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Author/Creator Thomassen, Mads

2. Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants. Issue 11 (31st August 2021)

Authors:
Ruiz de Garibay, Gorka; Fernandez‐Garcia, Ignacio; Mazoyer, Sylvie; Leme de Calais, Flavia; Ameri, Pietro; Vijayakumar, Sangeetha; Martinez‐Ruiz, Haydeliz; Damiola, Francesca; Barjhoux, Laure; Thomassen, Mads; Andersen, Lars v. B.; Herranz, Carmen; Mateo, Francesca; Palomero, Luis; Espín, Roderic...
Journal:
Human mutation
Issue:
Volume 42:Issue 11(2021)
Page Start:
1488
Record Type:
Journal Article
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3. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Issue 1 (December 2015)

Authors:
Blein, Sophie; Bardel, Claire; Danjean, Vincent; McGuffog, Lesley; Healey, Sue; Barrowdale, Daniel; Lee, Andrew; Dennis, Joe; Kuchenbaecker, Karoline; Soucy, Penny; Terry, Mary; Chung, Wendy; Goldgar, David; Buys, Saundra; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia; v...
Journal:
Breast cancer research
Issue:
Volume 17:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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4. Aquaporin-4 IgG autoimmune syndrome and immunoreactivity associated with thyroid cancer. Issue 4 (August 2016)

Authors:
Soelberg, Kerstin; Larsen, Stine R.; Moerch, Marlene T.; Thomassen, Mads; Brusgaard, Klaus; Paul, Friedemannn; Smith, Terry J.; Godballe, Christian; Grauslund, Jakob; Lillevang, Soeren T.; Asgari, Nasrin
Journal:
Neurology
Issue:
Volume 3:Issue 4(2016)
Page Start:
Record Type:
Journal Article
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5. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Issue 8 (12th August 2012)

Authors:
Spurdle, Amanda B; Whiley, Phillip J; Thompson, Bryony; Feng, Bingjian; Healey, Sue; Brown, Melissa A; Pettigrew, Christopher; Van Asperen, Christi J; Ausems, Margreet G E M; Kattentidt-Mouravieva, Anna A; van den Ouweland, Ans M W; Belgium UV Consortium, Dutch; Lindblom, Annika; Pigg, Maritta H;...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 8(2012)
Page Start:
525
Record Type:
Journal Article
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6. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. (28th July 2021)

Authors:
Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; ...
Journal:
Journal of the National Cancer Institute
Issue:
Volume 114:Number 1(2022)
Page Start:
109
Record Type:
Journal Article
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7. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Issue 14 (10th May 2022)

Authors:
Li, Shuai; Silvestri, Valentina; Leslie, Goska; Rebbeck, Timothy R.; Neuhausen, Susan L.; Hopper, John L.; Nielsen, Henriette Roed; Lee, Andrew; Yang, Xin; McGuffog, Lesley; Parsons, Michael T.; Andrulis, Irene L.; Arnold, Norbert; Belotti, Muriel; Borg, Åke; Buecher, Bruno; Buys, Saundra S.; Cap...
Journal:
Journal of clinical oncology
Issue:
Volume 40:Issue 14(2022)
Page Start:
1529
Record Type:
Journal Article
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8. Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants. Issue 1 (28th October 2013)

Authors:
de, Gorka Ruiz; Acedo, Alberto; García‐Casado, Zaida; Gutiérrez‐Enríquez, Sara; Tosar, Alicia; Romero, Atocha; Garre, Pilar; Llort, Gemma; Thomassen, Mads; Díez, Orland; Pérez‐Segura, Pedro; Díaz‐Rubio, Eduardo; Velasco, Eladio A.; Caldés, Trinidad; de la, Miguel
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
53
Record Type:
Journal Article
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9. Clinical outcomes of female breast cancer according to BRCA mutation status. (August 2017)

Authors:
Cronin-Fenton, Deirdre P.; Kjærsgaard, Anders; Nørgaard, Mette; Pedersen, Inge Søkilde; Thomassen, Mads; Kaye, James A.; Gutierrez, Lia; Telford, Claire; Lewis, Jan; Tyczynski, Jerzy E.; Sørensen, Henrik Toft
Journal:
Cancer epidemiology
Issue:
Volume 49(2017:Aug.)
Page Start:
128
Record Type:
Journal Article
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10. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach. Issue 12 (23rd October 2022)

Authors:
Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban‐Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Møller, Pål; Borg, Åke; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christi...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1921
Record Type:
Journal Article
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