{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:24:21Z","timestamp":1791300261685,"version":"4.1.0"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mol. Genet."],"published-print":{"date-parts":[[2016,6,1]]},"DOI":"10.1093\/hmg\/ddw094","type":"journal-article","created":{"date-parts":[[2016,3,24]],"date-time":"2016-03-24T00:17:57Z","timestamp":1458778677000},"page":"2256-2268","source":"Crossref","is-referenced-by-count":95,"title":["Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms"],"prefix":"10.1093","volume":"25","author":[{"given":"Miguel","family":"de la Hoya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Soukarieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"L\u00f3pez-Perolio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Vega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Logan C.","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvette","family":"van Ierland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Baralle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Santamari\u00f1a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Lattimore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juul","family":"Wijnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Whiley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Raponi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Hauke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Wappenschmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas V. O.","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Behar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KConFaB","family":"Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diether","family":"Niederacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Dworniczak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Steinemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Faust","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Rubinstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Hulick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Houdayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine M.","family":"Caputo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Castera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Pesaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Chao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Brewer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa C.","family":"Southey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christi J.","family":"van Asperen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian F.","family":"Singer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Poplawski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phuong","family":"Mai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Peto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nichola","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Burwinkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Surowy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stig E.","family":"Bojesen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Flyger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annika","family":"Lindblom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Margolin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Chang-Claude","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Rudolph","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Radice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Galastri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet E.","family":"Olson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Hallberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham G.","family":"Giles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger L.","family":"Milne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene L.","family":"Andrulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gord","family":"Glendon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamila","family":"Czene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Blows","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitul","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe","family":"Dennis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyriaki","family":"Michailidou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"McGuffog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjeet K.","family":"Bolla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonis C.","family":"Antoniou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas F.","family":"Easton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Tavtigian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaike P.","family":"Vreeswijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Parsons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huong D.","family":"Meeks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Martins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David E.","family":"Goldgar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda B.","family":"Spurdle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,3,23]]},"reference":[{"key":"2016102423522470000_25.11.2256.1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/ng.2854","article-title":"Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database","volume":"46","author":"Thompson","year":"2014","journal-title":"Nat. Genet"},{"key":"2016102423522470000_25.11.2256.2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12560"},{"key":"2016102423522470000_25.11.2256.3","doi-asserted-by":"crossref","first-page":"495.","DOI":"10.1002\/humu.9379","article-title":"Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families","volume":"26","author":"Tesoriero","year":"2005","journal-title":"Hum. Mutat"},{"key":"2016102423522470000_25.11.2256.4","first-page":"341","article-title":"Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clin.","volume":"60","author":"Whiley","year":"2014","journal-title":"Chem"},{"key":"2016102423522470000_25.11.2256.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22388"},{"key":"2016102423522470000_25.11.2256.6","doi-asserted-by":"publisher","DOI":"10.1086\/375033"},{"key":"2016102423522470000_25.11.2256.7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu075"},{"key":"2016102423522470000_25.11.2256.8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0037255"},{"key":"2016102423522470000_25.11.2256.9","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.40"},{"key":"2016102423522470000_25.11.2256.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2004.10.045"},{"key":"2016102423522470000_25.11.2256.11","doi-asserted-by":"crossref","unstructured":"Clark S.L. Rodriguez A.M. Snyder R.R. Hankins G.D. Boehning D. (2012) Structure-function of the tumor suppressor BRCA1 . Comput. Struct. Biotechnol. J., 1, pii: e201204005.","DOI":"10.5936\/csbj.201204005"},{"key":"2016102423522470000_25.11.2256.12","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.115.175802"},{"key":"2016102423522470000_25.11.2256.13","doi-asserted-by":"publisher","DOI":"10.1126\/science.1209909"},{"key":"2016102423522470000_25.11.2256.14","doi-asserted-by":"publisher","DOI":"10.1111\/febs.13150"},{"key":"2016102423522470000_25.11.2256.15","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2009.132274"},{"key":"2016102423522470000_25.11.2256.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2006.07.004"},{"key":"2016102423522470000_25.11.2256.17","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2016102423522470000_25.11.2256.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2563"},{"key":"2016102423522470000_25.11.2256.19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003212"},{"key":"2016102423522470000_25.11.2256.20","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21628"},{"key":"2016102423522470000_25.11.2256.21","doi-asserted-by":"publisher","DOI":"10.1086\/424388"},{"key":"2016102423522470000_25.11.2256.22","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20897"},{"key":"2016102423522470000_25.11.2256.23","doi-asserted-by":"publisher","DOI":"10.1086\/378100"},{"key":"2016102423522470000_25.11.2256.24","doi-asserted-by":"publisher","DOI":"10.1186\/s13058-014-0474-y"},{"key":"2016102423522470000_25.11.2256.25","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1785"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/25\/11\/2256\/18526820\/ddw094.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T12:48:17Z","timestamp":1503578897000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddw094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,23]]},"references-count":25,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2016,10,24]]},"published-print":{"date-parts":[[2016,6,1]]}},"alternative-id":["10.1093\/hmg\/ddw094"],"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddw094","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,23]]}}}