{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T07:28:07Z","timestamp":1792654087477,"version":"4.5.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"3-4","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mamm Genome"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1007\/s00335-013-9494-7","type":"journal-article","created":{"date-parts":[[2013,12,4]],"date-time":"2013-12-04T07:06:22Z","timestamp":1386140782000},"page":"120-128","source":"Crossref","is-referenced-by-count":16,"title":["Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis"],"prefix":"10.1007","volume":"25","author":[{"given":"Rama Rao","family":"Damerla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bishwanath","family":"Chatterjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J. B.","family":"Francis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarosh N.","family":"Fatakia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia W.","family":"Lo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,12,5]]},"reference":[{"key":"9494_CR1","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1534\/genetics.110.124586","volume":"187","author":"CN Arnold","year":"2011","unstructured":"Arnold CN, Xia Y, Lin P, Ross C, Schwander M, Smart NG, Muller U, Beutler B (2011) Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis. Genetics 187:633\u2013641","journal-title":"Genetics"},{"key":"9494_CR2","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1093\/genetics\/118.2.299","volume":"118","author":"VC Bode","year":"1988","unstructured":"Bode VC, McDonald JD, Guenet JL, Simon D (1988) hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. Genetics 118:299\u2013305","journal-title":"Genetics"},{"key":"9494_CR3","doi-asserted-by":"crossref","first-page":"e1003219","DOI":"10.1371\/journal.pgen.1003219","volume":"9","author":"KR Bull","year":"2013","unstructured":"Bull KR, Rimmer AJ, Siggs OM, Miosge LA, Roots CM, Enders A, Bertram EM, Crockford TL, Whittle B, Potter PK, Simon MM, Mallon AM, Brown SD, Beutler B, Goodnow CC, Lunter G, Cornall RJ (2013) Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations. PLoS Genet 9:e1003219","journal-title":"PLoS Genet"},{"key":"9494_CR4","doi-asserted-by":"crossref","first-page":"e55429","DOI":"10.1371\/journal.pone.0055429","volume":"8","author":"G Caruana","year":"2013","unstructured":"Caruana G, Farlie PG, Hart AH, Bagheri-Fam S, Wallace MJ, Dobbie MS, Gordon CT, Miller KA, Whittle B, Abud HE, Arkell RM, Cole TJ, Harley VR, Smyth IM, Bertram JF (2013) Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. PLoS One 8:e55429","journal-title":"PLoS One"},{"key":"9494_CR5","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.jmoldx.2012.06.003","volume":"14","author":"M Chan","year":"2012","unstructured":"Chan M, Ji SM, Yeo ZX, Gan L, Yap E, Yap YS, Ng R, Tan PH, Ho GH, Ang P, Lee AS (2012) Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform. J Mol Diagn 14:602\u2013612","journal-title":"J Mol Diagn"},{"key":"9494_CR6","doi-asserted-by":"crossref","first-page":"3831","DOI":"10.1128\/JCM.01893-12","volume":"50","author":"LT Daum","year":"2012","unstructured":"Daum LT, Rodriguez JD, Worthy SA, Ismail NA, Omar SV, Dreyer AW, Fourie PB, Hoosen AA, Chambers JP, Fischer GW (2012) Next-generation ion torrent sequencing of drug resistance mutations in Mycobacterium tuberculosis strains. J Clin Microbiol 50:3831\u20133837","journal-title":"J Clin Microbiol"},{"key":"9494_CR7","unstructured":"Damerla R, Cui C, Gabriel G, Liu X, Gibbs B, Francis R, LI Y, Chatterjee B, Michaud J, Pazour G, Lo C (2013) Abstract#3162W, Mutation in the mouse homolog of C5ORF42 disrupts ciliogenesis and causes cerebellar defects and other Joubert Syndrome phenotypes associated with the disruption of Shh signaling. In: 63rd Annual meeting of the American Society of Human Genetics, Boston, 23 Oct 2013"},{"key":"9494_CR8","doi-asserted-by":"crossref","first-page":"H2102","DOI":"10.1152\/ajpheart.01118.2011","volume":"302","author":"RJ Francis","year":"2012","unstructured":"Francis RJ, Christopher A, Devine WA, Ostrowski L, Lo C (2012) Congenital heart disease and the specification of left\u2013right asymmetry. Am J Physiol Heart Circ Physiol 302:H2102\u2013H2111","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"9494_CR9","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s10709-004-1442-8","volume":"122","author":"JL Guenet","year":"2004","unstructured":"Guenet JL (2004) Chemical mutagenesis of the mouse genome: an overview. Genetica 122:9\u201324","journal-title":"Genetica"},{"key":"9494_CR10","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/319511","volume":"68","author":"C Guichard","year":"2001","unstructured":"Guichard C, Harricane MC, Lafitte JJ, Godard P, Zaegel M, Tack V, Lalau G, Bouvagnet P (2001) Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet 68:1030\u20131035","journal-title":"Am J Hum Genet"},{"key":"9494_CR11","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1101\/gr.146936.112","volume":"23","author":"JT Hill","year":"2013","unstructured":"Hill JT, Demarest BL, Bisgrove BW, Gorsi B, Su YC, Yost HJ (2013) MMAPPR: mutation mapping analysis pipeline for pooled RNA-seq. Genome Res 23:687\u2013697","journal-title":"Genome Res"},{"key":"9494_CR12","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/35056009","volume":"2","author":"JH Nadeau","year":"2001","unstructured":"Nadeau JH (2001) Modifier genes in mice and humans. Nat Rev Genet 2:165\u2013174","journal-title":"Nat Rev Genet"},{"key":"9494_CR13","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s003359900706","volume":"9","author":"IM Neuhaus","year":"1998","unstructured":"Neuhaus IM, Beier DR (1998) Efficient localization of mutations by interval haplotype analysis. Mamm Genome 9:150\u2013154","journal-title":"Mamm Genome"},{"key":"9494_CR14","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1165\/rcmb.2009-0118OC","volume":"43","author":"LE Ostrowski","year":"2010","unstructured":"Ostrowski LE, Yin W, Rogers TD, Busalacchi KB, Chua M, O\u2019Neal WK, Grubb BR (2010) Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am J Respir Cell Mol Biol 43:55\u201363","journal-title":"Am J Respir Cell Mol Biol"},{"key":"9494_CR15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.2010.082552","volume":"48","author":"EA Otto","year":"2011","unstructured":"Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F (2011) Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 48:105\u2013116","journal-title":"J Med Genet"},{"key":"9494_CR16","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1086\/302683","volume":"65","author":"G Pennarun","year":"1999","unstructured":"Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B (1999) Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet 65:1508\u20131519","journal-title":"Am J Hum Genet"},{"key":"9494_CR17","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1152\/physiolgenomics.00129.2005","volume":"24","author":"Y Shen","year":"2005","unstructured":"Shen Y, Leatherbury L, Rosenthal J, Yu Q, Pappas MA, Wessels A, Lucas J, Siegfried B, Chatterjee B, Svenson K, Lo CW (2005) Cardiovascular phenotyping of fetal mice by noninvasive high-frequency ultrasound facilitates recovery of ENU-induced mutations causing congenital cardiac and extracardiac defects. Physiol Genomics 24:23\u201336","journal-title":"Physiol Genomics"},{"key":"9494_CR18","doi-asserted-by":"crossref","first-page":"8676","DOI":"10.1073\/pnas.1206614109","volume":"109","author":"C Wang","year":"2012","unstructured":"Wang C, Krishnakumar S, Wilhelmy J, Babrzadeh F, Stepanyan L, Su LF, Levinson D, Fernandez-Vina MA, Davis RW, Davis MM, Mindrinos M (2012) High-throughput, high-fidelity HLA genotyping with deep sequencing. Proc Natl Acad Sci USA 109:8676\u20138681","journal-title":"Proc Natl Acad Sci USA"},{"key":"9494_CR19","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1534\/genetics.110.121160","volume":"186","author":"Y Xia","year":"2010","unstructured":"Xia Y, Won S, Du X, Lin P, Ross C, La Vine D, Wiltshire S, Leiva G, Vidal SM, Whittle B, Goodnow CC, Koziol J, Moresco EM, Beutler B (2010) Bulk segregation mapping of mutations in closely related strains of mice. Genetics 186:1139\u20131146","journal-title":"Genetics"},{"key":"9494_CR20","doi-asserted-by":"crossref","first-page":"6211","DOI":"10.1242\/dev.01543","volume":"131","author":"Q Yu","year":"2004","unstructured":"Yu Q, Shen Y, Chatterjee B, Siegfried BH, Leatherbury L, Rosenthal J, Lucas JF, Wessels A, Spurney CF, Wu YJ, Kirby ML, Svenson K, Lo CW (2004) ENU induced mutations causing congenital cardiovascular anomalies. Development 131:6211\u20136223","journal-title":"Development"},{"key":"9494_CR21","doi-asserted-by":"crossref","first-page":"3219","DOI":"10.1073\/pnas.0813400106","volume":"106","author":"Z Zhang","year":"2009","unstructured":"Zhang Z, Alpert D, Francis R, Chatterjee B, Yu Q, Tansey T, Sabol SL, Cui C, Bai Y, Koriabine M, Yoshinaga Y, Cheng JF, Chen F, Martin J, Schackwitz W, Gunn TM, Kramer KL, De Jong PJ, Pennacchio LA, Lo CW (2009) Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Proc Natl Acad Sci USA 106:3219\u20133224","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Mammalian Genome"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00335-013-9494-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00335-013-9494-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00335-013-9494-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T16:16:16Z","timestamp":1647620176000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00335-013-9494-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,5]]},"references-count":21,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["9494"],"URL":"https:\/\/doi.org\/10.1007\/s00335-013-9494-7","relation":{},"ISSN":["0938-8990","1432-1777"],"issn-type":[{"value":"0938-8990","type":"print"},{"value":"1432-1777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,5]]}}}