Publications by authors named "Dijana Plaseska-Karanfilska"

50Publications

De novo mutations in idiopathic male infertility-A pilot study.

Andrology 2020 Aug 29. Epub 2020 Aug 29.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1111/andr.12897DOI Listing
August 2020

Association of TNF-a (rs361525 and rs1800629) with susceptibility to cervical intraepithelial lesion and cervical carcinoma in women from Republic of North Macedonia.

Int J Immunogenet 2020 Jul 14. Epub 2020 Jul 14.

Research Centre for Genetic Engineering and Biotechnology, Academy of Sciences and Arts, Skopje, Republic of North Macedonia.

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http://dx.doi.org/10.1111/iji.12506DOI Listing
July 2020

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.

Authors:
Jingjing Liu Wendy J C Prager-van der Smissen J Margriet Collée Manjeet K Bolla Qin Wang Kyriaki Michailidou Joe Dennis Thomas U Ahearn Kristiina Aittomäki Christine B Ambrosone Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Annelie Augustinsson Päivi Auvinen Heiko Becher Matthias W Beckmann Sabine Behrens Marina Bermisheva Leslie Bernstein Natalia V Bogdanova Nadja Bogdanova-Markov Stig E Bojesen Hiltrud Brauch Hermann Brenner Ignacio Briceno Sara Y Brucker Thomas Brüning Barbara Burwinkel Qiuyin Cai Hui Cai Daniele Campa Federico Canzian Jose E Castelao Jenny Chang-Claude Stephen J Chanock Ji-Yeob Choi Melissa Christiaens Christine L Clarke Fergus J Couch Kamila Czene Mary B Daly Peter Devilee Isabel Dos-Santos-Silva Miriam Dwek Diana M Eccles A Heather Eliassen Peter A Fasching Jonine Figueroa Henrik Flyger Lin Fritschi Manuela Gago-Dominguez Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Mark S Goldberg David E Goldgar Pascal Guénel Christopher A Haiman Niclas Håkansson Per Hall Patricia A Harrington Steven N Hart Mikael Hartman Peter Hillemanns John L Hopper Ming-Feng Hou David J Hunter Dezheng Huo Hidemi Ito Motoki Iwasaki Milena Jakimovska Anna Jakubowska Esther M John Rudolf Kaaks Daehee Kang Renske Keeman Elza Khusnutdinova Sung-Won Kim Peter Kraft Vessela N Kristensen Allison W Kurian Loic Le Marchand Jingmei Li Annika Lindblom Artitaya Lophatananon Robert N Luben Jan Lubiński Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Shivaani Mariapun Keitaro Matsuo Tabea Maurer Dimitrios Mavroudis Alfons Meindl Usha Menon Roger L Milne Kenneth Muir Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Kenneth Offit Olufunmilayo I Olopade Janet E Olson Håkan Olsson Nick Orr Sue K Park Paolo Peterlongo Julian Peto Dijana Plaseska-Karanfilska Nadege Presneau Brigitte Rack Rohini Rau-Murthy Gad Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Matthias Ruebner Emmanouil Saloustros Rita K Schmutzler Andreas Schneeweiss Christopher Scott Mitul Shah Chen-Yang Shen Xiao-Ou Shu Jacques Simard Christof Sohn Melissa C Southey John J Spinelli Rulla M Tamimi William J Tapper Soo H Teo Mary Beth Terry Diana Torres Thérèse Truong Michael Untch Celine M Vachon Christi J van Asperen Alicja Wolk Taiki Yamaji Wei Zheng Argyrios Ziogas Elad Ziv Gabriela Torres-Mejía Thilo Dörk Anthony J Swerdlow Ute Hamann Marjanka K Schmidt Alison M Dunning Paul D P Pharoah Douglas F Easton Maartje J Hooning John W M Martens Antoinette Hollestelle

Sci Rep 2020 Jun 16;10(1):9688. Epub 2020 Jun 16.

Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41598-020-65665-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297796PMC
June 2020

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Authors:
Haoyu Zhang Thomas U Ahearn Julie Lecarpentier Daniel Barnes Jonathan Beesley Guanghao Qi Xia Jiang Tracy A O'Mara Ni Zhao Manjeet K Bolla Alison M Dunning Joe Dennis Qin Wang Zumuruda Abu Ful Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Banu K Arun Paul L Auer Jacopo Azzollini Daniel Barrowdale Heiko Becher Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Bialkowska Ana Blanco Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Davide Bondavalli Ake Borg Hiltrud Brauch Hermann Brenner Ignacio Briceno Annegien Broeks Sara Y Brucker Thomas Brüning Barbara Burwinkel Saundra S Buys Helen Byers Trinidad Caldés Maria A Caligo Mariarosaria Calvello Daniele Campa Jose E Castelao Jenny Chang-Claude Stephen J Chanock Melissa Christiaens Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Orland Diez Susan M Domchek Thilo Dörk Miriam Dwek Diana M Eccles Arif B Ekici D Gareth Evans Peter A Fasching Jonine Figueroa Lenka Foretova Florentia Fostira Eitan Friedman Debra Frost Manuela Gago-Dominguez Susan M Gapstur Judy Garber José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Lothar Häberle Eric Hahnen Christopher A Haiman Christopher R Hake Per Hall Ute Hamann Elaine F Harkness Bernadette A M Heemskerk-Gerritsen Peter Hillemanns Frans B L Hogervorst Bernd Holleczek Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Hanna Huebner Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Agnes Jager Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Pooja Middha Kapoor Beth Y Karlan Renske Keeman Sofia Khan Elza Khusnutdinova Cari M Kitahara Yon-Dschun Ko Irene Konstantopoulou Linetta B Koppert Stella Koutros Vessela N Kristensen Anne-Vibeke Laenkholm Diether Lambrechts Susanna C Larsson Pierre Laurent-Puig Conxi Lazaro Emilija Lazarova Flavio Lejbkowicz Goska Leslie Fabienne Lesueur Annika Lindblom Jolanta Lissowska Wing-Yee Lo Jennifer T Loud Jan Lubinski Alicja Lukomska Robert J MacInnis Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Laura Matricardi Lesley McGuffog Catriona McLean Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Elvira Mingazheva Marco Montagna Anna Marie Mulligan Claire Mulot Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Finn C Nielsen Liene Nikitina-Zake Jesse Nodora Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Nick Orr Laura Papi Janos Papp Tjoung-Won Park-Simon Michael T Parsons Bernard Peissel Ana Peixoto Beth Peshkin Paolo Peterlongo Julian Peto Kelly-Anne Phillips Marion Piedmonte Dijana Plaseska-Karanfilska Karolina Prajzendanc Ross Prentice Darya Prokofyeva Brigitte Rack Paolo Radice Susan J Ramus Johanna Rantala Muhammad U Rashid Gad Rennert Hedy S Rennert Harvey A Risch Atocha Romero Matti A Rookus Matthias Rübner Thomas Rüdiger Emmanouil Saloustros Sarah Sampson Dale P Sandler Elinor J Sawyer Maren T Scheuner Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Ben Schöttker Peter Schürmann Leigha Senter Priyanka Sharma Mark E Sherman Xiao-Ou Shu Christian F Singer Snezhana Smichkoska Penny Soucy Melissa C Southey John J Spinelli Jennifer Stone Dominique Stoppa-Lyonnet Anthony J Swerdlow Csilla I Szabo Rulla M Tamimi William J Tapper Jack A Taylor Manuel R Teixeira MaryBeth Terry Mads Thomassen Darcy L Thull Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Ans M W van den Ouweland Lizet E van der Kolk Elke M van Veen Elizabeth J vanRensburg Ana Vega Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Hans Wildiers Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Wei Zheng Kristin K Zorn Roger L Milne Peter Kraft Jacques Simard Paul D P Pharoah Kyriaki Michailidou Antonis C Antoniou Marjanka K Schmidt Georgia Chenevix-Trench Douglas F Easton Nilanjan Chatterjee Montserrat García-Closas

Nat Genet 2020 06 18;52(6):572-581. Epub 2020 May 18.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41588-020-0609-2DOI Listing
June 2020

Association of IL-10 (rs1800872) and IL-4R (rs1805010) polymorphisms with cervical intraepithelial lesions and cervical carcinomas

J BUON 2020 Jan-Feb;25(1):132-140

Research Centre for Genetic Engineering and Biotechnology ”Georgi D.Efremov”, Macedonian Academy of Science and Arts, Skopje, Republic of North Macedonia

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April 2020

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Authors:
Helian Feng Alexander Gusev Bogdan Pasaniuc Lang Wu Jirong Long Zomoroda Abu-Full Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Paul L Auer Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Ana Blanco Carl Blomqvist Bram Boeckx Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Ake Borg Hiltrud Brauch Hermann Brenner Ignacio Briceno Annegien Broeks Thomas Brüning Barbara Burwinkel Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Sander Canisius Daniele Campa Brian D Carter Jonathan Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Kim De Leeneer Joe Dennis Peter Devilee Orland Diez Susan M Domchek Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Florentia Fostira Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Christopher Hake Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Guanmengqian Huang Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Audrey Jung Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Dominique Leroux Goska Leslie Jenny Lester Fabienne Lesueur Noralane Lindor Sara Lindström Wing-Yee Lo Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin John W M Martens Maria E Martinez Laura Matricardi Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Pooja M Kapoor Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna M Mulligan Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge S Pedersen Ana Peixoto Paolo Peterlongo Julian Peto Paul D P Pharoah Kelly-Anne Phillips Dijana Plaseska-Karanfilska Bruce Poppe Nisha Pradhan Karolina Prajzendanc Nadege Presneau Kevin Punie Katri Pylkäs Paolo Radice Johanna Rantala Muhammad Usman Rashid Gad Rennert Harvey A Risch Mark Robson Atocha Romero Emmanouil Saloustros Dale P Sandler Catarina Santos Elinor J Sawyer Marjanka K Schmidt Daniel F Schmidt Rita K Schmutzler Minouk J Schoemaker Rodney J Scott Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Anne-Bine Skytte Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Paula Vieiro-Balo Qin Wang Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Roger L Milne Douglas F Easton Georgia Chenevix-Trench Wei Zheng Peter Kraft Xia Jiang

Genet Epidemiol 2020 Jul 1;44(5):442-468. Epub 2020 Mar 1.

Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

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http://dx.doi.org/10.1002/gepi.22288DOI Listing
July 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

Publisher Correction: Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 Sep 23;10(1):4386. Epub 2019 Sep 23.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757065PMC
September 2019

Two truncating variants in FANCC and breast cancer risk.

Authors:
Thilo Dörk Paolo Peterlongo Arto Mannermaa Manjeet K Bolla Qin Wang Joe Dennis Thomas Ahearn Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Annelie Augustinsson Laura E Beane Freeman Matthias W Beckmann Alicia Beeghly-Fadiel Sabine Behrens Marina Bermisheva Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Hermann Brenner Barbara Burwinkel Federico Canzian Tsun L Chan Jenny Chang-Claude Stephen J Chanock Ji-Yeob Choi Hans Christiansen Christine L Clarke Fergus J Couch Kamila Czene Mary B Daly Isabel Dos-Santos-Silva Miriam Dwek Diana M Eccles Arif B Ekici Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Chi Gao Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Mark S Goldberg David E Goldgar Pascal Guénel Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Mikael Hartman Jan Hauke Alexander Hein Peter Hillemanns Frans B L Hogervorst Maartje J Hooning John L Hopper Tony Howell Dezheng Huo Hidemi Ito Motoki Iwasaki Anna Jakubowska Wolfgang Janni Esther M John Audrey Jung Rudolf Kaaks Daehee Kang Pooja Middha Kapoor Elza Khusnutdinova Sung-Won Kim Cari M Kitahara Stella Koutros Peter Kraft Vessela N Kristensen Ava Kwong Diether Lambrechts Loic Le Marchand Jingmei Li Sara Lindström Martha Linet Wing-Yee Lo Jirong Long Artitaya Lophatananon Jan Lubiński Mehdi Manoochehri Siranoush Manoukian Sara Margolin Elena Martinez Keitaro Matsuo Dimitris Mavroudis Alfons Meindl Usha Menon Roger L Milne Nur Aishah Mohd Taib Kenneth Muir Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Kenneth Offit Olufunmilayo I Olopade Andrew F Olshan Janet E Olson Håkan Olsson Sue K Park Tjoung-Won Park-Simon Julian Peto Dijana Plaseska-Karanfilska Esther Pohl-Rescigno Nadege Presneau Brigitte Rack Paolo Radice Muhammad U Rashid Gad Rennert Hedy S Rennert Atocha Romero Matthias Ruebner Emmanouil Saloustros Marjanka K Schmidt Rita K Schmutzler Michael O Schneider Minouk J Schoemaker Christopher Scott Chen-Yang Shen Xiao-Ou Shu Jacques Simard Susan Slager Snezhana Smichkoska Melissa C Southey John J Spinelli Jennifer Stone Harald Surowy Anthony J Swerdlow Rulla M Tamimi William J Tapper Soo H Teo Mary Beth Terry Amanda E Toland Rob A E M Tollenaar Diana Torres Gabriela Torres-Mejía Melissa A Troester Thérèse Truong Shoichiro Tsugane Michael Untch Celine M Vachon Ans M W van den Ouweland Elke M van Veen Joseph Vijai Camilla Wendt Alicja Wolk Jyh-Cherng Yu Wei Zheng Argyrios Ziogas Elad Ziv Alison M Dunning Paul D P Pharoah Detlev Schindler Peter Devilee Douglas F Easton

Sci Rep 2019 08 29;9(1):12524. Epub 2019 Aug 29.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/s41598-019-48804-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715680PMC
August 2019

Y-chromosome haplogroup architecture confers susceptibility to azoospermia factor c microrearrangements: a retrospective study.

Croat Med J 2019 Jun;60(3):273-283

Dijana Plaseska-Karanfilska, Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts, Krste Misirkov 2, 1000 Skopje, North Macedonia,

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June 2019

Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.

Am J Med Genet A 2019 07 22;179(7):1310-1314. Epub 2019 Apr 22.

Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.61153DOI Listing
July 2019

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

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http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Authors:
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal Andrew Lee Jonathan P Tyrer Ting-Huei Chen Qin Wang Manjeet K Bolla Xin Yang Muriel A Adank Thomas Ahearn Kristiina Aittomäki Jamie Allen Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Paul L Auer Päivi Auvinen Myrto Barrdahl Laura E Beane Freeman Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam Brentnall Ian W Brock Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D Carter Jose E Castelao Stephen J Chanock Rowan Chlebowski Hans Christiansen Christine L Clarke J Margriet Collée Emilie Cordina-Duverger Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Irina R Gilyazova Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Susan E Hankinson Elaine F Harkness Steven N Hart Wei He Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Milena Jakimovska Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Katarzyna Kaczmarek Vesa Kataja Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Julia A Knight Yon-Dschun Ko Veli-Matti Kosma Stella Koutros Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Jenna Lilyquist Annika Lindblom Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jan Lubiński Michael P Lux Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian Sara Margolin John W M Martens Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Usha Menon Pooja Middha Nicola Miller Fernando Moreno Anna Marie Mulligan Claire Mulot Victor M Muñoz-Garzon Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Kenneth Offit Janet E Olson Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Julian Peto Mila Pinchev Dijana Plaseska-Karanfilska Eric C Polley Ross Prentice Nadege Presneau Darya Prokofyeva Kristen Purrington Katri Pylkäs Brigitte Rack Paolo Radice Rohini Rau-Murthy Gad Rennert Hedy S Rennert Valerie Rhenius Mark Robson Atocha Romero Kathryn J Ruddy Matthias Ruebner Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Caroline Seynaeve Mitul Shah Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Susan Slager Ann Smeets Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Christa Stegmaier Jennifer Stone Anthony J Swerdlow Rulla M Tamimi William J Tapper Jack A Taylor Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Thérèse Truong Maria Tzardi Hans-Ulrich Ulmer Michael Untch Celine M Vachon Elke M van Veen Joseph Vijai Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Yan Zhang Wei Zheng Argyrios Ziogas Alison M Dunning Deborah J Thompson Georgia Chenevix-Trench Jenny Chang-Claude Marjanka K Schmidt Per Hall Roger L Milne Paul D P Pharoah Antonis C Antoniou Nilanjan Chatterjee Peter Kraft Montserrat García-Closas Jacques Simard Douglas F Easton

Am J Hum Genet 2019 01 13;104(1):21-34. Epub 2018 Dec 13.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.

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http://dx.doi.org/10.1016/j.ajhg.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323553PMC
January 2019

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Authors:
Lang Wu Wei Shi Jirong Long Xingyi Guo Kyriaki Michailidou Jonathan Beesley Manjeet K Bolla Xiao-Ou Shu Yingchang Lu Qiuyin Cai Fares Al-Ejeh Esdy Rozali Qin Wang Joe Dennis Bingshan Li Chenjie Zeng Helian Feng Alexander Gusev Richard T Barfield Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Paul L Auer Myrto Barrdahl Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Hermann Brenner Louise Brinton Per Broberg Sara Y Brucker Barbara Burwinkel Trinidad Caldés Federico Canzian Brian D Carter J Esteban Castelao Jenny Chang-Claude Xiaoqing Chen Ting-Yuan David Cheng Hans Christiansen Christine L Clarke Margriet Collée Sten Cornelissen Fergus J Couch David Cox Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Peter Devilee Kimberly F Doheny Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Miriam Dwek Diana M Eccles Ursula Eilber A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur Montserrat García-Closas Mia M Gaudet Maya Ghoussaini Graham G Giles Mark S Goldberg David E Goldgar Anna González-Neira Pascal Guénel Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Alexander Hein Belynda Hicks Peter Hillemanns Antoinette Hollestelle Robert N Hoover John L Hopper Guanmengqian Huang Keith Humphreys David J Hunter Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael E Jones Audrey Jung Rudolf Kaaks Michael J Kerin Elza Khusnutdinova Veli-Matti Kosma Vessela N Kristensen Diether Lambrechts Loic Le Marchand Jingmei Li Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubinski Craig Luccarini Michael P Lux Robert J MacInnis Tom Maishman Ivana Maleva Kostovska Arto Mannermaa JoAnn E Manson Sara Margolin Dimitrios Mavroudis Hanne Meijers-Heijboer Alfons Meindl Usha Menon Jeffery Meyer Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Børge G Nordestgaard Olufunmilayo I Olopade Janet E Olson Håkan Olsson Paolo Peterlongo Julian Peto Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gad Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Anja Rudolph Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Rodney J Scott Christopher G Scott Sheila Seal Mitul Shah Martha J Shrubsole Ann Smeets Melissa C Southey John J Spinelli Jennifer Stone Harald Surowy Anthony J Swerdlow Rulla M Tamimi William Tapper Jack A Taylor Mary Beth Terry Daniel C Tessier Abigail Thomas Kathrin Thöne Rob A E M Tollenaar Diana Torres Thérèse Truong Michael Untch Celine Vachon David Van Den Berg Daniel Vincent Quinten Waisfisz Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter C Willett Robert Winqvist Alicja Wolk Lucy Xia Xiaohong R Yang Argyrios Ziogas Elad Ziv Alison M Dunning Paul D P Pharoah Jacques Simard Roger L Milne Stacey L Edwards Peter Kraft Douglas F Easton Georgia Chenevix-Trench Wei Zheng

Nat Genet 2018 07 18;50(7):968-978. Epub 2018 Jun 18.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.

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http://dx.doi.org/10.1038/s41588-018-0132-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314198PMC
July 2018

Moleculary Confirmed, Cytogenetic Remission in a Case with Myelodysplastic Syndrome Treated with Azacitidne.

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec;38(3):157-162

Center of Biomolecular Pharmaceutical Analyses, UKIM - Faculty of Pharmacy, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.2478/prilozi-2018-0017DOI Listing
December 2017

TIMP3 Promoter Methylation Represents an Epigenetic Marker of BRCA1ness Breast Cancer Tumours.

Pathol Oncol Res 2018 Oct 9;24(4):937-940. Epub 2018 Mar 9.

Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts, KrsteMisirkov 2, Skopje, Republic of Macedonia.

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http://link.springer.com/10.1007/s12253-018-0398-4
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http://dx.doi.org/10.1007/s12253-018-0398-4DOI Listing
October 2018

Novel Founder Mutation in Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.

Balkan Med J 2018 01;35(1):108-111

Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Science and Arts, Skopje, Macedonia.

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http://dx.doi.org/10.4274/balkanmedj.2017.0618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820438PMC
January 2018

BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.

Breast Cancer Res Treat 2018 Apr 15;168(3):745-753. Epub 2018 Jan 15.

Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts, Krste Misirkov 2, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1007/s10549-017-4642-5DOI Listing
April 2018

First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia.

Hemoglobin 2017 Jul - Nov;41(4-6):308-310. Epub 2017 Dec 8.

a Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov , ' Macedonian Academy of Science and Arts , Skopje , Republic of Macedonia.

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https://www.tandfonline.com/doi/full/10.1080/03630269.2017.1
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http://dx.doi.org/10.1080/03630269.2017.1397016DOI Listing
August 2018

Association analysis identifies 65 new breast cancer risk loci.

Authors:
Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan Glubb Asha Rostamianfar Manjeet K Bolla Qin Wang Jonathan Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D French Xiao Qing Chen Laura Fachal Karen McCue Amy E McCart Reed Maya Ghoussaini Jason S Carroll Xia Jiang Hilary Finucane Marcia Adams Muriel A Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Banu Arun Paul L Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Judith S Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise Brinton Per Broberg Ian W Brock Annegien Broeks Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Katja Butterbach Qiuyin Cai Hui Cai Trinidad Caldés Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Tsun L Chan Ting-Yuan David Cheng Kee Seng Chia Ji-Yeob Choi Hans Christiansen Christine L Clarke Margriet Collée Don M Conroy Emilie Cordina-Duverger Sten Cornelissen David G Cox Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Peter Devilee Kimberly F Doheny Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel Mikael Eriksson Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Valerie Gaborieau Marike Gabrielson Manuela Gago-Dominguez Yu-Tang Gao Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Nathalie Hamel Susan Hankinson Patricia Harrington Steven N Hart Jaana M Hartikainen Mikael Hartman Alexander Hein Jane Heyworth Belynda Hicks Peter Hillemanns Dona N Ho Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Ming-Feng Hou Chia-Ni Hsiung Guanmengqian Huang Keith Humphreys Junko Ishiguro Hidemi Ito Motoki Iwasaki Hiroji Iwata Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Yoshio Kasuga Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Veli-Matti Kosma Vessela N Kristensen Ute Krüger Ava Kwong Diether Lambrechts Loic Le Marchand Eunjung Lee Min Hyuk Lee Jong Won Lee Chuen Neng Lee Flavio Lejbkowicz Jingmei Li Jenna Lilyquist Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Artitaya Lophatananon Jan Lubinski Craig Luccarini Michael P Lux Edmond S K Ma Robert J MacInnis Tom Maishman Enes Makalic Kathleen E Malone Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian JoAnn E Manson Sara Margolin Shivaani Mariapun Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis James McKay Catriona McLean Hanne Meijers-Heijboer Alfons Meindl Primitiva Menéndez Usha Menon Jeffery Meyer Hui Miao Nicola Miller Nur Aishah Mohd Taib Kenneth Muir Anna Marie Mulligan Claire Mulot Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Dong-Young Noh Børge G Nordestgaard Aaron Norman Olufunmilayo I Olopade Janet E Olson Håkan Olsson Curtis Olswold Nick Orr V Shane Pankratz Sue K Park Tjoung-Won Park-Simon Rachel Lloyd Jose I A Perez Paolo Peterlongo Julian Peto Kelly-Anne Phillips Mila Pinchev Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Darya Prokofyeva Elizabeth Pugh Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Kathryn J Ruddy Thomas Rüdiger Anja Rudolph Matthias Ruebner Emiel J T Rutgers Emmanouil Saloustros Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Rodney J Scott Christopher Scott Sheila Seal Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Grace Sheng Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Ann Smeets Christof Sohn Melissa C Southey John J Spinelli Christa Stegmaier Sarah Stewart-Brown Jennifer Stone Daniel O Stram Harald Surowy Anthony Swerdlow Rulla Tamimi Jack A Taylor Maria Tengström Soo H Teo Mary Beth Terry Daniel C Tessier Somchai Thanasitthichai Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Thérèse Truong Chiu-Chen Tseng Shoichiro Tsugane Hans-Ulrich Ulmer Giske Ursin Michael Untch Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Lizet van der Kolk Rob B van der Luijt Daniel Vincent Jason Vollenweider Quinten Waisfisz Shan Wang-Gohrke Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Taiki Yamaji Xiaohong R Yang Cheng Har Yip Keun-Young Yoo Jyh-Cherng Yu Wei Zheng Ying Zheng Bin Zhu Argyrios Ziogas Elad Ziv Sunil R Lakhani Antonis C Antoniou Arnaud Droit Irene L Andrulis Christopher I Amos Fergus J Couch Paul D P Pharoah Jenny Chang-Claude Per Hall David J Hunter Roger L Milne Montserrat García-Closas Marjanka K Schmidt Stephen J Chanock Alison M Dunning Stacey L Edwards Gary D Bader Georgia Chenevix-Trench Jacques Simard Peter Kraft Douglas F Easton

Nature 2017 11 23;551(7678):92-94. Epub 2017 Oct 23.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/nature24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798588PMC
November 2017

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Authors:
Roger L Milne Karoline B Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary Finucane Manjeet K Bolla Lesley McGuffog Qin Wang Cora M Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al-Ejeh Jamie Allen Christine B Ambrosone Christopher I Amos Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Bernd Auber Paul L Auer Margreet G E M Ausems Jacopo Azzollini François Bacot Judith Balmaña Monica Barile Laure Barjhoux Rosa B Barkardottir Myrto Barrdahl Daniel Barnes Daniel Barrowdale Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Leslie Bernstein Yves-Jean Bignon Kathleen R Blazer Marinus J Blok Carl Blomqvist William Blot Kristie Bobolis Bram Boeckx Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Aniko Bozsik Angela R Bradbury Judith S Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac-de Paillerets Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Federico Canzian Olivier Caron Angel Carracedo Brian D Carter J Esteban Castelao Laurent Castera Virginie Caux-Moncoutier Salina B Chan Jenny Chang-Claude Stephen J Chanock Xiaoqing Chen Ting-Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen B M Claes Christine L Clarke Thomas Conner Don M Conroy Jackie Cook Emilie Cordina-Duverger Sten Cornelissen Isabelle Coupier Angela Cox David G Cox Simon S Cross Katarina Cuk Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Rosemarie Davidson Kim De Leeneer Peter Devilee Ed Dicks Orland Diez Yuan Chun Ding Nina Ditsch Kimberly F Doheny Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Stéphane Dubois Pierre-Antoine Dugué Martine Dumont Alison M Dunning Lorraine Durcan Miriam Dwek Bernd Dworniczak Diana Eccles Ros Eeles Hans Ehrencrona Ursula Eilber Bent Ejlertsen Arif B Ekici A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Laurence Faivre Peter A Fasching Ulrike Faust Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Pragna Gaddam Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Vanesa Garcia-Barberan José A García-Sáenz Mia M Gaudet Marion Gauthier-Villars Andrea Gehrig Vassilios Georgoulias Anne-Marie Gerdes Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Paul Goodfellow Mark H Greene Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Daphne Gschwantler-Kaulich Pascal Guénel Qi Guo Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Emily Hallberg Ute Hamann Nathalie Hamel Susan Hankinson Thomas V O Hansen Patricia Harrington Steven N Hart Jaana M Hartikainen Catherine S Healey Alexander Hein Sonja Helbig Alex Henderson Jane Heyworth Belynda Hicks Peter Hillemanns Shirley Hodgson Frans B Hogervorst Antoinette Hollestelle Maartje J Hooning Bob Hoover John L Hopper Chunling Hu Guanmengqian Huang Peter J Hulick Keith Humphreys David J Hunter Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Uffe Birk Jensen Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Karin Kast Renske Keeman Michael J Kerin Carolien M Kets Machteld Keupers Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela N Kristensen Torben A Kruse Ava Kwong Anne-Vibeke Lænkholm Yael Laitman Fiona Lalloo Diether Lambrechts Keren Landsman Christine Lasset Conxi Lazaro Loic Le Marchand Julie Lecarpentier Andrew Lee Eunjung Lee Jong Won Lee Min Hyuk Lee Flavio Lejbkowicz Fabienne Lesueur Jingmei Li Jenna Lilyquist Anne Lincoln Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jennifer T Loud Jan Lubinski Craig Luccarini Michael Lush Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Kathleen E Malone Siranoush Manoukian JoAnn E Manson Sara Margolin John W M Martens Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis Sylvie Mazoyer Catriona McLean Hanne Meijers-Heijboer Primitiva Menéndez Jeffery Meyer Hui Miao Austin Miller Nicola Miller Gillian Mitchell Marco Montagna Kenneth Muir Anna Marie Mulligan Claire Mulot Sue Nadesan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Dieter Niederacher Sune F Nielsen Børge G Nordestgaard Aaron Norman Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold Kai-Ren Ong Jan C Oosterwijk Nick Orr Ana Osorio V Shane Pankratz Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Rachel Lloyd Inge Søkilde Pedersen Bernard Peissel Ana Peixoto Jose I A Perez Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Mila Pinchev Dijana Plaseska-Karanfilska Bruce Poppe Mary E Porteous Ross Prentice Nadege Presneau Darya Prokofieva Elizabeth Pugh Miquel Angel Pujana Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Hedy S Rennert Valerie Rhenius Kerstin Rhiem Andrea Richardson Gustavo C Rodriguez Atocha Romero Jane Romm Matti A Rookus Anja Rudolph Thomas Ruediger Emmanouil Saloustros Joyce Sanders Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Sheila Seal Leigha Senter Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xin Sheng Hermela Shimelis Martha J Shrubsole Xiao-Ou Shu Lucy E Side Christian F Singer Christof Sohn Melissa C Southey John J Spinelli Amanda B Spurdle Christa Stegmaier Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Harald Surowy Christian Sutter Anthony Swerdlow Csilla I Szabo Rulla M Tamimi Yen Y Tan Jack A Taylor Maria-Isabel Tejada Maria Tengström Soo H Teo Mary B Terry Daniel C Tessier Alex Teulé Kathrin Thöne Darcy L Thull Maria Grazia Tibiletti Laima Tihomirova Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Martine Tranchant Thérèse Truong Kathy Tucker Nadine Tung Jonathan Tyrer Hans-Ulrich Ulmer Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Ana Vega Alessandra Viel Joseph Vijai Daniel Vincent Jason Vollenweider Lisa Walker Zhaoming Wang Shan Wang-Gohrke Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Jelle Wesseling Alice S Whittemore Juul T Wijnen Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Xiaohong R Yang Drakoulis Yannoukakos Daniela Zaffaroni Wei Zheng Bin Zhu Argyrios Ziogas Elad Ziv Kristin K Zorn Manuela Gago-Dominguez Arto Mannermaa Håkan Olsson Manuel R Teixeira Jennifer Stone Kenneth Offit Laura Ottini Sue K Park Mads Thomassen Per Hall Alfons Meindl Rita K Schmutzler Arnaud Droit Gary D Bader Paul D P Pharoah Fergus J Couch Douglas F Easton Peter Kraft Georgia Chenevix-Trench Montserrat García-Closas Marjanka K Schmidt Antonis C Antoniou Jacques Simard

Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

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http://dx.doi.org/10.1038/ng.3785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808456PMC
December 2017

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Oncotarget 2016 Dec;7(49):80140-80163

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Quebec, Canada.

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http://dx.doi.org/10.18632/oncotarget.12818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340257PMC
December 2016

MicroRNA Profiling in Patients with Upper Tract Urothelial Carcinoma Associated with Balkan Endemic Nephropathy.

Biomed Res Int 2016 27;2016:7450461. Epub 2016 Apr 27.

Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts, 1000 Skopje, Macedonia.

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http://dx.doi.org/10.1155/2016/7450461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863087PMC
February 2017

Rare ATAD5 missense variants in breast and ovarian cancer patients.

Cancer Lett 2016 06 1;376(1):173-7. Epub 2016 Apr 1.

Clinics of Obstetrics and Gynecology, Hannover Medical School, Carl-Neuberg-Straße 1, D-30625 Hannover, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.canlet.2016.03.048DOI Listing
June 2016

Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients.

PLoS One 2016 8;11(1):e0146264. Epub 2016 Jan 8.

Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0146264PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706411PMC
June 2016

Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family.

Hemoglobin 2015 27;39(6):430-1. Epub 2015 Jul 27.

b Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts , Skopje , Republic of Macedonia.

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http://dx.doi.org/10.3109/03630269.2015.1066685DOI Listing
August 2016

HPV E6/E7 mRNA versus HPV DNA biomarker in cervical cancer screening of a group of Macedonian women.

J Med Virol 2015 Sep 16;87(9):1578-86. Epub 2015 Apr 16.

Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Science and Arts, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1002/jmv.24199DOI Listing
September 2015

"Balkan journal of medical genetics"--facts, editorial policies, practices and challenges.

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2014 ;35(3):89-93

Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov" Macedonian Academy of Sciences and Arts, Skopje, R. Macedonia.

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March 2016

SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

PLoS One 2014 11;9(11):e112498. Epub 2014 Nov 11.

Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, Republic of Macedonia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112498PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227699PMC
February 2016

Fanconi anemia founder mutation in Macedonian patients.

Acta Haematol 2014 13;132(1):15-21. Epub 2013 Dec 13.

Research Center for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1159/000355191DOI Listing
September 2014

Fast, reliable and low cost user-developed protocol for detection, quantification and genotyping of hepatitis C virus.

J Virol Methods 2014 Feb 21;196:104-12. Epub 2013 Nov 21.

Research Centre for Genetic Engineering and Biotechnology "Georgi D Efremov", Macedonian Academy of Sciences and Arts, Krste Misirkov 2, 1000 Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1016/j.jviromet.2013.11.002DOI Listing
February 2014

Prevalence of hepatitis C virus genotypes in risk groups in the Republic of Macedonia: a 5 years survey.

J Med Virol 2013 Dec 19;85(12):2072-8. Epub 2013 Aug 19.

Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1002/jmv.23706DOI Listing
December 2013

Molecular characterization of cystinuria in south-eastern European countries.

Urolithiasis 2013 Feb 27;41(1):21-30. Epub 2012 Dec 27.

Macedonian Academy of Science and Arts, Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", 1000, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1007/s00240-012-0531-xDOI Listing
February 2013

Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.

PLoS One 2012 26;7(10):e48167. Epub 2012 Oct 26.

Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Former Yugoslav Republic of Macedonia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0048167PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482202PMC
April 2013

Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method.

Genet Test Mol Biomarkers 2012 Apr 24;16(4):259-64. Epub 2011 Oct 24.

Research Center for Genetic Engineering and Biotechnology Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1089/gtmb.2011.0173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326265PMC
April 2012

Association study of single-nucleotide polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38 genes with male infertility.

J Androl 2012 Jul-Aug;33(4):675-83. Epub 2011 Oct 20.

Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Av Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia.

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http://dx.doi.org/10.2164/jandrol.111.013995DOI Listing
November 2012

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

Genet Test 2008 Dec;12(4):595-605

Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1089/gte.2008.0068DOI Listing
December 2008

Prenatal diagnosis of spinal muscular atrophy in Macedonian families.

Genet Test 2008 Sep;12(3):391-3

Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

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http://www.liebertpub.com/doi/10.1089/gte.2007.0112
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http://dx.doi.org/10.1089/gte.2007.0112DOI Listing
September 2008

AZF deletions in infertile men from the Republic of Macedonia.

Prilozi 2006 Jul;27(1):5-16

Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology, Skopje, R. Macedonia.

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July 2006

Non-invasive fetal sex determination using real-time PCR.

J Matern Fetal Neonatal Med 2006 Jun;19(6):337-42

Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences & Arts, Skopje, Republic of Macedonia.

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http://dx.doi.org/10.1080/14767050600593320DOI Listing
June 2006