">Han B, Zhou R, Xia C, Zhuang X. Structural organization of the actin-spectrin-based membrane skeleton in dendrites and soma of neurons. Proc Natl Acad Sci USA. 2017;114:E6678\u201385.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXht1WgtLbP\" aria-label=\"CAS reference 5\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28739933\" aria-label=\"PubMed reference 5\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5559029\" aria-label=\"PubMed Central reference 5\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 5\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Structural%20organization%20of%20the%20actin-spectrin-based%20membrane%20skeleton%20in%20dendrites%20and%20soma%20of%20neurons&amp;journal=Proc%20Natl%20Acad%20Sci%20USA&amp;volume=114&amp;pages=E6678-E6685&amp;publication_year=2017&amp;author=Han%2CB&amp;author=Zhou%2CR&amp;author=Xia%2CC&amp;author=Zhuang%2CX\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"6.\">\n<p class=\"c-article-references__text\" id=\"ref-CR6\">Machnicka B, Czogalla A, Hryniewicz-Jankowska A, Boguslawska DM, Grochowalska R, Heger E, Sikorski AF. Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters. Biochim Biophys Acta. 2014;1838:620\u201334.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3sXos12ktb4%3D\" aria-label=\"CAS reference 6\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=23673272\" aria-label=\"PubMed reference 6\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 6\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Spectrins%3A%20a%20structural%20platform%20for%20stabilization%20and%20activation%20of%20membrane%20channels%2C%20receptors%20and%20transporters&amp;journal=Biochim%20Biophys%20Acta&amp;volume=1838&amp;pages=620-634&amp;publication_year=2014&amp;author=Machnicka%2CB&amp;author=Czogalla%2CA&amp;author=Hryniewicz-Jankowska%2CA&amp;author=Boguslawska%2CDM&amp;author=Grochowalska%2CR&amp;author=Heger%2CE&amp;author=Sikorski%2CAF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"7.\">\n<p class=\"c-article-references__text\" id=\"ref-CR7\">Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke M. A recessive mutation in Beta-Iv-Spectrin (Sptbn4) associates with congenital myopathy, neuropathy, and central deafness. Hum Genet. 2017;136:903\u201310.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXos1SlsLc%3D\" aria-label=\"CAS reference 7\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28540413\" aria-label=\"PubMed reference 7\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 7\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20recessive%20mutation%20in%20Beta-Iv-Spectrin%20%28Sptbn4%29%20associates%20with%20congenital%20myopathy%2C%20neuropathy%2C%20and%20central%20deafness&amp;journal=Hum%20Genet&amp;volume=136&amp;pages=903-910&amp;publication_year=2017&amp;author=Knierim%2CE&amp;author=Gill%2CE&amp;author=Seifert%2CF&amp;author=Morales-Gonzalez%2CS&amp;author=Unudurthi%2CSD&amp;author=Hund%2CTJ&amp;author=Stenzel%2CW&amp;author=Schuelke%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"8.\">\n<p class=\"c-article-references__text\" id=\"ref-CR8\">Wang CC, Ortiz-Gonz\u00e1lez XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, et al. \u0392iv spectrinopathies cause profound intellectual disability, congenital hypotonia, and motor axonal neuropathy. Am J Hum Genet. 2018;102:1158\u201368.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1cXhtVKnsbbK\" aria-label=\"CAS reference 8\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29861105\" aria-label=\"PubMed reference 8\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5992132\" aria-label=\"PubMed Central reference 8\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 8\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=%CE%92iv%20spectrinopathies%20cause%20profound%20intellectual%20disability%2C%20congenital%20hypotonia%2C%20and%20motor%20axonal%20neuropathy&amp;journal=Am%20J%20Hum%20Genet&amp;volume=102&amp;pages=1158-1168&amp;publication_year=2018&amp;author=Wang%2CCC&amp;author=Ortiz-Gonz%C3%A1lez%2CXR&amp;author=Yum%2CSW&amp;author=Gill%2CSM&amp;author=White%2CA&amp;author=Kelter%2CE&amp;author=Seaver%2CLH&amp;author=Lee%2CS&amp;author=Wiley%2CG&amp;author=Gaffney%2CPM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"9.\">\n<p class=\"c-article-references__text\" id=\"ref-CR9\">Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, Alzahrani F, Patel N, Ibrahim N, et al. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017;136:1419\u201329.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28940097\" aria-label=\"PubMed reference 9\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 9\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Expanding%20the%20genetic%20heterogeneity%20of%20intellectual%20disability&amp;journal=Hum%20Genet&amp;volume=136&amp;pages=1419-1429&amp;publication_year=2017&amp;author=Anazi%2CS&amp;author=Maddirevula%2CS&amp;author=Salpietro%2CV&amp;author=Asi%2CYT&amp;author=Alsahli%2CS&amp;author=Alhashem%2CA&amp;author=Shamseldin%2CHE&amp;author=Alzahrani%2CF&amp;author=Patel%2CN&amp;author=Ibrahim%2CN\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"10.\">\n<p class=\"c-article-references__text\" id=\"ref-CR10\">Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzi\u0144ska-Bar M, Wszolek ZK, Kennelly KD, et al. Whole-exome sequencing for variant discovery in blepharospasm. Mol Genet Genomic Med. 2018;6:601\u201326.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1cXhsVOjurvM\" aria-label=\"CAS reference 10\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29770609\" aria-label=\"PubMed reference 10\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6081235\" aria-label=\"PubMed Central reference 10\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 10\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Whole-exome%20sequencing%20for%20variant%20discovery%20in%20blepharospasm&amp;journal=Mol%20Genet%20Genomic%20Med&amp;volume=6&amp;pages=601-626&amp;publication_year=2018&amp;author=Tian%2CJ&amp;author=Vemula%2CSR&amp;author=Xiao%2CJ&amp;author=Valente%2CEM&amp;author=Defazio%2CG&amp;author=Petrucci%2CS&amp;author=Gigante%2CAF&amp;author=Rudzi%C5%84ska-Bar%2CM&amp;author=Wszolek%2CZK&amp;author=Kennelly%2CKD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"11.\">\n<p class=\"c-article-references__text\" id=\"ref-CR11\">Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, et al. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet. 2019;104:1182\u2013201.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXhtVegt7rL\" aria-label=\"CAS reference 11\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31130284\" aria-label=\"PubMed reference 11\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6562004\" aria-label=\"PubMed Central reference 11\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 11\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Lessons%20learned%20from%20large-scale%2C%20first-tier%20clinical%20exome%20sequencing%20in%20a%20highly%20consanguineous%20population&amp;journal=Am%20J%20Hum%20Genet&amp;volume=104&amp;pages=1182-1201&amp;publication_year=2019&amp;author=Monies%2CD&amp;author=Abouelhoda%2CM&amp;author=Assoum%2CM&amp;author=Moghrabi%2CN&amp;author=Rafiullah%2CR&amp;author=Almontashiri%2CN&amp;author=Alowain%2CM&amp;author=Alzaidan%2CH&amp;author=Alsayed%2CM&amp;author=Subhani%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"12.\">\n<p class=\"c-article-references__text\" id=\"ref-CR12\">Buelow M, Sussmuth D, Smith LD, Aryani O, Castiglioni C, Stenzel W, Bertini E, Schuelke M, Knierim E. Novel Bi-Allelic variants expand the Sptbn4-related genetic and phenotypic spectrum. Eur J Hum Genet. 2021;29:1121\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXhtlWqtr7F\" aria-label=\"CAS reference 12\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33772159\" aria-label=\"PubMed reference 12\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8298470\" aria-label=\"PubMed Central reference 12\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 12\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Novel%20Bi-Allelic%20variants%20expand%20the%20Sptbn4-related%20genetic%20and%20phenotypic%20spectrum&amp;journal=Eur%20J%20Hum%20Genet&amp;volume=29&amp;pages=1121-1128&amp;publication_year=2021&amp;author=Buelow%2CM&amp;author=Sussmuth%2CD&amp;author=Smith%2CLD&amp;author=Aryani%2CO&amp;author=Castiglioni%2CC&amp;author=Stenzel%2CW&amp;author=Bertini%2CE&amp;author=Schuelke%2CM&amp;author=Knierim%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"13.\">\n<p class=\"c-article-references__text\" id=\"ref-CR13\">Belkheir AM, Reunert J, Elpers C, Van Den Heuvel L, Rodenburg R, Seelhofer A, Rust S, Jeibmann A, Frosch M, Marquardt T. Severe form of Ssiv-spectrin deficiency with mitochondrial dysfunction and cardiomyopathy\u2014a case report. Front Neurol. 2021;12:643805.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33986717\" aria-label=\"PubMed reference 13\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8110827\" aria-label=\"PubMed Central reference 13\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 13\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Severe%20form%20of%20Ssiv-spectrin%20deficiency%20with%20mitochondrial%20dysfunction%20and%20cardiomyopathy%E2%80%94a%20case%20report&amp;journal=Front%20Neurol&amp;volume=12&amp;publication_year=2021&amp;author=Belkheir%2CAM&amp;author=Reunert%2CJ&amp;author=Elpers%2CC&amp;author=Heuvel%2CL&amp;author=Rodenburg%2CR&amp;author=Seelhofer%2CA&amp;author=Rust%2CS&amp;author=Jeibmann%2CA&amp;author=Frosch%2CM&amp;author=Marquardt%2CT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"14.\">\n<p class=\"c-article-references__text\" id=\"ref-CR14\">Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, et al. The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance. Am J Hum Genet. 2019;105:132\u201350.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXht1Wqt7vL\" aria-label=\"CAS reference 14\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31230720\" aria-label=\"PubMed reference 14\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6612529\" aria-label=\"PubMed Central reference 14\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 14\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20genomics%20of%20arthrogryposis%2C%20a%20complex%20trait%3A%20candidate%20genes%20and%20further%20evidence%20for%20oligogenic%20inheritance&amp;journal=Am%20J%20Hum%20Genet&amp;volume=105&amp;pages=132-150&amp;publication_year=2019&amp;author=Pehlivan%2CD&amp;author=Bayram%2CY&amp;author=Gunes%2CN&amp;author=Coban%20Akdemir%2CZ&amp;author=Shukla%2CA&amp;author=Bierhals%2CT&amp;author=Tabakci%2CB&amp;author=Sahin%2CY&amp;author=Gezdirici%2CA&amp;author=Fatih%2CJM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"15.\">\n<p class=\"c-article-references__text\" id=\"ref-CR15\">Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EE. Sex-based analysis of de novo variants in neurodevelopmental disorders. Am J Hum Genet. 2019;105:1274\u201385.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXit1KqsrvI\" aria-label=\"CAS reference 15\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31785789\" aria-label=\"PubMed reference 15\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6904808\" aria-label=\"PubMed Central reference 15\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 15\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Sex-based%20analysis%20of%20de%20novo%20variants%20in%20neurodevelopmental%20disorders&amp;journal=Am%20J%20Hum%20Genet&amp;volume=105&amp;pages=1274-1285&amp;publication_year=2019&amp;author=Turner%2CTN&amp;author=Wilfert%2CAB&amp;author=Bakken%2CTE&amp;author=Bernier%2CRA&amp;author=Pepper%2CMR&amp;author=Zhang%2CZ&amp;author=Torene%2CRI&amp;author=Retterer%2CK&amp;author=Eichler%2CEE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"16.\">\n<p class=\"c-article-references__text\" id=\"ref-CR16\">Mitra I, Huang B, Mousavi N, Ma N, Lamkin M, Yanicky R, Shleizer-Burko S, Lohmueller KE, Gymrek M. Patterns of de novo tandem repeat mutations and their role in autism. Nature. 2021;589:246\u201350.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXht1Omu74%3D\" aria-label=\"CAS reference 16\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33442040\" aria-label=\"PubMed reference 16\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7810352\" aria-label=\"PubMed Central reference 16\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 16\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Patterns%20of%20de%20novo%20tandem%20repeat%20mutations%20and%20their%20role%20in%20autism&amp;journal=Nature&amp;volume=589&amp;pages=246-250&amp;publication_year=2021&amp;author=Mitra%2CI&amp;author=Huang%2CB&amp;author=Mousavi%2CN&amp;author=Ma%2CN&amp;author=Lamkin%2CM&amp;author=Yanicky%2CR&amp;author=Shleizer-Burko%2CS&amp;author=Lohmueller%2CKE&amp;author=Gymrek%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"17.\">\n<p class=\"c-article-references__text\" id=\"ref-CR17\">Liu Y, Chang X, Qu H-Q, Tian L, Glessner J, Qu J, Li D, Qiu H, Sleiman P, Hakonarson H. Rare recurrent variants in noncoding regions impact attention-deficit hyperactivity disorder (Adhd) gene networks in children of both African American and European American ancestry. Genes. 2021;12(2):310. <a href=\"https:\/\/doi.org\/10.3390\/genes12020310\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.3390\/genes12020310\" target=\"_blank\" rel=\"noopener\">https:\/\/doi.org\/10.3390\/genes12020310<\/a>.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3390\/genes12020310\" data-track-item_id=\"10.3390\/genes12020310\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3390%2Fgenes12020310\" aria-label=\"Article reference 17\" data-doi=\"10.3390\/genes12020310\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXovFaltbc%3D\" aria-label=\"CAS reference 17\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33671795\" aria-label=\"PubMed reference 17\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7927037\" aria-label=\"PubMed Central reference 17\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 17\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Rare%20recurrent%20variants%20in%20noncoding%20regions%20impact%20attention-deficit%20hyperactivity%20disorder%20%28Adhd%29%20gene%20networks%20in%20children%20of%20both%20African%20American%20and%20European%20American%20ancestry&amp;journal=Genes&amp;doi=10.3390%2Fgenes12020310&amp;volume=12&amp;issue=2&amp;publication_year=2021&amp;author=Liu%2CY&amp;author=Chang%2CX&amp;author=Qu%2CH-Q&amp;author=Tian%2CL&amp;author=Glessner%2CJ&amp;author=Qu%2CJ&amp;author=Li%2CD&amp;author=Qiu%2CH&amp;author=Sleiman%2CP&amp;author=Hakonarson%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"18.\">\n<p class=\"c-article-references__text\" id=\"ref-CR18\">Sun Y, Peng J, Liang D, Ye X, Xu N, Chen L, Yan D, Zhang H, Xiao B, Qiu W, et al. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay\/intellectual disability: a prospective study. Hum Mutat. 2022;43:568\u201381.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38Xoslyhs7c%3D\" aria-label=\"CAS reference 18\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35143101\" aria-label=\"PubMed reference 18\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 18\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genome%20sequencing%20demonstrates%20high%20diagnostic%20yield%20in%20children%20with%20undiagnosed%20global%20developmental%20delay%2Fintellectual%20disability%3A%20a%20prospective%20study&amp;journal=Hum%20Mutat&amp;volume=43&amp;pages=568-581&amp;publication_year=2022&amp;author=Sun%2CY&amp;author=Peng%2CJ&amp;author=Liang%2CD&amp;author=Ye%2CX&amp;author=Xu%2CN&amp;author=Chen%2CL&amp;author=Yan%2CD&amp;author=Zhang%2CH&amp;author=Xiao%2CB&amp;author=Qiu%2CW\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"19.\">\n<p class=\"c-article-references__text\" id=\"ref-CR19\">Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H. Association of rare recurrent copy number variants with congenital heart defects based on next-generation sequencing data from family trios. Front Genet. 2019;10:819.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXntVWgtL0%3D\" aria-label=\"CAS reference 19\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31552105\" aria-label=\"PubMed reference 19\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6746959\" aria-label=\"PubMed Central reference 19\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 19\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Association%20of%20rare%20recurrent%20copy%20number%20variants%20with%20congenital%20heart%20defects%20based%20on%20next-generation%20sequencing%20data%20from%20family%20trios&amp;journal=Front%20Genet&amp;volume=10&amp;publication_year=2019&amp;author=Liu%2CY&amp;author=Chang%2CX&amp;author=Glessner%2CJ&amp;author=Qu%2CH&amp;author=Tian%2CL&amp;author=Li%2CD&amp;author=Nguyen%2CK&amp;author=Sleiman%2CPMA&amp;author=Hakonarson%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"20.\">\n<p class=\"c-article-references__text\" id=\"ref-CR20\">Almuhaizea M, Almass R, Alhargan A, Albader A, Medico Salsench E, Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M, et al. Truncating mutations in Yif1b Cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathol. 2020;139:791\u20134.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32006098\" aria-label=\"PubMed reference 20\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 20\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Truncating%20mutations%20in%20Yif1b%20Cause%20a%20progressive%20encephalopathy%20with%20various%20degrees%20of%20mixed%20movement%20disorder%2C%20microcephaly%2C%20and%20epilepsy&amp;journal=Acta%20Neuropathol&amp;volume=139&amp;pages=791-794&amp;publication_year=2020&amp;author=Almuhaizea%2CM&amp;author=Almass%2CR&amp;author=Alhargan%2CA&amp;author=Albader%2CA&amp;author=Medico%20Salsench%2CE&amp;author=Howaidi%2CJ&amp;author=Ihinger%2CJ&amp;author=Karachunski%2CP&amp;author=Begtrup%2CA&amp;author=Segura%20Castell%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"21.\">\n<p class=\"c-article-references__text\" id=\"ref-CR21\">Al-Muhaizea MA, Alquait L, Alrasheed A, Alharbi S, Albader AA, Almass R, Albakheet A, Alhumaidan A, Alrasheed MM, Colak D, et al. Pyrostigmine therapy in a patient with Vamp1-related congenital myasthenic syndrome. Neuromuscul Disord. 2020;30:611\u20135.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32616363\" aria-label=\"PubMed reference 21\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 21\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Pyrostigmine%20therapy%20in%20a%20patient%20with%20Vamp1-related%20congenital%20myasthenic%20syndrome&amp;journal=Neuromuscul%20Disord&amp;volume=30&amp;pages=611-615&amp;publication_year=2020&amp;author=Al-Muhaizea%2CMA&amp;author=Alquait%2CL&amp;author=Alrasheed%2CA&amp;author=Alharbi%2CS&amp;author=Albader%2CAA&amp;author=Almass%2CR&amp;author=Albakheet%2CA&amp;author=Alhumaidan%2CA&amp;author=Alrasheed%2CMM&amp;author=Colak%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"22.\">\n<p class=\"c-article-references__text\" id=\"ref-CR22\">Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, Aldhalaan H, Perenthaler E, et al. Bi-allelic variants in hops complex subunit Vps41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 2021;144:769\u201380.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33764426\" aria-label=\"PubMed reference 22\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8041041\" aria-label=\"PubMed Central reference 22\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 22\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Bi-allelic%20variants%20in%20hops%20complex%20subunit%20Vps41%20cause%20cerebellar%20ataxia%20and%20abnormal%20membrane%20trafficking&amp;journal=Brain&amp;volume=144&amp;pages=769-780&amp;publication_year=2021&amp;author=Sanderson%2CLE&amp;author=Lanko%2CK&amp;author=Alsagob%2CM&amp;author=Almass%2CR&amp;author=Al-Ahmadi%2CN&amp;author=Najafi%2CM&amp;author=Al-Muhaizea%2CMA&amp;author=Alzaidan%2CH&amp;author=Aldhalaan%2CH&amp;author=Perenthaler%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"23.\">\n<p class=\"c-article-references__text\" id=\"ref-CR23\">Seidahmed MZ, Hamad MH, Albakheet A, Elmalik SA, Aldrees A, Al-Sufayan J, Alorainy I, Ghozzi IM, Colak D, Salih MA, et al. Ancient founder mutation in Rubcn: a second unrelated family confirms salih ataxia (Scar15). Bmc Neurol. 2020;20:207.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXhtVCqs7fI\" aria-label=\"CAS reference 23\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32450808\" aria-label=\"PubMed reference 23\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7249383\" aria-label=\"PubMed Central reference 23\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 23\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Ancient%20founder%20mutation%20in%20Rubcn%3A%20a%20second%20unrelated%20family%20confirms%20salih%20ataxia%20%28Scar15%29&amp;journal=Bmc%20Neurol&amp;volume=20&amp;publication_year=2020&amp;author=Seidahmed%2CMZ&amp;author=Hamad%2CMH&amp;author=Albakheet%2CA&amp;author=Elmalik%2CSA&amp;author=Aldrees%2CA&amp;author=Al-Sufayan%2CJ&amp;author=Alorainy%2CI&amp;author=Ghozzi%2CIM&amp;author=Colak%2CD&amp;author=Salih%2CMA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"24.\">\n<p class=\"c-article-references__text\" id=\"ref-CR24\">Comprehensive gene panels provide advantages over clinical exome sequencing for mendelian diseases. Genome Biol. 2015; 16:134.<\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"25.\">\n<p class=\"c-article-references__text\" id=\"ref-CR25\">Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, Alsayed MD, Rahbeeni Z, et al. Genetic and phenotypic characterization of Nkx6-2-related spastic ataxia and hypomyelination. Eur J Neurol. 2020;27:334\u201342.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:STN:280:DC%2BB3Mrns1SjtQ%3D%3D\" aria-label=\"CAS reference 25\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31509304\" aria-label=\"PubMed reference 25\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 25\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetic%20and%20phenotypic%20characterization%20of%20Nkx6-2-related%20spastic%20ataxia%20and%20hypomyelination&amp;journal=Eur%20J%20Neurol&amp;volume=27&amp;pages=334-342&amp;publication_year=2020&amp;author=Chelban%2CV&amp;author=Alsagob%2CM&amp;author=Kloth%2CK&amp;author=Chirita-Emandi%2CA&amp;author=Vandrovcova%2CJ&amp;author=Maroofian%2CR&amp;author=Davagnanam%2CI&amp;author=Bakhtiari%2CS&amp;author=Alsayed%2CMD&amp;author=Rahbeeni%2CZ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"26.\">\n<p class=\"c-article-references__text\" id=\"ref-CR26\">Parkinson NJ, Olsson CL, Hallows JL, Mckee-Johnson J, Keogh BP, Noben-Trauth K, Kujawa SG, Tempel BL. Mutant Beta-Spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat Genet. 2001;29:61\u20135.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD3MXmvFGmt78%3D\" aria-label=\"CAS reference 26\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=11528393\" aria-label=\"PubMed reference 26\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 26\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Mutant%20Beta-Spectrin%204%20causes%20auditory%20and%20motor%20neuropathies%20in%20quivering%20mice&amp;journal=Nat%20Genet&amp;volume=29&amp;pages=61-65&amp;publication_year=2001&amp;author=Parkinson%2CNJ&amp;author=Olsson%2CCL&amp;author=Hallows%2CJL&amp;author=Mckee-Johnson%2CJ&amp;author=Keogh%2CBP&amp;author=Noben-Trauth%2CK&amp;author=Kujawa%2CSG&amp;author=Tempel%2CBL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"27.\">\n<p class=\"c-article-references__text\" id=\"ref-CR27\">Yang Y, Lacas-Gervais S, Morest DK, Solimena M, Rasband MN. Betaiv spectrins are essential for membrane stability and the molecular organization of nodes of ranvier. J Neurosci. 2004;24:7230\u201340.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD2cXntlGisbs%3D\" aria-label=\"CAS reference 27\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=15317849\" aria-label=\"PubMed reference 27\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6729762\" aria-label=\"PubMed Central reference 27\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 27\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Betaiv%20spectrins%20are%20essential%20for%20membrane%20stability%20and%20the%20molecular%20organization%20of%20nodes%20of%20ranvier&amp;journal=J%20Neurosci&amp;volume=24&amp;pages=7230-7240&amp;publication_year=2004&amp;author=Yang%2CY&amp;author=Lacas-Gervais%2CS&amp;author=Morest%2CDK&amp;author=Solimena%2CM&amp;author=Rasband%2CMN\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"28.\">\n<p class=\"c-article-references__text\" id=\"ref-CR28\">Komada M, Soriano P. [Beta]Iv-spectrin regulates sodium channel clustering through Ankyrin-G at axon initial segments and nodes of ranvier. J Cell Biol. 2002;156:337\u201348.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD38XosFCltw%3D%3D\" aria-label=\"CAS reference 28\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=11807096\" aria-label=\"PubMed reference 28\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2199236\" aria-label=\"PubMed Central reference 28\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 28\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=%5BBeta%5DIv-spectrin%20regulates%20sodium%20channel%20clustering%20through%20Ankyrin-G%20at%20axon%20initial%20segments%20and%20nodes%20of%20ranvier&amp;journal=J%20Cell%20Biol&amp;volume=156&amp;pages=337-348&amp;publication_year=2002&amp;author=Komada%2CM&amp;author=Soriano%2CP\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"29.\">\n<p class=\"c-article-references__text\" id=\"ref-CR29\">Sanchez-Mut JV, Aso E, Panayotis N, Lott I, Dierssen M, Rabano A, Urdinguio RG, Fernandez AF, Astudillo A, Martin-Subero JI, et al. DNA methylation map of mouse and human brain identifies target genes in alzheimer\u2019s disease. Brain. 2013;136:3018\u201327.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=24030951\" aria-label=\"PubMed reference 29\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3784285\" aria-label=\"PubMed Central reference 29\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 29\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNA%20methylation%20map%20of%20mouse%20and%20human%20brain%20identifies%20target%20genes%20in%20alzheimer%27s%20disease&amp;journal=Brain&amp;volume=136&amp;pages=3018-3027&amp;publication_year=2013&amp;author=Sanchez-Mut%2CJV&amp;author=Aso%2CE&amp;author=Panayotis%2CN&amp;author=Lott%2CI&amp;author=Dierssen%2CM&amp;author=Rabano%2CA&amp;author=Urdinguio%2CRG&amp;author=Fernandez%2CAF&amp;author=Astudillo%2CA&amp;author=Martin-Subero%2CJI\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"30.\">\n<p class=\"c-article-references__text\" id=\"ref-CR30\">Nieto-Mar\u00edn P, Tinaquero D, Utrilla RG, Cebri\u00e1n J, Gonz\u00e1lez-Guerra A, Crespo-Garc\u00eda T, C\u00e1mara-Checa A, Rubio-Alarc\u00f3n M, Dago M, Alfayate S, et al. Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or long Qt syndrome. Cardiovasc Res. 2022;118:1046\u201360.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33576403\" aria-label=\"PubMed reference 30\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 30\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Tbx5%20variants%20disrupt%20Nav1.5%20function%20differently%20in%20patients%20diagnosed%20with%20Brugada%20or%20long%20Qt%20syndrome&amp;journal=Cardiovasc%20Res&amp;volume=118&amp;pages=1046-1060&amp;publication_year=2022&amp;author=Nieto-Mar%C3%ADn%2CP&amp;author=Tinaquero%2CD&amp;author=Utrilla%2CRG&amp;author=Cebri%C3%A1n%2CJ&amp;author=Gonz%C3%A1lez-Guerra%2CA&amp;author=Crespo-Garc%C3%ADa%2CT&amp;author=C%C3%A1mara-Checa%2CA&amp;author=Rubio-Alarc%C3%B3n%2CM&amp;author=Dago%2CM&amp;author=Alfayate%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"31.\">\n<p class=\"c-article-references__text\" id=\"ref-CR31\">Saifetiarova J, Shi Q, Paukert M, Komada M, Bhat MA. Reorganization of destabilized nodes of ranvier in \u03b2iv spectrin mutants uncovers critical timelines for nodal restoration and prevention of motor paresis. J Neurosci. 2018;38:6267\u201382.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1cXhvFaqs7nP\" aria-label=\"CAS reference 31\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29907663\" aria-label=\"PubMed reference 31\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6041796\" aria-label=\"PubMed Central reference 31\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 31\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Reorganization%20of%20destabilized%20nodes%20of%20ranvier%20in%20%CE%B2iv%20spectrin%20mutants%20uncovers%20critical%20timelines%20for%20nodal%20restoration%20and%20prevention%20of%20motor%20paresis&amp;journal=J%20Neurosci&amp;volume=38&amp;pages=6267-6282&amp;publication_year=2018&amp;author=Saifetiarova%2CJ&amp;author=Shi%2CQ&amp;author=Paukert%2CM&amp;author=Komada%2CM&amp;author=Bhat%2CMA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"32.\">\n<p class=\"c-article-references__text\" id=\"ref-CR32\">Patel NJ, Nassal DM, Greer-Short AD, Unudurthi SD, Scandling BW, Gratz D, Xu X, Kalyanasundaram A, Fedorov VV, Accornero F et al. \u0392iv-Spectrin\/Stat3 complex regulates fibroblast phenotype, fibrosis, and cardiac function. Jci Insight. 2019; 4.<\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"33.\">\n<p class=\"c-article-references__text\" id=\"ref-CR33\">Zhou D, Lambert S, Malen PL, Carpenter S, Boland LM, Bennett V. Ankyring is required for clustering of voltage-gated Na channels at axon initial segments and for normal action potential firing. J Cell Biol. 1998;143:1295\u2013304.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DyaK1cXnvVKmur0%3D\" aria-label=\"CAS reference 33\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=9832557\" aria-label=\"PubMed reference 33\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2133082\" aria-label=\"PubMed Central reference 33\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 33\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Ankyring%20is%20required%20for%20clustering%20of%20voltage-gated%20Na%20channels%20at%20axon%20initial%20segments%20and%20for%20normal%20action%20potential%20firing&amp;journal=J%20Cell%20Biol&amp;volume=143&amp;pages=1295-1304&amp;publication_year=1998&amp;author=Zhou%2CD&amp;author=Lambert%2CS&amp;author=Malen%2CPL&amp;author=Carpenter%2CS&amp;author=Boland%2CLM&amp;author=Bennett%2CV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"34.\">\n<p class=\"c-article-references__text\" id=\"ref-CR34\">Sert O, Ding X, Zhang C, Mi R, Hoke A, Rasband MN. Postsynaptic Beta1 spectrin maintains Na(+) channels at the neuromuscular junction. J Physiol. 2024;602:1127\u201345.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXltVGlu7o%3D\" aria-label=\"CAS reference 34\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38441922\" aria-label=\"PubMed reference 34\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 34\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Postsynaptic%20Beta1%20spectrin%20maintains%20Na%28%2B%29%20channels%20at%20the%20neuromuscular%20junction&amp;journal=J%20Physiol&amp;volume=602&amp;pages=1127-1145&amp;publication_year=2024&amp;author=Sert%2CO&amp;author=Ding%2CX&amp;author=Zhang%2CC&amp;author=Mi%2CR&amp;author=Hoke%2CA&amp;author=Rasband%2CMN\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"35.\">\n<p class=\"c-article-references__text\" id=\"ref-CR35\">Zhang C, Joshi A, Liu Y, Sert O, Haddix SG, Teliska LH, Rasband A, Rodney GG, Rasband MN. Ankyrin-dependent Na(+) channel clustering prevents neuromuscular synapse fatigue. Curr Biol. 2021;31(3810\u20133819):E3814.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 35\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Ankyrin-dependent%20Na%28%2B%29%20channel%20clustering%20prevents%20neuromuscular%20synapse%20fatigue&amp;journal=Curr%20Biol&amp;volume=31&amp;issue=3810%E2%80%933819&amp;publication_year=2021&amp;author=Zhang%2CC&amp;author=Joshi%2CA&amp;author=Liu%2CY&amp;author=Sert%2CO&amp;author=Haddix%2CSG&amp;author=Teliska%2CLH&amp;author=Rasband%2CA&amp;author=Rodney%2CGG&amp;author=Rasband%2CMN\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel&hellip;\n","protected":false},"author":3,"featured_media":130034,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[79235,834,815,15577,3209,79234,79239,29794,79238,159,79236,67,132,68,79237],"class_list":{"0":"post-130033","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-autosomal-recessive-cerebellar-ataxia","9":"tag-general","10":"tag-genetics","11":"tag-human-genetics","12":"tag-medicine-public-health","13":"tag-n-sptbn4n","14":"tag-nedhnd","15":"tag-pharmacology-toxicology","16":"tag-sanger-sequencing","17":"tag-science","18":"tag-splicing-variant","19":"tag-united-states","20":"tag-unitedstates","21":"tag-us","22":"tag-whole-exome-sequencing"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/114995217194203107","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/130033","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=130033"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/130033\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/130034"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=130033"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=130033"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=130033"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}