{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:48:39Z","timestamp":1791316119898,"version":"4.3.1"},"reference-count":54,"publisher":"Hindawi Limited","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":166,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Association Fran\u00e7aise contre les Myopathies (AFM)-T\u00e9l\u00e9thon (strategical pole MNH Decrypt)"},{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1002\/humu.22760","type":"journal-article","created":{"date-parts":[[2015,1,23]],"date-time":"2015-01-23T12:58:51Z","timestamp":1422017931000},"page":"443-453","source":"Crossref","is-referenced-by-count":56,"title":["Identification of Variants in the 4q35 Gene<i>FAT1<\/i>in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype"],"prefix":"10.1155","volume":"36","author":[{"given":"Francesca","family":"Puppo","sequence":"first","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenie","family":"Dionnet","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-C\u00e9cile","family":"Gaillard","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascaline","family":"Gaildrat","sequence":"additional","affiliation":[{"name":"Institute for Research and Innovation in Biomedecine (IRIB); Inserm, UMR 1079; University of Rouen; Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Castro","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Vovan","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire; AP-HM; H\u00f4pital d'Enfants de la Timone; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Bertaux","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire; AP-HM; H\u00f4pital d'Enfants de la Timone; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafaelle","family":"Bernard","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire; AP-HM; H\u00f4pital d'Enfants de la Timone; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"},{"name":"Department of Neurology and Neuromuscular Diseases; CHU La Timone; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanako","family":"Goto","sequence":"additional","affiliation":[{"name":"NCNP; National Institute of Neuroscience; Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"NCNP; National Institute of Neuroscience; Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology; Tokyo Medical University; Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Magdinier","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Krahn","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire; AP-HM; H\u00f4pital d'Enfants de la Timone; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Helmbacher","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; CNRS; IBDM; UMR 7288 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Bartoli","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire; AP-HM; H\u00f4pital d'Enfants de la Timone; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"L\u00e9vy","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9; GMGF; Marseille France"},{"name":"Inserm; UMR; S 910 Marseille France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire; AP-HM; H\u00f4pital d'Enfants de la Timone; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2015,3,19]]},"reference":[{"key":"10.1002\/humu.22760-BIB0001|humu22760-cit-0001","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/sj.mp.4002111","article-title":"Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder","volume":"13","author":"Abou Jamra","year":"2008","journal-title":"Mol Psychiatry"},{"key":"10.1002\/humu.22760-BIB0002|humu22760-cit-0002","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1097\/01.mao.0000244362.39696.c8","article-title":"Cochlear function in facioscapulohumeral muscular dystrophy","volume":"28","author":"Balatsouras","year":"2007","journal-title":"Otol Neurotol"},{"key":"10.1002\/humu.22760-BIB0003|humu22760-cit-0003","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ejmg.2006.09.003","article-title":"Phenotypic variability of a 4q34->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother","volume":"50","author":"Bendavid","year":"2007","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.22760-BIB0004|humu22760-cit-0004","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1016\/j.cub.2006.09.045","article-title":"Fat cadherin modulates organ size in Drosophila via the Salvador\/Warts\/Hippo signaling pathway","volume":"16","author":"Bennett","year":"2006","journal-title":"Curr Biol CB"},{"key":"10.1002\/humu.22760-BIB0005|humu22760-cit-0005","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1101\/gad.947102","article-title":"DNA methylation patterns and epigenetic memory","volume":"16","author":"Bird","year":"2002","journal-title":"Genes Dev"},{"key":"10.1002\/humu.22760-BIB0006|humu22760-cit-0006","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/sj.mp.4001784","article-title":"Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele","volume":"11","author":"Blair","year":"2006","journal-title":"Mol Psychiatry"},{"key":"10.1002\/humu.22760-BIB0007|humu22760-cit-0007","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ng.142","article-title":"SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation","volume":"40","author":"Blewitt","year":"2008","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22760-BIB0008|humu22760-cit-0008","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1038\/leu.2011.319","article-title":"The Fat1 cadherin is overexpressed and an independent prognostic factor for survival in paired diagnosis-relapse samples of precursor B-cell acute lymphoblastic leukemia","volume":"26","author":"Bock","year":"2012","journal-title":"Leukemia"},{"key":"10.1002\/humu.22760-BIB0009|humu22760-cit-0009","doi-asserted-by":"crossref","first-page":"4206","DOI":"10.1093\/hmg\/ddt272","article-title":"Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy","volume":"22","author":"Broucqsault","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22760-BIB0010|humu22760-cit-0010","doi-asserted-by":"crossref","first-page":"e1003550","DOI":"10.1371\/journal.pgen.1003550","article-title":"Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy","volume":"9","author":"Caruso","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22760-BIB0011|humu22760-cit-0011","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/ng1887","article-title":"Delineation of a Fat tumor suppressor pathway","volume":"38","author":"Cho","year":"2006","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22760-BIB0012|humu22760-cit-0012","doi-asserted-by":"crossref","first-page":"3575","DOI":"10.1128\/MCB.23.10.3575-3582.2003","article-title":"Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype","volume":"23","author":"Ciani","year":"2003","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22760-BIB0013|humu22760-cit-0013","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22760-BIB0014|humu22760-cit-0014","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/hmg\/2.12.2037","article-title":"FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit","volume":"2","author":"Deutekom","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22760-BIB0015|humu22760-cit-0015","doi-asserted-by":"crossref","first-page":"18157","DOI":"10.1073\/pnas.0708659104","article-title":"DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1","volume":"104","author":"Dixit","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22760-BIB0016|humu22760-cit-0016","doi-asserted-by":"crossref","first-page":"2709","DOI":"10.1093\/nar\/10.8.2709","article-title":"Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells","volume":"10","author":"Ehrlich","year":"1982","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22760-BIB0017|humu22760-cit-0017","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0378-1119(99)00267-X","article-title":"Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element","volume":"236","author":"Gabri\u00ebls","year":"1999","journal-title":"Gene"},{"key":"10.1002\/humu.22760-BIB0018|humu22760-cit-0018","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/978-1-60761-759-4_15","article-title":"Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants","volume":"653","author":"Gaildrat","year":"2010","journal-title":"Methods Mol Biol Clifton NJ"},{"key":"10.1002\/humu.22760-BIB0019|humu22760-cit-0019","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1212\/WNL.0000000000000708","article-title":"Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers","volume":"83","author":"Gaillard","year":"2014","journal-title":"Neurology"},{"key":"10.1002\/humu.22760-BIB0020|humu22760-cit-0020","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.devcel.2012.06.011","article-title":"Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome","volume":"23","author":"Gendrel","year":"2012","journal-title":"Dev Cell"},{"key":"10.1002\/humu.22760-BIB0021|humu22760-cit-0021","doi-asserted-by":"crossref","first-page":"6955","DOI":"10.1074\/jbc.M809333200","article-title":"Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells","volume":"284","author":"Hou","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22760-BIB0022|humu22760-cit-0022","doi-asserted-by":"crossref","first-page":"4419","DOI":"10.1093\/hmg\/dds284","article-title":"Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis","volume":"21","author":"Jones","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22760-BIB0023|humu22760-cit-0023","doi-asserted-by":"crossref","first-page":"67","DOI":"10.9758\/cpn.2013.11.2.67","article-title":"Association between FAT gene and schizophrenia in the Korean population","volume":"11","author":"Jung","year":"2013","journal-title":"Clin Psychopharmacol Neurosci"},{"key":"10.1002\/humu.22760-BIB0024|humu22760-cit-0024","first-page":"2990","article-title":"[Myopathy of the landouzy-d'ejerine type. Report of a historical case]","volume":"40","author":"Justin Besancon","year":"1964","journal-title":"Sem H\u00f4p"},{"key":"10.1002\/humu.22760-BIB0054|humu22760-cit-0054","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1002\/humu.22710","article-title":"Identification of splicing defects caused by mutations in the dysferlin gene","volume":"35","author":"Kergourlay","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22760-BIB0025|humu22760-cit-0025","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ejmg.2007.09.004","article-title":"Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH","volume":"51","author":"Kitsiou-Tzeli","year":"2008","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.22760-BIB0026|humu22760-cit-0026","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.191","article-title":"Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1","author":"Larsen","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22760-BIB0027|humu22760-cit-0027","doi-asserted-by":"crossref","first-page":"4574","DOI":"10.1158\/0008-5472.CAN-12-0636","article-title":"Differentially expressed genes regulating the progression of ductal carcinoma in situ to invasive breast cancer","volume":"72","author":"Lee","year":"2012","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22760-BIB0028|humu22760-cit-0028","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1093\/hmg\/ddu486","article-title":"Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2","volume":"24","author":"Lemmers","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22760-BIB0029|humu22760-cit-0029","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ng999","article-title":"Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere","volume":"32","author":"Lemmers","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22760-BIB0030|humu22760-cit-0030","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ng.2454","article-title":"Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2","volume":"44","author":"Lemmers","year":"2012","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22760-BIB0031|humu22760-cit-0031","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A unifying genetic model for facioscapulohumeral muscular dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"key":"10.1002\/humu.22760-BIB0032|humu22760-cit-0032","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1086\/521986","article-title":"Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy","volume":"81","author":"Lemmers","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22760-BIB0033|humu22760-cit-0033","doi-asserted-by":"crossref","first-page":"3769","DOI":"10.1038\/sj.emboj.7600380","article-title":"Protocadherin FAT1 binds Ena\/VASP proteins and is necessary for actin dynamics and cell polarization","volume":"23","author":"Moeller","year":"2004","journal-title":"EMBO J"},{"key":"10.1002\/humu.22760-BIB0034|humu22760-cit-0034","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/ng.2538","article-title":"Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation","volume":"45","author":"Morris","year":"2013a","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22760-BIB0035|humu22760-cit-0035","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.4161\/cc.24305","article-title":"The FAT epidemic: a gene family frequently mutated across multiple human cancer types","volume":"12","author":"Morris","year":"2013b","journal-title":"Cell Cycle"},{"key":"10.1002\/humu.22760-BIB0036|humu22760-cit-0036","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1136\/adc.42.224.428","article-title":"A large deletion of the long arm of chromosome no. 4 in a child with limb abnormalities","volume":"42","author":"Ockey","year":"1967","journal-title":"Arch Dis Child"},{"key":"10.1002\/humu.22760-BIB0037|humu22760-cit-0037","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/ng1262","article-title":"Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy","volume":"35","author":"Overveld","year":"2003","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22760-BIB0038|humu22760-cit-0038","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/hmg\/9.19.2879","article-title":"Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity","volume":"9","author":"Overveld","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22760-BIB0039|humu22760-cit-0039","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/0960-8966(91)90094-9","article-title":"Diagnostic criteria for facioscapulohumeral muscular dystrophy","volume":"1","author":"Padberg","year":"1991","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.22760-BIB0040|humu22760-cit-0040","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/s00439-011-1100-z","article-title":"Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?","volume":"131","author":"Richards","year":"2012","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22760-BIB0041|humu22760-cit-0041","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2013.08.004","article-title":"The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1","volume":"93","author":"Sacconi","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22760-BIB0042|humu22760-cit-0042","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.braindev.2006.08.012","article-title":"Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy","volume":"29","author":"Saito","year":"2007","journal-title":"Brain Dev"},{"key":"10.1002\/humu.22760-BIB0043|humu22760-cit-0043","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1136\/jmedgenet-2011-100454","article-title":"Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling","volume":"49","author":"Scionti","year":"2012a","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22760-BIB0044|humu22760-cit-0044","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.ajhg.2012.02.019","article-title":"Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy","volume":"90","author":"Scionti","year":"2012b","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22760-BIB0045|humu22760-cit-0045","doi-asserted-by":"crossref","first-page":"8579","DOI":"10.1073\/pnas.0811691106","article-title":"Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development","volume":"106","author":"Skouloudaki","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22760-BIB0046|humu22760-cit-0046","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1002\/mus.21766","article-title":"Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families","volume":"42","author":"Spurlock","year":"2010","journal-title":"Muscle Nerve"},{"key":"10.1002\/humu.22760-BIB0047|humu22760-cit-0047","doi-asserted-by":"crossref","first-page":"e26820","DOI":"10.1371\/journal.pone.0026820","article-title":"The FSHD atrophic myotube phenotype is caused by DUX4 expression","volume":"6","author":"Vanderplanck","year":"2011","journal-title":"PloS One"},{"key":"10.1002\/humu.22760-BIB0048|humu22760-cit-0048","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.nmd.2006.07.018","article-title":"Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)","volume":"16","author":"Wallefeld","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.22760-BIB0049|humu22760-cit-0049","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22760-BIB0050|humu22760-cit-0050","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/humu.21160","article-title":"Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping","volume":"31","author":"Wein","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22760-BIB0051|humu22760-cit-0051","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/0140-6736(90)92148-B","article-title":"Location of facioscapulohumeral muscular dystrophy gene on chromosome 4","volume":"336","author":"Wijmenga","year":"1990","journal-title":"Lancet"},{"key":"10.1002\/humu.22760-BIB0052|humu22760-cit-0052","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1212\/01.WNL.0000133126.86377.E8","article-title":"Ventilatory support in facioscapulohumeral muscular dystrophy","volume":"63","author":"Wohlgemuth","year":"2004","journal-title":"Neurology"},{"key":"10.1002\/humu.22760-BIB0053|humu22760-cit-0053","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jns.2003.12.010","article-title":"FSHD-like patients without 4q35 deletion","volume":"219","author":"Yamanaka","year":"2004","journal-title":"J Neurol Sci"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22760","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22760","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22760\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:15Z","timestamp":1672332795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,19]]},"references-count":54,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22760","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3,19]]}}}