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

de la Hoya, Miguel; Soukarieh, Omar; Lopez-Perolio, Irene; Vega, Ana; Walker, Logan C.; van Ierland, Yvette; Baralle, Diana; Santamarina, Marta; Lattimore, Vanessa; Wijnen, Juul; Whiley, Philip; Blanco, Ana; Raponi, Michela; Hauke, Jan; Wappenschmidt, Barbara; Becker, Alexandra; Hansen, Thomas V. O.; Behar, Raquel; Niederacher, Diether; Arnold, Norbert; Dworniczak, Bernd; Steinemann, Doris; Faust, Ulrike; Rubinstein, Wendy; Hulick, Peter J.; Houdayer, Claude; Caputo, Sandrine M.; Castera, Laurent; Pesaran, Tina; Chao, Elizabeth; Brewer, Carole; Southey, Melissa C.; van Asperen, Christi J.; Singer, Christian F.; Sullivan, Jan; Poplawski, Nicola; Phuong Mai; Peto, Julian; Johnson, Nichola; Burwinkel, Barbara; Surowy, Harald; Bojesen, Stig E.; Flyger, Henrik; Lindblom, Annika; Margolin, Sara; Chang-Claude, Jenny; Rudolph, Anja; Radice, Paolo; Galastri, Laura; Olson, Janet E.; Hallberg, Emily; Giles, GrahamG.; Milne, Roger L.; Andrulis, Irene L.; Glendon, Gord; Hall, Per; Czene, Kamila; Blows, Fiona; Shah, Mitul; Wang, Qin; Dennis, Joe; Michailidou, Kyriaki; McGuffog, Lesley; Bolla, Manjeet K.; Antoniou, Antonis C.; Easton, Douglas F.; Couch, Fergus J.; Tavtigian, Sean; Vreeswijk, Maaike P.; Parsons, Michael; Meeks, Huong D.; Martins, Alexandra; Goldgar, David E.; Spurdle, Amanda B.

dc.contributor.author	Faust, Ulrike E. A.
dc.date.accessioned	2019-01-22T14:16:52Z
dc.date.available	2019-01-22T14:16:52Z
dc.date.issued	2016
dc.identifier.issn	1460-2083
dc.identifier.uri	http://hdl.handle.net/10900/85860
dc.language.iso	en	de_DE
dc.publisher	Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/hmg/ddw094	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.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	de_DE
dc.type	Article	de_DE
utue.quellen.id	20180405102126_02351
utue.publikation.seiten	2256-2268	de_DE
utue.personen.roh	de la Hoya, Miguel
utue.personen.roh	Soukarieh, Omar
utue.personen.roh	Lopez-Perolio, Irene
utue.personen.roh	Vega, Ana
utue.personen.roh	Walker, Logan C.
utue.personen.roh	van Ierland, Yvette
utue.personen.roh	Baralle, Diana
utue.personen.roh	Santamarina, Marta
utue.personen.roh	Lattimore, Vanessa
utue.personen.roh	Wijnen, Juul
utue.personen.roh	Whiley, Philip
utue.personen.roh	Blanco, Ana
utue.personen.roh	Raponi, Michela
utue.personen.roh	Hauke, Jan
utue.personen.roh	Wappenschmidt, Barbara
utue.personen.roh	Becker, Alexandra
utue.personen.roh	Hansen, Thomas V. O.
utue.personen.roh	Behar, Raquel
utue.personen.roh	Niederacher, Diether
utue.personen.roh	Arnold, Norbert
utue.personen.roh	Dworniczak, Bernd
utue.personen.roh	Steinemann, Doris
utue.personen.roh	Faust, Ulrike
utue.personen.roh	Rubinstein, Wendy
utue.personen.roh	Hulick, Peter J.
utue.personen.roh	Houdayer, Claude
utue.personen.roh	Caputo, Sandrine M.
utue.personen.roh	Castera, Laurent
utue.personen.roh	Pesaran, Tina
utue.personen.roh	Chao, Elizabeth
utue.personen.roh	Brewer, Carole
utue.personen.roh	Southey, Melissa C.
utue.personen.roh	van Asperen, Christi J.
utue.personen.roh	Singer, Christian F.
utue.personen.roh	Sullivan, Jan
utue.personen.roh	Poplawski, Nicola
utue.personen.roh	Phuong Mai
utue.personen.roh	Peto, Julian
utue.personen.roh	Johnson, Nichola
utue.personen.roh	Burwinkel, Barbara
utue.personen.roh	Surowy, Harald
utue.personen.roh	Bojesen, Stig E.
utue.personen.roh	Flyger, Henrik
utue.personen.roh	Lindblom, Annika
utue.personen.roh	Margolin, Sara
utue.personen.roh	Chang-Claude, Jenny
utue.personen.roh	Rudolph, Anja
utue.personen.roh	Radice, Paolo
utue.personen.roh	Galastri, Laura
utue.personen.roh	Olson, Janet E.
utue.personen.roh	Hallberg, Emily
utue.personen.roh	Giles, GrahamG.
utue.personen.roh	Milne, Roger L.
utue.personen.roh	Andrulis, Irene L.
utue.personen.roh	Glendon, Gord
utue.personen.roh	Hall, Per
utue.personen.roh	Czene, Kamila
utue.personen.roh	Blows, Fiona
utue.personen.roh	Shah, Mitul
utue.personen.roh	Wang, Qin
utue.personen.roh	Dennis, Joe
utue.personen.roh	Michailidou, Kyriaki
utue.personen.roh	McGuffog, Lesley
utue.personen.roh	Bolla, Manjeet K.
utue.personen.roh	Antoniou, Antonis C.
utue.personen.roh	Easton, Douglas F.
utue.personen.roh	Couch, Fergus J.
utue.personen.roh	Tavtigian, Sean
utue.personen.roh	Vreeswijk, Maaike P.
utue.personen.roh	Parsons, Michael
utue.personen.roh	Meeks, Huong D.
utue.personen.roh	Martins, Alexandra
utue.personen.roh	Goldgar, David E.
utue.personen.roh	Spurdle, Amanda B.
dcterms.isPartOf.ZSTitelID	Human Molecular Genetics	de_DE
dcterms.isPartOf.ZS-Issue	11	de_DE
dcterms.isPartOf.ZS-Volume	25	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE