Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo; Marinus J. Blok; Phillip Whiley; Marta Santamarina; Sara Gutierrez-Enriquez; Atocha Romero; Pilar Garre; Alexandra Becker; Lindsay Denise Smith; Giovanna De Vecchi; Rita D. Brandao; Demis Tserpelis; Melissa Brown; Ana Blanco; Sandra Bonache; Mireia Menendez; Claude Houdayer; Claudia Foglia; James D. Fackenthal; Diana Baralle; Barbara Wappenschmidt; Eduardo Diaz-Rubio; Trinidad Caldes; Logan Walker; Orland Diez; Ana Vega; Amanda B. Spurdle; Paolo Radice; Miguel De La Hoya

doi:10.1093/hmg/ddu075

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo, Marinus J. Blok, Phillip Whiley, Marta Santamarina, Sara Gutierrez-Enriquez, Atocha Romero, Pilar Garre, Alexandra Becker, Lindsay Denise Smith, Giovanna De Vecchi, Rita D. Brandao, Demis Tserpelis, Melissa Brown, Ana Blanco, Sandra Bonache, Mireia Menendez, Claude Houdayer, Claudia Foglia, James D. Fackenthal, Diana BaralleBarbara Wappenschmidt, Eduardo Diaz-Rubio, Trinidad Caldes, Logan Walker, Orland Diez, Ana Vega, Amanda B. Spurdle, Paolo Radice, Miguel De La Hoya

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	3666-3680
Journal	Human Molecular Genetics
Volume	23
Issue number	14
DOIs	https://doi.org/10.1093/hmg/ddu075
Publication status	Published - 15 Jul 2014

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10.1093/hmg/ddu075

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Colombo, M., Blok, M. J., Whiley, P., Santamarina, M., Gutierrez-Enriquez, S., Romero, A., Garre, P., Becker, A., Smith, L. D., De Vecchi, G., Brandao, R. D., Tserpelis, D., Brown, M., Blanco, A., Bonache, S., Menendez, M., Houdayer, C., Foglia, C., Fackenthal, J. D., ... De La Hoya, M. (2014). Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Human Molecular Genetics, 23(14), 3666-3680. https://doi.org/10.1093/hmg/ddu075

Colombo, Mara ; Blok, Marinus J. ; Whiley, Phillip ; Santamarina, Marta ; Gutierrez-Enriquez, Sara ; Romero, Atocha ; Garre, Pilar ; Becker, Alexandra ; Smith, Lindsay Denise ; De Vecchi, Giovanna ; Brandao, Rita D. ; Tserpelis, Demis ; Brown, Melissa ; Blanco, Ana ; Bonache, Sandra ; Menendez, Mireia ; Houdayer, Claude ; Foglia, Claudia ; Fackenthal, James D. ; Baralle, Diana ; Wappenschmidt, Barbara ; Diaz-Rubio, Eduardo ; Caldes, Trinidad ; Walker, Logan ; Diez, Orland ; Vega, Ana ; Spurdle, Amanda B. ; Radice, Paolo ; De La Hoya, Miguel. / Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. In: Human Molecular Genetics. 2014 ; Vol. 23, No. 14. pp. 3666-3680.

@article{de79137e495b47809e07076158fc3536,

title = "Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium",

author = "Mara Colombo and Blok, {Marinus J.} and Phillip Whiley and Marta Santamarina and Sara Gutierrez-Enriquez and Atocha Romero and Pilar Garre and Alexandra Becker and Smith, {Lindsay Denise} and {De Vecchi}, Giovanna and Brandao, {Rita D.} and Demis Tserpelis and Melissa Brown and Ana Blanco and Sandra Bonache and Mireia Menendez and Claude Houdayer and Claudia Foglia and Fackenthal, {James D.} and Diana Baralle and Barbara Wappenschmidt and Eduardo Diaz-Rubio and Trinidad Caldes and Logan Walker and Orland Diez and Ana Vega and Spurdle, {Amanda B.} and Paolo Radice and {De La Hoya}, Miguel",

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Colombo, M, Blok, MJ, Whiley, P, Santamarina, M, Gutierrez-Enriquez, S, Romero, A, Garre, P, Becker, A, Smith, LD, De Vecchi, G, Brandao, RD, Tserpelis, D, Brown, M, Blanco, A, Bonache, S, Menendez, M, Houdayer, C, Foglia, C, Fackenthal, JD, Baralle, D, Wappenschmidt, B, Diaz-Rubio, E, Caldes, T, Walker, L, Diez, O, Vega, A, Spurdle, AB, Radice, P & De La Hoya, M 2014, 'Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium', Human Molecular Genetics, vol. 23, no. 14, pp. 3666-3680. https://doi.org/10.1093/hmg/ddu075

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. / Colombo, Mara; Blok, Marinus J.; Whiley, Phillip; Santamarina, Marta; Gutierrez-Enriquez, Sara; Romero, Atocha; Garre, Pilar; Becker, Alexandra; Smith, Lindsay Denise; De Vecchi, Giovanna; Brandao, Rita D.; Tserpelis, Demis; Brown, Melissa; Blanco, Ana; Bonache, Sandra; Menendez, Mireia; Houdayer, Claude; Foglia, Claudia; Fackenthal, James D.; Baralle, Diana; Wappenschmidt, Barbara; Diaz-Rubio, Eduardo; Caldes, Trinidad; Walker, Logan; Diez, Orland; Vega, Ana; Spurdle, Amanda B.; Radice, Paolo; De La Hoya, Miguel.

In: Human Molecular Genetics, Vol. 23, No. 14, 15.07.2014, p. 3666-3680.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

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AU - Colombo, Mara

AU - Blok, Marinus J.

AU - Whiley, Phillip

AU - Santamarina, Marta

AU - Gutierrez-Enriquez, Sara

AU - Romero, Atocha

AU - Garre, Pilar

AU - Becker, Alexandra

AU - Smith, Lindsay Denise

AU - De Vecchi, Giovanna

AU - Brandao, Rita D.

AU - Tserpelis, Demis

AU - Brown, Melissa

AU - Blanco, Ana

AU - Bonache, Sandra

AU - Menendez, Mireia

AU - Houdayer, Claude

AU - Foglia, Claudia

AU - Fackenthal, James D.

AU - Baralle, Diana

AU - Wappenschmidt, Barbara

AU - Diaz-Rubio, Eduardo

AU - Caldes, Trinidad

AU - Walker, Logan

AU - Diez, Orland

AU - Vega, Ana

AU - Spurdle, Amanda B.

AU - Radice, Paolo

AU - De La Hoya, Miguel

PY - 2014/7/15

Y1 - 2014/7/15

U2 - 10.1093/hmg/ddu075

DO - 10.1093/hmg/ddu075

M3 - Article

VL - 23

SP - 3666

EP - 3680

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

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