{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T18:41:44Z","timestamp":1775500904821,"version":"3.50.1"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2018,10,25]],"date-time":"2018-10-25T00:00:00Z","timestamp":1540425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4,1]]},"DOI":"10.1093\/hmg\/ddy373","type":"journal-article","created":{"date-parts":[[2018,10,24]],"date-time":"2018-10-24T05:27:57Z","timestamp":1540358877000},"page":"1053-1063","source":"Crossref","is-referenced-by-count":4,"title":["Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community"],"prefix":"10.1093","volume":"28","author":[{"given":"Emile R","family":"Chimusa","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Beighton","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Kumuthini","sequence":"additional","affiliation":[{"name":"Centre for Proteomic and Genomic Research, St. Peter\u2019s Square Mall, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajkumar S","family":"Ramesar","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2018,10,25]]},"reference":[{"key":"key\n\t\t\t\t2019031903263641800_ref1","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"167","author":"Bonafe","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"key\n\t\t\t\t2019031903263641800_ref2","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF00580591","article-title":"Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis","volume":"5","author":"Beighton","year":"1980","journal-title":"Skeletal Radiol."},{"key":"key\n\t\t\t\t2019031903263641800_ref3","first-page":"772","article-title":"Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis","volume":"64","author":"Beighton","year":"1983","journal-title":"S. Afr. Med. J."},{"key":"key\n\t\t\t\t2019031903263641800_ref4","doi-asserted-by":"crossref","DOI":"10.1055\/s-2008-1053143","article-title":"Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis","volume-title":"R\u00f6Fo-Fortschritte auf dem Gebiet der R\u00f6ntgenstrahlen und der bildgebenden Verfahren","author":"Kozlowski","year":"1984"},{"key":"key\n\t\t\t\t2019031903263641800_ref5","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1111\/j.1399-0004.1984.tb01065.x","article-title":"The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity","volume":"26","author":"Beighton","year":"1984","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref6","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/j.1399-0004.1991.tb03013.x","article-title":"The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa","volume":"39","author":"Torrington","year":"1991","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref7","first-page":"219","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates","volume":"7","author":"Christianson","year":"1996","journal-title":"Genet. Couns."},{"key":"key\n\t\t\t\t2019031903263641800_ref8","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1111\/cge.12413","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families","volume":"87","author":"Vorster","year":"2014","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref9","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.ajhg.2011.10.016","article-title":"Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity","volume":"89","author":"Boyden","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref10","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/ajmg.a.30881","article-title":"Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita","volume":"137A","author":"Sulko","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref11","first-page":"760","article-title":"Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type","volume":"89","author":"Byung-Joo","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref12","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.ajhg.2013.04.016","article-title":"Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder","volume":"92","author":"Malfait","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref13","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/nmeth.1974","article-title":"The 1000 Genomes Project: data management and community access","volume":"9","author":"Clarke","year":"2012","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t2019031903263641800_ref14","first-page":"177","volume-title":"Pathfinders: A Global History of Exploration","author":"Fernandez-Armesto, F","year":"2006"},{"key":"key\n\t\t\t\t2019031903263641800_ref15","volume-title":"A Hitchhiker's Guide to Armageddon","author":"Childress, D.H.","year":"2011"},{"key":"key\n\t\t\t\t2019031903263641800_ref16","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1093\/hmg\/ddt462","article-title":"Genome-wide association study of ancestry-specific TB risk in the South African Coloured population","volume":"23","author":"Chimusa","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref17","doi-asserted-by":"crossref","first-page":"5561","DOI":"10.1007\/s11033-011-1360-7","article-title":"Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population","volume":"39","author":"Bae","year":"2012","journal-title":"Mol. Biol. Rep."},{"key":"key\n\t\t\t\t2019031903263641800_ref18","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t2019031903263641800_ref19","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/ddu733","article-title":"Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies","volume":"24","author":"Dong","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref20","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref21","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1093\/nar\/gkr1257","article-title":"A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases","volume":"40","author":"Li","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t2019031903263641800_ref22","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003143","article-title":"Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies","volume":"9","author":"Li","year":"2013","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref23","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1056\/NEJMoa1002926","article-title":"Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia","volume":"363","author":"Musunuru","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"key\n\t\t\t\t2019031903263641800_ref24","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1038\/ng.653","article-title":"Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome","volume":"42","author":"Krawitz","year":"2010","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref25","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/ng.237","article-title":"Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs","volume":"40","author":"Korn","year":"2008","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref26","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/j.ajhg.2013.04.003","article-title":"Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders","volume":"92","author":"Nakajima","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref27","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from next-generation sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t2019031903263641800_ref28","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nmeth.1282","article-title":"Integrated network analysis platform for protein-protein interactions","volume":"6","author":"Wu","year":"2008","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t2019031903263641800_ref29","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/BF00291646","article-title":"Regional chromosome mapping of human collagen genes alpha 2 (I) and alpha 1 (I)(COLIA2 and COLIA1)","volume":"69","author":"Retief","year":"1985","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref30","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/S0021-9258(18)68560-6","article-title":"Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype","volume":"263","author":"Wenstrup","year":"1988","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t2019031903263641800_ref31","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/S0021-9258(17)45417-2","article-title":"Structure and chromosomal location of the human gene encoding cartilage matrix protein","volume":"265","author":"Jenkins","year":"1990","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t2019031903263641800_ref32","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1074\/jbc.272.14.9268","article-title":"Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily","volume":"272","author":"De\u00e1k","year":"1997","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t2019031903263641800_ref33","doi-asserted-by":"crossref","DOI":"10.1142\/S0219720012410089","article-title":"Derived SNP alleles are used more frequently than ancestral alleles as risk-associated variants in common human diseases","volume":"10","author":"Gorlova","year":"2012","journal-title":"J. Bioinform. Comput. Biol."},{"key":"key\n\t\t\t\t2019031903263641800_ref34","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1198\/004017008000000334","article-title":"Quality assessment for short oligonucleotide microarray data","volume":"50","author":"Brettschneider","year":"2008","journal-title":"Technometrics"},{"key":"key\n\t\t\t\t2019031903263641800_ref35","doi-asserted-by":"crossref","first-page":"R80","DOI":"10.1186\/gb-2004-5-10-r80","article-title":"Bioconductor: open software development for computational biology and bioinformatics","volume":"5","author":"Gentleman","year":"2004","journal-title":"Genome Biol."},{"key":"key\n\t\t\t\t2019031903263641800_ref36","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref37","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref38","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000505","article-title":"The impact of divergence time on the nature of population structure: an example from iceland","volume":"5","author":"Price","year":"2009","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref39","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005052","article-title":"A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations","volume":"11","author":"Chimusa","year":"2015","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref40","doi-asserted-by":"crossref","DOI":"10.1093\/database\/bat018","article-title":"MalaCards: an integrated compendium for diseases and their annotation","author":"Rappaport","year":"2013","journal-title":"Database"},{"key":"key\n\t\t\t\t2019031903263641800_ref41","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1471-2156-14-17","article-title":"A variance component based multi-marker association test using family and unrelated data","volume":"14","author":"Wang","year":"2013","journal-title":"BMC Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref42","first-page":"003","article-title":"Specification of generalized linear mixed models for family data using Markov chain Monte Carlo methods","volume":"S1","author":"Jamsen","year":"2012","journal-title":"J. Biomet. Biostat."},{"key":"key\n\t\t\t\t2019031903263641800_ref43","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t2019031903263641800_ref44","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/bioinformatics\/btx100","article-title":"BCFtools\/csq: haplotype-aware variant consequences","volume":"33","author":"Danecek","year":"2017","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t2019031903263641800_ref45","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng.2354","article-title":"Fast and accurate genotype imputation in genome-wide association studies through pre-phasing","volume":"44","author":"Howie","year":"2012","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref46","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/nrg777","article-title":"Patterns of linkage disequilibrium in the human genome","volume":"3","author":"Kristin","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t2019031903263641800_ref47","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1093\/biomet\/64.3.645","article-title":"Tests of equality of dependent correlation coefficients","volume":"64","author":"Choi","year":"1977","journal-title":"Biometrika"},{"key":"key\n\t\t\t\t2019031903263641800_ref48","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1101\/gr.076521.108","article-title":"Genome-wide nucleotide-level mammalian ancestor reconstruction","volume":"18","author":"Paten","year":"2008","journal-title":"Genome Res."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/7\/1053\/28073440\/ddy373.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,4]],"date-time":"2022-09-04T14:36:25Z","timestamp":1662302185000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/7\/1053\/5144604"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,25]]},"references-count":48,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2018,10,25]]},"published-print":{"date-parts":[[2019,4,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy373","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,4,1]]},"published":{"date-parts":[[2018,10,25]]}}}