Rachel Susman

Rachel Susman

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Rachel Susman

Rachel Susman

Publications by authors named "Rachel Susman"

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

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

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

The association between multiple pilomatrixomas and APC gene mutations.

Australas J Dermatol 2018 Nov 26;59(4):e273-e274. Epub 2018 Jan 26.

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1111/ajd.12782DOI Listing
November 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet G E M Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia T J M Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 03 6;118(6):e17. Epub 2018 Mar 6.

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http://dx.doi.org/10.1038/bjc.2018.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877440PMC
March 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet Gem Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia Tjm Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 01 4;118(2):266-276. Epub 2018 Jan 4.

The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/bjc.2017.429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785754PMC
January 2018

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.

Authors:
Elizabeth K Bancroft Elizabeth C Page Elena Castro Hans Lilja Andrew Vickers Daniel Sjoberg Melissa Assel Christopher S Foster Gillian Mitchell Kate Drew Lovise Mæhle Karol Axcrona D Gareth Evans Barbara Bulman Diana Eccles Donna McBride Christi van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Christina Selkirk Peter J Hulick Anders Bojesen Anne-Bine Skytte Jimmy Lam Louise Taylor Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Ignacio Blanco Monica Salinas Jackie Cook Derek J Rosario Saundra Buys Tom Conner Margreet G Ausems Kai-ren Ong Jonathan Hoffman Susan Domchek Jacquelyn Powers Manuel R Teixeira Sofia Maia William D Foulkes Nassim Taherian Marielle Ruijs Apollonia T Helderman-van den Enden Louise Izatt Rosemarie Davidson Muriel A Adank Lisa Walker Rita Schmutzler Kathy Tucker Judy Kirk Shirley Hodgson Marion Harris Fiona Douglas Geoffrey J Lindeman Janez Zgajnar Marc Tischkowitz Virginia E Clowes Rachel Susman Teresa Ramón y Cajal Nicholas Patcher Neus Gadea Allan Spigelman Theo van Os Annelie Liljegren Lucy Side Carole Brewer Angela F Brady Alan Donaldson Vigdis Stefansdottir Eitan Friedman Rakefet Chen-Shtoyerman David J Amor Lucia Copakova Julian Barwell Veda N Giri Vedang Murthy Nicola Nicolai Soo-Hwang Teo Lynn Greenhalgh Sara Strom Alex Henderson John McGrath David Gallagher Neil Aaronson Audrey Ardern-Jones Chris Bangma David Dearnaley Philandra Costello Jorunn Eyfjord Jeanette Rothwell Alison Falconer Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Zsofia Kote-Jarai Jan Lubinski Ulrika Axcrona Jane Melia Joanne McKinley Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Penny Wilson Emma Killick Sue Moss Rosalind A Eeles

Eur Urol 2014 Sep 15;66(3):489-99. Epub 2014 Jan 15.

Oncogenetics Team, Institute of Cancer Research, London, UK; Cancer Genetics Unit and Academic Urology Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.eururo.2014.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105321PMC
September 2014

Novel SOX2 partner-factor domain mutation in a four-generation family.

Eur J Hum Genet 2009 Nov 27;17(11):1417-22. Epub 2009 May 27.

The Children's Hospital at Westmead, Children's Medical Research Institute and Save Sight Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2009.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986670PMC
November 2009

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.

Clin Dysmorphol 2006 Apr;15(2):89-93

Queensland Clinical Genetics Service, Royal Children's Hospital, Herston, Brisbane 4029, Queensland, Australia.

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http://dx.doi.org/10.1097/01.mcd.0000194407.92676.9dDOI Listing
April 2006