Nicholas Pachter

Nicholas Pachter

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Nicholas Pachter

Nicholas Pachter

Publications by authors named "Nicholas Pachter"

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Uptake of testing for germline mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods.

Int J Gynecol Cancer 2019 Jul 17;29(6):1038-1042. Epub 2019 May 17.

Gynaecological Oncology, St John of God Hospital Bendat Family Comprehensive Cancer Centre, Perth, Western Australia, Australia

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http://dx.doi.org/10.1136/ijgc-2019-000389DOI Listing
July 2019

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

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.

Front Public Health 2019 11;7:40. Epub 2019 Mar 11.

Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, East Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2019.00040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421958PMC
March 2019

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.

Front Public Health 2019 11;7:41. Epub 2019 Mar 11.

Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2019.00041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421399PMC
March 2019

A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.

Cardiovasc Pathol 2018 Jul - Aug;35:48-51. Epub 2018 Apr 24.

University of Notre Dame, 32 Mouat Street, Fremantle, Western Australia, 6160. Electronic address:

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http://dx.doi.org/10.1016/j.carpath.2018.04.006DOI Listing
December 2018

Peritumoral granulomatous reaction in endometrial carcinoma: association with DNA mismatch repair protein deficiency, particularly loss of PMS2 expression.

Histopathology 2018 Sep 22;73(3):428-437. Epub 2018 Jun 22.

Western Diagnostic Pathology, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/his.13641DOI Listing
September 2018

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Adv Exp Med Biol 2017 ;1031:511-520

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1007/978-3-319-67144-4_27DOI Listing
June 2018

Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome.

Patient Educ Couns 2018 05 12;101(5):938-944. Epub 2017 Dec 12.

Health Psychology and Behavioural Medicine Research Group, School of Psychology and Speech Pathology, Faculty of Health Sciences, Curtin University, Perth, WA, Australia.

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http://dx.doi.org/10.1016/j.pec.2017.12.011DOI Listing
May 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

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Circ Genom Precis Med 2018 03;11(3):e001978

From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001978DOI Listing
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

3-Dimensional Facial Analysis-Facing Precision Public Health.

Front Public Health 2017 10;5:31. Epub 2017 Apr 10.

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2017.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385440PMC
April 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.

Int J Gynecol Cancer 2016 06;26(5):892-7

*St John of God Hospital Bendat Family Comprehensive Cancer Centre, Subiaco, Western Australia; †School of Women's and Infants' Health, University of Western Australia; ‡Institute for Health Research, University of Notre Dame Australia, Fremantle, Western Australia; §Genetics Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia; ∥Inherited Cancer Connect Partnership (ICCon); ¶School of Paediatrics and Child Health, University of Western Australia; and #School of Medicine and Pharmacology, University of Western Australia.

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http://dx.doi.org/10.1097/IGC.0000000000000689DOI Listing
June 2016

NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.

J Clin Endocrinol Metab 2015 Feb 2;100(2):E350-4. Epub 2014 Dec 2.

Centre for Endocrinology (T.V.N., L.F.C., L.A.M.), William Harvey Research Institute, John Vane Science Centre, Queen Mary, University of London, London, EC1M 6BQ, United Kingdom; Department of Endocrinology (S.R.R., G.P., C.S.C.), Princess Margaret Hospital, Child and Adolescent Services, Subiaco, Perth, Western Australia 6008; Department of Diagnostic Genomics (K.C.), PathWest Laboratory Medicine, Nedlands, Western Australia 6009; Genetic Services of Western Australia (N.P.), King Edward Memorial Hospital, Subiaco, Western Australia 6008; and School of Pediatrics and Child Health (S.R.R., N.P., C.S.C.), and School of Women's and Infants' Health (J.E.D.), University of Western Australia, Perth, Australia 6009.

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http://dx.doi.org/10.1210/jc.2014-3641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318891PMC
February 2015

Population-based screening for Lynch syndrome in Western Australia.

Int J Cancer 2014 Sep 24;135(5):1085-91. Epub 2014 Feb 24.

School of Surgery, University of Western Australia, Crawley, WA; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA; School of Paediatrics and Child Health, University of Western Australia, Crawley, WA.

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http://dx.doi.org/10.1002/ijc.28744DOI Listing
September 2014

Renal tumors associated with germline SDHB mutation show distinctive morphology.

Am J Surg Pathol 2011 Oct;35(10):1578-85

Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, NSW, 2065, Australia.

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http://dx.doi.org/10.1097/PAS.0b013e318227e7f4DOI Listing
October 2011