Search Results - Nicholas Pachter

  • Showing 1 - 18 results of 18
Refine Results
  1. 1
    Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4

    Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4 by Anthony J. Gill, Nicholas Pachter, Adele Clarkson, Katherine Tucker, Ingrid Winship, Diana E. Benn, Bruce G. Robinson, Roderick Clifton‐Bligh

    Published 2011
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  2. 2
    Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

    Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children by Yong Song, Hilda Higgins, Jing Guo, Katrina Harrison, En Nee Schultz, Belinda J. Hales, Eric K. Moses, Jack Goldblatt, Nicholas Pachter, Guicheng Zhang

    Published 2018
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

    Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges by Gemma A. Bilkey, Belinda L. Burns, Emily P. Coles, Faye L. Bowman, John Beilby, Nicholas Pachter, Gareth Baynam, Hugh Dawkins, Kristen L. Nowak, Tarun Weeramanthri

    Published 2019
    Get full text
    Revisão
    Save to List
    Saved in:
  4. 4
    A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

    A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data by Justin O. Szot, Hartmut Cuny, Gillian M. Blue, David T. Humphreys, Eddie Ip, Katrina Harrison, Gary F. Sholler, Eleni Giannoulatou, Paul Leo, Emma L. Duncan, Duncan B. Sparrow, Joshua W. K. Ho, Robert M. Graham, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Sally L. Dunwoodie

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

    Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience by Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa Atkinson, C. Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen L. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection by Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Alan L. Scott, P. Dane Witmer, Lesley C. Adès, Grégor Andelfinger, Pauline Arnaud, Cathérine Boileau, Bert Callewaert, Dongchuan Guo, Nadine Hanna, Mark E. Lindsay, Hiroko Morisaki, Takayuki Morisaki, Nicholas Pachter, Leema Robert, Lut Van Laer, Harry C. Dietz, Bart Loeys, Dianna M. Milewicz, Julie De Backer

    Published 2018
    Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

    Identification of clinically actionable variants from genome sequencing of families with congenital heart disease by Dimuthu Alankarage, Eddie Ip, Justin O. Szot, Jacob E. Munro, Gillian M. Blue, Katrina Harrison, Hartmut Cuny, Annabelle Enriquez, Michael Troup, David T. Humphreys, Meredith Wilson, Richard P. Harvey, Gary F. Sholler, Robert M. Graham, Joshua W. K. Ho, Edwin P. Kirk, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

    The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service by Gareth Baynam, Nicholas Pachter, F. Ellis McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly‐Borri, Anand Vasudevan, Anne Hunsaker Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, C. E. Walker, Caron Molster, Jenefer M. Blackwell, Sarra E. Jamieson, Dave Tang, Timo Lassmann, Kym Mina, John Beilby, Mark R. Davis, Nigel G. Laing, Lesley Murphy, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... by Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) by Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien, Tony Roscioli, David J. Amor, Madhura Bakshi, Clara W. T. Chung, Alison Colley, Robyn V. Jamieson, Jan Liebelt, Alan Ma, Nicholas Pachter, Sulekha Rajagopalan, Anja Ravine, Meredith Wilson, Jade Caruana, Rachael Casella, Mark R. Davis, Samantha Edwards, Alison D. Archibald, Julie McGaughran, Ainsley J. Newson, Nigel G. Laing, Martin B. Delatycki

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Adenomas from individuals with pathogenic biallelic variants in the<i>MUTYH</i>and<i>NTHL1</i>genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

    Adenomas from individuals with pathogenic biallelic variants in the<i>MUTYH</i>and<i>NTHL1</i>genes demonstrate base excision repair tumour mutational signature profiles similar to... by Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ana B. D. Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Giovana Tardin Torrezan, Christophe Rosty, Finlay Macrae, Ingrid Winship, Daniel D. Buchanan, Peter Georgeson

    Published 2024
    Get full text
    Pré-impressão
    Save to List
    Saved in:
  12. 12
    Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

    Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorecta... by Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ana Beatriz Deleame Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Giovana Tardin Torrezan, Christophe Rosty, Finlay Macrae, Ingrid Winship, Daniel D. Buchanan, Peter Georgeson

    Published 2025
    Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation by Alison D. Archibald, Belinda McClaren, Jade Caruana, Erin Tutty, Emily King, Jane Halliday, Stephanie Best, Anaita Kanga‐Parabia, Bruce Bennetts, Corrina Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow‐Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin Downes, Mathew Wallis, Monica Ferrie, Nicholas Pachter, Paul Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan Walker, Tiffany Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki

    Published 2022
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Genetic Testing and Clinical Management Practices for Variants in Non-<i>BRCA1</i>/<i>2</i> Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

    Genetic Testing and Clinical Management Practices for Variants in Non-<i>BRCA1</i>/<i>2</i> Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the... by Sarah M. Nielsen, Diana Eccles, Iris L. Romero, Fahd Al‐Mulla, Judith Balmañà, Michela Biancolella, Rien Blok, Maria A. Caligo, Mariarosaria Calvello, Gabriele Lorenzo Capone, Pietro Cavalli, Tai-Hua Chan, Kathleen Claes, Laura Cortesi, Fergus J. Couch, Miguel de la Hoya, Simona De Toffol, Orland Dı́ez, Susan M. Domchek, Rosalind A. Eeles, Anna Efremidis, Florentia Fostira, David E. Goldgar, Andreas Hadjisavvas, Thomas van Overeem Hansen, Akira Hirasawa, Claude Houdayer, Petra Kleiblová, Sophie Krieger, Conxi Lázaro, Maria A. Loizidou, Siranoush Manoukian, Arjen R. Mensenkamp, Setareh Moghadasi, Álvaro N.A. Monteiro, Luigi Mori, April Morrow, Nadia Naldi, Henriette Roed Nielsen, Olufunmilayo I. Olopade, Nicholas Pachter, Edenir Inêz Palmero, Inge Søkilde Pedersen, Maria Piane, Marianna Puzzo, Mark E. Robson, Maria Rossing, Maria Cristina Sini, Ángela R. Solano, Jana Soukupová, Gianluca Tedaldi, Manuel R. Teixeira, Mads Thomassen, Maria Grazia Tibiletti, Amanda E. Toland, Therese Törngren, Erica Vaccari, Liliana Varesco, Ana Vega, Yvonne Wallis, Barbara Wappenschmidt, Jeffrey N. Weitzel, Amanda B. Spurdle, Arcangela De Nicolo, E. Gómez

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort by Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke S. Lambeth, Aurore Bouty, Ingrid Knarston, Tiong Yang Tan, Fergus Cameron, George A. Werther, John Hutson, Michele A. O’Connell, Sonia Grover, Yves Héloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F. Hunter, Shubha Srinivasan, Angela Titmuss, Charles F. Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M. Leong, Makato Ono, Antony Lafferty, Tony Huynh, Uma Visser, Catherine S. Choong, F. Ellis McKenzie, Nicholas Pachter, Elizabeth M. Thompson, Jennifer Couper, Anne Baxendale, Jozef Gécz, Benjamin J. Wheeler, Craig Jefferies, Karen E. MacKenzie, Paul L. Hofman, Philippa Carter, Richard King, Csilla Krausz, Conny M.A. van Ravenswaaij‐Arts, Leendert H. J. Looijenga, S L S Drop, Stefan Riedl, Martine Cools, Angelika J. Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem, Tran Kiem Hao, Vincent R. Harley, Peter Koopman, Garry L. Warne, Sultana MH Faradz, Alicia Oshlack, Katie L. Ayers, Andrew Sinclair

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

    Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia by Gerald F. Watts, David Sullivan, David L. Hare, Karam Kostner, Ari Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert Justo, Clara K Chow, Jing Pang, Zanfina Ademi, Justin J. Ardill, Wendy Barnett, Timothy R. Bates, Lawrence J. Beilin, Warrick Bishop, J. Andrew Black, Peter Brett, Alex Brown, John R. Burnett, Christina A. Bursill, Alison Colley, Peter Clifton, Elif I. Ekinci, Luke Elias, Gemma A. Figtree, Brett H Forge, Jacquie Garton‐Smith, Dorothy Graham, Ian Hamilton‐Craig, Christian Hamilton‐Craig, Clare Heal, Charlotte Hespe, Amanda J. Hooper, L. G. Howes, Jodie Ingles, John J. Irvin, Edward Janus, Nadarajah Kangaharan, Anthony Keech, Andrew B. Kirke, Leonard Kritharides, Campbell Kyle, Paul Lacaze, Kirsten Lambert, Stephen C.H. Li, Wynand Malan, Stjepana Maticevic, Brendan McQuillan, S. Mirzaee, Trevor A. Mori, Allison Morton, David Colquhoun, Joanna C. Moullin, Paul J. Nestel, Kristen L. Nowak, Richard O’Brien, Nicholas Pachter, Michael M. Page, Annette Pedrotti, Peter J. Psaltis, Jan Radford, Nicola Reid, E. Robertson, Jacqueline D.M. Ryan, Mitchell Sarkies, Carl Schultz, Russell Scott, Christopher Semsarian, Leon A. Simons, Catherine Spinks, Andrew Tonkin, Frank van Bockxmeer, K. Waddell-Smith, Natalie C. Ward, Harvey D. White, Andrew M. Wilson, Ingrid Winship, Ann Woodward, Stephen J. Nicholls

    Published 2020
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  17. 17
    A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

    A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study by Elizabeth Bancroft, Elizabeth Page, Mark N. Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Mæhle, Eli Marie Grindedal, Astrid Stormorken, D. Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F. Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul A. James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R. Teixeira, Louise Izatt, Mohnish Suri, Finlay Macrae, Nicola Poplawski, Rakefet Chen‐Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh, Carole Brewer, Nicholas Pachter, Allan D. Spigelman, Ashraf Azzabi, Brian T. Helfand, Dorothy Halliday, Saundra S. Buys, Teresa Ramón y Cajal, Alan Donaldson, Kathleen A. Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K. Aaronson, Audrey Ardern‐Jones, Chris H. Bangma, Elena Castro, David P. Dearnaley, Alexander Dias, Tim Dudderidge, Diana Eccles, Kate Green, Jórunn E. Eyfjörd, Alison Falconer, Christopher S. Foster, Henrik Grönberg, Freddie C. Hamdy, Oskar T. Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J. Lindeman, Jan Lubiński, Karol Axcrona, Christos Mikropoulos, Anita Mitra, Clare Moynihan, Holly Ní Raghallaigh, Gad Rennert, Rebecca Collier, Lisa K. Adams, Julian Adlard, Rosa Alfonso, Saira Ali, Angela Andrew, Luís Araújo, N. Azam, Darran Ball, Queenstone Barker, Alon Basevitch, Barbara Benton, Cheryl Berlin, Nicola Bermingham, Leah H. Biller, Angela Bloss, Matilda Bradford

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

    Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers by Elizabeth Page, Elizabeth Bancroft, Mark N. Brook, Melissa Assel, Mona Hassan Al Battat, Sarah Thomas, Natalie Taylor, Anthony Chamberlain, Jennifer Pope, Holly Ní Raghallaigh, D. Gareth Evans, Jeanette Rothwell, Lovise Mæhle, Eli Marie Grindedal, Paul A. James, Lyon Mascarenhas, Joanne McKinley, Lucy Side, Tessy Thomas, Christi J. van Asperen, Hans F. A. Vasen, Lambertus A. Kiemeney, Janneke Ringelberg, Thomas D. Jensen, Palle Jørn Sloth Osther, Brian T. Helfand, Elena Genova, Rogier A. Oldenburg, Cezary Cybulski, Dominika Wokołorczyk, Kai‐Ren Ong, Camilla Huber, Jimmy Lam, Louise Taylor, Mónica Salinas, Lídia Feliubadaló, Jan C. Oosterwijk, Wendy van Zelst-Stams, Jackie Cook, Derek J. Rosario, Susan M. Domchek, Jacquelyn M. Powers, Saundra S. Buys, Karen O’Toole, Margreet G.E.M. Ausems, Rita K. Schmutzler, Kerstin Rhiem, Louise Izatt, Vishakha Tripathi, Manuel R. Teixeira, Marta Cardoso, William D. Foulkes, Armen Aprikian, Heleen van Randeraad, Rosemarie Davidson, Mark Longmuir, Mariëlle Ruijs, Apollonia T.J.M. Helderman van den Enden, Muriel A. Adank, Rachel Williams, Lesley Andrews, Declan G. Murphy, Dorothy Halliday, Lisa Walker, Annelie Liljegren, Stefan Carlsson, Ashraf Azzabi, Irene Jobson, Catherine Morton, Kylie Shackleton, Katie Snape, Helen Hanson, Marion Harris, Marc Tischkowitz, Amy Taylor, Judy Kirk, Rachel Susman, Rakefet Chen‐Shtoyerman, Allan D. Spigelman, Nicholas Pachter, Munaza Ahmed, Teresa Ramón y Cajal, Janez Žgajnar, Carole Brewer, Neus Gadea, Angela F. Brady, Theo van Os, David Gallagher, Oskar T. Johannsson, Alan Donaldson, Julian Barwell, Nicola Nicolai, Eitan Friedman, Elias Obeid, Lynn Greenhalgh, Vedang Murthy, Lucia Copáková, Sibel Saya, John McGrath, Peter Cooke

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: