{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:42:04Z","timestamp":1788356524282,"version":"build-2803163510"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,3,13]],"date-time":"2017-03-13T00:00:00Z","timestamp":1489363200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1038\/ng.3815","type":"journal-article","created":{"date-parts":[[2017,3,13]],"date-time":"2017-03-13T17:00:13Z","timestamp":1489424413000},"page":"613-617","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations"],"prefix":"10.1038","volume":"49","author":[{"given":"Xia","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wu-Lin","family":"Charng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-An","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"Al Shamsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"McGuire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas Ah","family":"Mew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgianne L","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunjing","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M","family":"Muzny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Walkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon E","family":"Plon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2148-7490","authenticated-orcid":false,"given":"Christian P","family":"Schaaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,3,13]]},"reference":[{"key":"BFng3815_CR1","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1038\/300765a0","volume":"300","author":"A de Klein","year":"1982","unstructured":"de Klein, A. et al. A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 300, 765\u2013767 (1982).","journal-title":"Nature"},{"key":"BFng3815_CR2","doi-asserted-by":"publisher","first-page":"5505","DOI":"10.1182\/blood-2007-10-114900","volume":"111","author":"SM Pye","year":"2008","unstructured":"Pye, S.M. et al. The effects of imatinib on pregnancy outcome. Blood 111, 5505\u20135508 (2008).","journal-title":"Blood"},{"key":"BFng3815_CR3","doi-asserted-by":"publisher","first-page":"1050","DOI":"10.6004\/jnccn.2009.0069","volume":"7","author":"J Apperley","year":"2009","unstructured":"Apperley, J. Issues of imatinib and pregnancy outcome. J. Natl. Compr. Canc. Netw. 7, 1050\u20131058 (2009).","journal-title":"J. Natl. Compr. Canc. Netw."},{"key":"BFng3815_CR4","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1159\/000381806","volume":"24","author":"N Jain","year":"2015","unstructured":"Jain, N., Sharma, D., Agrawal, R. & Jain, A. A newborn with teratogenic effect of imatinib mesylate: a very rare case report. Med. Princ. Pract. 24, 291\u2013293 (2015).","journal-title":"Med. Princ. Pract."},{"key":"BFng3815_CR5","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1200\/JCO.2005.04.6557","volume":"24","author":"P Ault","year":"2006","unstructured":"Ault, P. et al. Pregnancy among patients with chronic myeloid leukemia treated with imatinib. J. Clin. Oncol. 24, 1204\u20131208 (2006).","journal-title":"J. Clin. Oncol."},{"key":"BFng3815_CR6","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1038\/73542","volume":"24","author":"B Li","year":"2000","unstructured":"Li, B. et al. Mice deficient in Abl are osteoporotic and have defects in osteoblast maturation. Nat. Genet. 24, 304\u2013308 (2000).","journal-title":"Nat. Genet."},{"key":"BFng3815_CR7","doi-asserted-by":"publisher","first-page":"1136","DOI":"10.1073\/pnas.0913131107","volume":"107","author":"Z Qiu","year":"2010","unstructured":"Qiu, Z., Cang, Y. & Goff, S.P. c-Abl tyrosine kinase regulates cardiac growth and development. Proc. Natl. Acad. Sci. USA 107, 1136\u20131141 (2010).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng3815_CR8","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1038\/ng772","volume":"29","author":"M Tartaglia","year":"2001","unstructured":"Tartaglia, M. et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29, 465\u2013468 (2001).","journal-title":"Nat. Genet."},{"key":"BFng3815_CR9","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/nature12396","volume":"499","author":"W Yang","year":"2013","unstructured":"Yang, W. et al. Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. Nature 499, 491\u2013495 (2013).","journal-title":"Nature"},{"key":"BFng3815_CR10","doi-asserted-by":"publisher","first-page":"1940","DOI":"10.1056\/NEJMc1109381","volume":"365","author":"C Hafner","year":"2011","unstructured":"Hafner, C., Toll, A. & Real, F.X. HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. N. Engl. J. Med. 365, 1940\u20131942 (2011).","journal-title":"N. Engl. J. Med."},{"key":"BFng3815_CR11","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1038\/ng1641","volume":"37","author":"Y Aoki","year":"2005","unstructured":"Aoki, Y. et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat. Genet. 37, 1038\u20131040 (2005).","journal-title":"Nat. Genet."},{"key":"BFng3815_CR12","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/nrg2707","volume":"11","author":"P Lahiry","year":"2010","unstructured":"Lahiry, P., Torkamani, A., Schork, N.J. & Hegele, R.A. Kinase mutations in human disease: interpreting genotype\u2013phenotype relationships. Nat. Rev. Genet. 11, 60\u201374 (2010).","journal-title":"Nat. Rev. Genet."},{"key":"BFng3815_CR13","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","volume":"369","author":"Y Yang","year":"2013","unstructured":"Yang, Y. et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369, 1502\u20131511 (2013).","journal-title":"N. Engl. J. Med."},{"key":"BFng3815_CR14","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1001\/jama.2014.14601","volume":"312","author":"Y Yang","year":"2014","unstructured":"Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. J. Am. Med. Assoc. 312, 1870\u20131879 (2014).","journal-title":"J. Am. Med. Assoc."},{"key":"BFng3815_CR15","doi-asserted-by":"publisher","first-page":"35631","DOI":"10.1074\/jbc.M005401200","volume":"275","author":"BB Brasher","year":"2000","unstructured":"Brasher, B.B. & Van Etten, R.A. c-Abl has high intrinsic tyrosine kinase activity that is stimulated by mutation of the Src homology 3 domain and by autophosphorylation at two distinct regulatory tyrosines. J. Biol. Chem. 275, 35631\u201335637 (2000).","journal-title":"J. Biol. Chem."},{"key":"BFng3815_CR16","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1016\/S0092-8674(03)00191-0","volume":"112","author":"O Hantschel","year":"2003","unstructured":"Hantschel, O. et al. A myristoyl\/phosphotyrosine switch regulates c-Abl. Cell 112, 845\u2013857 (2003).","journal-title":"Cell"},{"key":"BFng3815_CR17","first-page":"2669","volume":"12","author":"JD Hardin","year":"1996","unstructured":"Hardin, J.D., Boast, S., Mendelsohn, M., de los Santos, K. & Goff, S.P. Transgenes encoding both type I and type IV c-abl proteins rescue the lethality of c-abl mutant mice. Oncogene 12, 2669\u20132677 (1996).","journal-title":"Oncogene"},{"key":"BFng3815_CR18","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1016\/S0092-8674(03)00194-6","volume":"112","author":"B Nagar","year":"2003","unstructured":"Nagar, B. et al. Structural basis for the autoinhibition of c-Abl tyrosine kinase. Cell 112, 859\u2013871 (2003).","journal-title":"Cell"},{"key":"BFng3815_CR19","doi-asserted-by":"publisher","first-page":"2714","DOI":"10.1002\/elps.1150181505","volume":"18","author":"N Guex","year":"1997","unstructured":"Guex, N. & Peitsch, M.C. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 18, 2714\u20132723 (1997).","journal-title":"Electrophoresis"},{"key":"BFng3815_CR20","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar, P., Henikoff, S. & Ng, P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073\u20131081 (2009).","journal-title":"Nat. Protoc."},{"key":"BFng3815_CR21","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248\u2013249 (2010).","journal-title":"Nat. Methods"},{"key":"BFng3815_CR22","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz, J.M., Cooper, D.N., Schuelke, M. & Seelow, D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat. Methods 11, 361\u2013362 (2014).","journal-title":"Nat. Methods"},{"key":"BFng3815_CR23","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li, H. & Durbin, R. Fast and accurate long-read alignment with Burrows\u2013Wheeler transform. Bioinformatics 26, 589\u2013595 (2010).","journal-title":"Bioinformatics"},{"key":"BFng3815_CR24","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1101\/gr.096388.109","volume":"20","author":"Y Shen","year":"2010","unstructured":"Shen, Y. et al. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res. 20, 273\u2013280 (2010).","journal-title":"Genome Res."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng.3815.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.3815","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.3815.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:20:19Z","timestamp":1684444819000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.3815"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,13]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["BFng3815"],"URL":"https:\/\/doi.org\/10.1038\/ng.3815","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,13]]},"assertion":[{"value":"15 September 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 February 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 March 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"J.R.L. is a paid consultant for Regeneron Pharmaceuticals, holds stock ownership in 23andMe and Lasergen, Inc., is on the scientific advisory board of Baylor Genetics, and is a co-inventor on US and European patents related to molecular diagnostics. S.E.P. is on the scientific advisory board of Baylor Genetics. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from molecular genetic testing offered at Baylor Genetics.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}