Publications by authors named "Maria Rossing"

63Publications

A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family.

Blood Coagul Fibrinolysis 2020 Oct;31(7):481-484

Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden.

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http://dx.doi.org/10.1097/MBC.0000000000000951DOI Listing
October 2020

Induction of PIK3CA alterations during neoadjuvant letrozole may improve outcome in postmenopausal breast cancer patients.

Breast Cancer Res Treat 2020 Nov 3;184(1):123-133. Epub 2020 Aug 3.

Department of Surgical Pathology, Zealand University Hospital, Roskilde, Denmark.

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http://dx.doi.org/10.1007/s10549-020-05833-wDOI Listing
November 2020

Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.

Endocr Connect 2020 Aug;9(8):793-803

Department of Medical Endocrinology and Metabolism, Copenhagen University Hospital, Rigshospitalet, and Faculty of Health, Institute of Clinical and Scientific Research, Copenhagen, Denmark.

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http://dx.doi.org/10.1530/EC-20-0279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487185PMC
August 2020

A novel homozygous variant in 2 sisters with thrombocytopenia and severe bleeding tendency.

Platelets 2020 Jul 7:1-4. Epub 2020 Jul 7.

Department of Hematology, Copenhagen University Hospital , Rigshospitalet, Denmark.

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http://dx.doi.org/10.1080/09537104.2020.1786041DOI Listing
July 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Valentina Silvestri Goska Leslie Daniel R Barnes Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Rosa B Barkardottir Alicia Barroso Daniel Barrowdale Javier Benitez Bernardo Bonanni Ake Borg Saundra S Buys Trinidad Caldés Maria A Caligo Carlo Capalbo Ian Campbell Wendy K Chung Kathleen B M Claes Sarah V Colonna Laura Cortesi Fergus J Couch Miguel de la Hoya Orland Diez Yuan Chun Ding Susan Domchek Douglas F Easton Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalò Lenka Foretova Florentia Fostira Lajos Géczi Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Eric Hahnen Frans B L Hogervorst John L Hopper Peter J Hulick Claudine Isaacs Angel Izquierdo Paul A James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Irene Konstantopoulou Allison W Kurian Ava Kwong Elisabetta Landucci Fabienne Lesueur Jennifer T Loud Eva Machackova Phuong L Mai Keivan Majidzadeh-A Siranoush Manoukian Marco Montagna Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Heli Nevanlinna Joanne Ngeow Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Ana Osorio Laura Papi Sue K Park Inge Sokilde Pedersen Pedro Perez-Segura Annabeth H Petersen Pedro Pinto Berardino Porfirio Miquel Angel Pujana Paolo Radice Johanna Rantala Muhammad U Rashid Barak Rosenzweig Maria Rossing Marta Santamariña Rita K Schmutzler Leigha Senter Jacques Simard Christian F Singer Angela R Solano Melissa C Southey Linda Steele Zoe Steinsnyder Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Soo H Teo Mary Beth Terry Mads Thomassen Amanda E Toland Sara Torres-Esquius Nadine Tung Christi J van Asperen Ana Vega Alessandra Viel Jeroen Vierstraete Barbara Wappenschmidt Jeffrey N Weitzel Greet Wieme Sook-Yee Yoon Kristin K Zorn Lesley McGuffog Michael T Parsons Ute Hamann Mark H Greene Judy A Kirk Susan L Neuhausen Timothy R Rebbeck Marc Tischkowitz Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman Laura Ottini

JAMA Oncol 2020 Aug;6(8):1218-1230

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1001/jamaoncol.2020.2134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333177PMC
August 2020

Highly impaired platelet ultrastructure in two families with novel variants.

Platelets 2020 May 18:1-6. Epub 2020 May 18.

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1080/09537104.2020.1764921DOI Listing
May 2020

Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia.

Front Endocrinol (Lausanne) 2020 24;11:146. Epub 2020 Mar 24.

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.3389/fendo.2020.00146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105679PMC
March 2020

Elevated miR-9 in Cerebrospinal Fluid Is Associated with Poor Functional Outcome After Subarachnoid Hemorrhage.

Transl Stroke Res 2020 Dec 4;11(6):1243-1252. Epub 2020 Apr 4.

Department of Neuroanaesthesiology, The Neuroscience Centre, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s12975-020-00793-1DOI Listing
December 2020

Genetic screening of children with suspected inherited bleeding disorders.

Haemophilia 2020 Mar 26;26(2):314-324. Epub 2020 Feb 26.

Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö, Sweden.

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http://dx.doi.org/10.1111/hae.13948DOI Listing
March 2020

The Spectrum of Protein Truncating Variants in European Breast Cancer Cases.

Cancers (Basel) 2020 01 26;12(2). Epub 2020 Jan 26.

Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy.

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http://dx.doi.org/10.3390/cancers12020292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073216PMC
January 2020

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Authors:
Laura Fachal Hugues Aschard Jonathan Beesley Daniel R Barnes Jamie Allen Siddhartha Kar Karen A Pooley Joe Dennis Kyriaki Michailidou Constance Turman Penny Soucy Audrey Lemaçon Michael Lush Jonathan P Tyrer Maya Ghoussaini Mahdi Moradi Marjaneh Xia Jiang Simona Agata Kristiina Aittomäki M Rosario Alonso Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Bernd Auber Paul L Auer Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Katarzyna Białkowska Amie M Blanco Carl Blomqvist William Blot Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Ake Borg Kristin Bosse Hiltrud Brauch Hermann Brenner Ignacio Briceno Ian W Brock Angela Brooks-Wilson Thomas Brüning Barbara Burwinkel Saundra S Buys Qiuyin Cai Trinidad Caldés Maria A Caligo Nicola J Camp Ian Campbell Federico Canzian Jason S Carroll Brian D Carter Jose E Castelao Jocelyne Chiquette Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke J Margriet Collée Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Peter Devilee Orland Diez Yuan Chun Ding Gillian S Dite Susan M Domchek Thilo Dörk Isabel Dos-Santos-Silva Arnaud Droit Stéphane Dubois Martine Dumont Mercedes Duran Lorraine Durcan Miriam Dwek Diana M Eccles Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Olivia Fletcher Giuseppe Floris Henrik Flyger Lenka Foretova William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Manuela Gago-Dominguez Gaetana Gambino Patricia A Ganz Susan M Gapstur Judy Garber José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Maria Grazia Tibiletti Mark H Greene Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Jaana M Hartikainen Mikael Hartman Wei He Catherine S Healey Bernadette A M Heemskerk-Gerritsen Jane Heyworth Peter Hillemanns Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning John L Hopper Anthony Howell Guanmengqian Huang Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Agnes Jager Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Daehee Kang Pooja Middha Kapoor Beth Y Karlan Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Judy Kirk Cari M Kitahara Yon-Dschun Ko Irene Konstantopoulou Veli-Matti Kosma Stella Koutros Katerina Kubelka-Sabit Ava Kwong Kyriacos Kyriacou Yael Laitman Diether Lambrechts Eunjung Lee Goska Leslie Jenny Lester Fabienne Lesueur Annika Lindblom Wing-Yee Lo Jirong Long Artitaya Lophatananon Jennifer T Loud Jan Lubiński Robert J MacInnis Tom Maishman Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Keitaro Matsuo Tabea Maurer Dimitrios Mavroudis Rebecca Mayes Lesley McGuffog Catriona McLean Noura Mebirouk Alfons Meindl Austin Miller Nicola Miller Marco Montagna Fernando Moreno Kenneth Muir Anna Marie Mulligan Victor M Muñoz-Garzon Taru A Muranen Steven A Narod Rami Nassir Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Patrick Neven Finn C Nielsen Liene Nikitina-Zake Aaron Norman Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Nick Orr Ana Osorio V Shane Pankratz Janos Papp Sue K Park Tjoung-Won Park-Simon Michael T Parsons James Paul Inge Sokilde Pedersen Bernard Peissel Beth Peshkin Paolo Peterlongo Julian Peto Dijana Plaseska-Karanfilska Karolina Prajzendanc Ross Prentice Nadege Presneau Darya Prokofyeva Miquel Angel Pujana Katri Pylkäs Paolo Radice Susan J Ramus Johanna Rantala Rohini Rau-Murthy Gad Rennert Harvey A Risch Mark Robson Atocha Romero Maria Rossing Emmanouil Saloustros Estela Sánchez-Herrero Dale P Sandler Marta Santamariña Christobel Saunders Elinor J Sawyer Maren T Scheuner Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Ben Schöttker Peter Schürmann Christopher Scott Rodney J Scott Leigha Senter Caroline M Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xiao-Ou Shu Christian F Singer Thomas P Slavin Snezhana Smichkoska Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Dominique Stoppa-Lyonnet Christian Sutter Anthony J Swerdlow Rulla M Tamimi Yen Yen Tan William J Tapper Jack A Taylor Manuel R Teixeira Maria Tengström Soo Hwang Teo Mary Beth Terry Alex Teulé Mads Thomassen Darcy L Thull Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Diana Torres Gabriela Torres-Mejía Melissa A Troester Thérèse Truong Nadine Tung Maria Tzardi Hans-Ulrich Ulmer Celine M Vachon Christi J van Asperen Lizet E van der Kolk Elizabeth J van Rensburg Ana Vega Alessandra Viel Joseph Vijai Maartje J Vogel Qin Wang Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Hans Wildiers Robert Winqvist Alicja Wolk Anna H Wu Drakoulis Yannoukakos Yan Zhang Wei Zheng David Hunter Paul D P Pharoah Jenny Chang-Claude Montserrat García-Closas Marjanka K Schmidt Roger L Milne Vessela N Kristensen Juliet D French Stacey L Edwards Antonis C Antoniou Georgia Chenevix-Trench Jacques Simard Douglas F Easton Peter Kraft Alison M Dunning

Nat Genet 2020 01 7;52(1):56-73. Epub 2020 Jan 7.

Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/s41588-019-0537-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974400PMC
January 2020

The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Authors:
Gisella Figlioli Massimo Bogliolo Irene Catucci Laura Caleca Sandra Viz Lasheras Roser Pujol Johanna I Kiiski Taru A Muranen Daniel R Barnes Joe Dennis Kyriaki Michailidou Manjeet K Bolla Goska Leslie Cora M Aalfs Muriel A Adank Julian Adlard Simona Agata Karen Cadoo Bjarni A Agnarsson Thomas Ahearn Kristiina Aittomäki Christine B Ambrosone Lesley Andrews Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Ella Asseryanis Bernd Auber Päivi Auvinen Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Julian Barwell Laura E Beane Freeman Charles Joly Beauparlant Matthias W Beckmann Sabine Behrens Javier Benitez Raanan Berger Marina Bermisheva Amie M Blanco Carl Blomqvist Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Ake Borg Angela F Brady Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Saundra S Buys Trinidad Caldés Almuth Caliebe Maria A Caligo Daniele Campa Ian G Campbell Federico Canzian Jose E Castelao Jenny Chang-Claude Stephen J Chanock Kathleen B M Claes Christine L Clarke Anita Collavoli Thomas A Conner David G Cox Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Peter Devilee Orland Diez Yuan Chun Ding Gillian S Dite Nina Ditsch Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Katarzyna Durda Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger William D Foulkes Tara M Friebel Eitan Friedman Marike Gabrielson Pragna Gaddam Manuela Gago-Dominguez Chi Gao Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Pascal Guénel Angelica M Gutierrez-Barrera Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle John L Hopper H Dean Hosgood Anthony Howell Chunling Hu Peter J Hulick David J Hunter Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Beth Y Karlan Elza Khusnutdinova Cari M Kitahara Irene Konstantopoulou Stella Koutros Peter Kraft Diether Lambrechts Conxi Lazaro Loic Le Marchand Jenny Lester Fabienne Lesueur Jenna Lilyquist Jennifer T Loud Karen H Lu Robert N Luben Jan Lubinski Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin John W M Martens Tabea Maurer Dimitrios Mavroudis Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Marco Montagna Katherine L Nathanson Susan L Neuhausen William G Newman Tu Nguyen-Dumont Finn Cilius Nielsen Sarah Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Andrew F Olshan Janet E Olson Håkan Olsson Ana Osorio Laura Ottini Bernard Peissel Ana Peixoto Julian Peto Dijana Plaseska-Karanfilska Timea Pocza Nadege Presneau Miquel Angel Pujana Kevin Punie Brigitte Rack Johanna Rantala Muhammad U Rashid Rohini Rau-Murthy Gad Rennert Flavio Lejbkowicz Valerie Rhenius Atocha Romero Matti A Rookus Eric A Ross Maria Rossing Vilius Rudaitis Matthias Ruebner Emmanouil Saloustros Kristin Sanden Marta Santamariña Maren T Scheuner Rita K Schmutzler Michael Schneider Christopher Scott Leigha Senter Mitul Shah Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Linda Steele Dominique Stoppa-Lyonnet William J Tapper Manuel R Teixeira Mary Beth Terry Mads Thomassen Jennifer Thompson Darcy L Thull Marc Tischkowitz Rob A E M Tollenaar Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Elizabeth J van Rensburg Elke M van Veen Ana Vega Alessandra Viel Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Greet Wieme Alicja Wolk Xiaohong R Yang Wei Zheng Argyrios Ziogas Kristin K Zorn Alison M Dunning Michael Lush Qin Wang Lesley McGuffog Michael T Parsons Paul D P Pharoah Florentia Fostira Amanda E Toland Irene L Andrulis Susan J Ramus Anthony J Swerdlow Mark H Greene Wendy K Chung Roger L Milne Georgia Chenevix-Trench Thilo Dörk Marjanka K Schmidt Douglas F Easton Paolo Radice Eric Hahnen Antonis C Antoniou Fergus J Couch Heli Nevanlinna Jordi Surrallés Paolo Peterlongo

NPJ Breast Cancer 2019 1;5:38. Epub 2019 Nov 1.

IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.

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http://dx.doi.org/10.1038/s41523-019-0127-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825205PMC
November 2019

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.

J Clin Endocrinol Metab 2019 09;104(9):3637-3646

Department of Clinical Research, Faculty of Health, University of Southern Denmark, Odense, Denmark.

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http://dx.doi.org/10.1210/jc.2019-00082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637788PMC
September 2019

Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia.

Br J Haematol 2019 07 25;186(2):373-376. Epub 2019 Mar 25.

Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/bjh.15886DOI Listing
July 2019

Whole genome sequencing of breast cancer.

APMIS 2019 May 28;127(5):303-315. Epub 2019 Jan 28.

Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://doi.wiley.com/10.1111/apm.12920
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http://dx.doi.org/10.1111/apm.12920DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850492PMC
May 2019

Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.

J Surg Oncol 2019 May 15;119(6):687-693. Epub 2019 Jan 15.

Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.

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http://doi.wiley.com/10.1002/jso.25371
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http://dx.doi.org/10.1002/jso.25371DOI Listing
May 2019

Using microarray-based subtyping methods for breast cancer in the era of high-throughput RNA sequencing.

Mol Oncol 2018 12 29;12(12):2136-2146. Epub 2018 Oct 29.

Department of Bio and Health Informatics, Technical University of Denmark, Kemitorvet, Kongens Lyngby, Denmark.

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http://doi.wiley.com/10.1002/1878-0261.12389
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http://dx.doi.org/10.1002/1878-0261.12389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275246PMC
December 2018

Refractory chronic "ITP": When platelet size matters.

Clin Case Rep 2018 Sep 20;6(9):1779-1780. Epub 2018 Jul 20.

Department of Immunology, Genetics and Pathology Clinical and Experimental Pathology Uppsala University and Uppsala University Hospital Uppsala Sweden.

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http://dx.doi.org/10.1002/ccr3.1711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132098PMC
September 2018

[A family with a congenital DICER1 mutation].

Ugeskr Laeger 2018 Jun;180(25)

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June 2018

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

JCO Precis Oncol 2018 26;2. Epub 2018 Oct 26.

Maastricht University Medical Center, Maastricht.

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http://dx.doi.org/10.1200/PO.18.00091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742430PMC
October 2018

A Danish national effort of BRCA1/2 variant classification.

Acta Oncol 2018 01 23;57(1):159-162. Epub 2017 Nov 23.

g Department of Clinical Genetics , Odense University Hospital , Odense , Denmark.

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http://dx.doi.org/10.1080/0284186X.2017.1400693DOI Listing
January 2018

Molecular subtyping of breast cancer improves identification of both high and low risk patients.

Acta Oncol 2018 Jan 22;57(1):58-66. Epub 2017 Nov 22.

a Center for Genomic Medicine , Rigshospitalet, Copenhagen University Hospital , Copenhagen , Denmark.

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http://dx.doi.org/10.1080/0284186X.2017.1398416DOI Listing
January 2018

Characterization of basal-like subtype in a Danish consecutive primary breast cancer cohort.

Acta Oncol 2018 Jan 22;57(1):51-57. Epub 2017 Nov 22.

a Center for Genomic Medicine , Rigshospitalet, Copenhagen University Hospital , Copenhagen , Denmark.

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http://dx.doi.org/10.1080/0284186X.2017.1398837DOI Listing
January 2018

MicroRNA Changes in Cerebrospinal Fluid After Subarachnoid Hemorrhage.

Stroke 2017 09 2;48(9):2391-2398. Epub 2017 Aug 2.

From the Departments of Neuroanaesthesiology (S.B., K.M.) and Neurosurgery (R.R.), The Neuroscience Centre, and Centre for Genomic Medicine (S.B., M.R., F.C.N.), Rigshospitalet, and Department of Anaesthesia, Frederiksberg Hospital (F.P.L.), University of Copenhagen, Denmark.

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http://dx.doi.org/10.1161/STROKEAHA.117.017804DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571886PMC
September 2017

Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma.

Cancer Genet 2017 04 22;212-213:32-37. Epub 2017 Mar 22.

Department of Paediatrics and Adolescent Medicine, Neuroscience Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.cancergen.2017.03.005DOI Listing
April 2017

A new NFIA:RAF1 fusion activating the MAPK pathway in pilocytic astrocytoma.

Cancer Genet 2016 Oct 16;209(10):440-444. Epub 2016 Sep 16.

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22107762163023
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http://dx.doi.org/10.1016/j.cancergen.2016.09.002DOI Listing
October 2016

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

J Hum Genet 2017 Feb 13;62(2):151-157. Epub 2016 Oct 13.

Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/jhg.2016.118DOI Listing
February 2017

Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1.

Cold Spring Harb Mol Case Stud 2016 Jul;2(4):a000828

Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1101/mcs.a000828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990812PMC
July 2016

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Hered Cancer Clin Pract 2016 8;14:13. Epub 2016 Jun 8.

Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1186/s13053-016-0053-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898401PMC
June 2016

Detection and quantification of microRNA in cerebral microdialysate.

J Transl Med 2015 May 7;13:149. Epub 2015 May 7.

Department of Neuroanaesthesiology, The Neuroscience Centre, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1186/s12967-015-0505-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438475PMC
May 2015

Characterization of miRNA expression in human degenerative lumbar disks.

Connect Tissue Res 2013 15;54(3):197-203. Epub 2013 Apr 15.

Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.3109/03008207.2013.781594DOI Listing
March 2014

Classification of follicular cell-derived thyroid cancer by global RNA profiling.

Authors:
Maria Rossing

J Mol Endocrinol 2013 Apr 18;50(2):R39-51. Epub 2013 Mar 18.

Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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https://jme.bioscientifica.com/view/journals/jme/50/2/R39.xm
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http://dx.doi.org/10.1530/JME-12-0170DOI Listing
April 2013

A Decade of Global mRNA and miRNA Profiling of HPV-Positive Cell Lines and Clinical Specimens.

Open Virol J 2012 28;6:216-31. Epub 2012 Dec 28.

The Bioinformatics Centre, Department of Biology and Biomedical Research and Innovation Centre, University of Copenhagen, Ole Maaloes Vej 5, DK-2200 Copenhagen, Denmark.

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http://dx.doi.org/10.2174/1874357901206010216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547333PMC
January 2013

Integrative analyses reveal novel strategies in HPV11,-16 and -45 early infection.

Sci Rep 2012 17;2:515. Epub 2012 Jul 17.

The Bioinformatics Centre, Department of Biology and Biomedical Research and Innovation Centre, Copenhagen University, Ole Maaloes Vej 5, 2200Copenhagen, Denmark.

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http://dx.doi.org/10.1038/srep00515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398386PMC
March 2013

Down-regulation of microRNAs controlling tumourigenic factors in follicular thyroid carcinoma.

J Mol Endocrinol 2012 Feb 25;48(1):11-23. Epub 2012 Jan 25.

Center for Genomic Medicine, University of Copenhagen, Rigshospitalet, DK - 2100 Copenhagen, Denmark.

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February 2012

Differential expression of cellular microRNAs in HPV 11, -16, and -45 transfected cells.

Biochem Biophys Res Commun 2011 Aug 18;412(1):20-5. Epub 2011 Jul 18.

Institute of Cellular and Molecular Medicine, DNA Tumor Virus Laboratory, University of Copenhagen, Panum Institute, Blegdamsvej 3, 2200 Copenhagen, Denmark.

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August 2011

Differential expression of cellular microRNAs in HPV-11 transfected cells. An analysis by three different array platforms and qRT-PCR.

Biochem Biophys Res Commun 2010 Dec 13;403(3-4):357-62. Epub 2010 Nov 13.

Institute of Cellular and Molecular Medicine, DNA Tumor Virus Laboratory, University of Copenhagen, Panum Institute, Blegdamsvej 3, DK-2200, Denmark.

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December 2010

Downregulation of miR-125b in metastatic cutaneous malignant melanoma.

Melanoma Res 2010 Dec;20(6):479-84

Department of Plastic Surgery and Burn Unit, Epigenomisk Laboratory, Rigshospitalet, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1097/CMR.0b013e32833e32a1DOI Listing
December 2010

Molecular signatures of thyroid follicular neoplasia.

Endocr Relat Cancer 2010 Sep 28;17(3):691-708. Epub 2010 Jul 28.

Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1677/ERC-09-0288DOI Listing
September 2010

MicroRNA expression in melanocytic nevi: the usefulness of formalin-fixed, paraffin-embedded material for miRNA microarray profiling.

J Invest Dermatol 2009 May 13;129(5):1219-24. Epub 2008 Nov 13.

Department of Plastic Surgery and Burn Unit, Faculty of Health Sciences, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.

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May 2009