Výsledky vyhledávání - Jason Pinner

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  1. 1
    Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment

    Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment Autor Ali Chakera, Victoria L. Carleton, Sian Ellard, Jencia Wong, Dennis K. Yue, Jason Pinner, Andrew T. Hattersley, Glynis P. Ross

    Vydáno 2012
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  2. 2
    Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c

    Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c Autor Victoria L. Rudland, Marcus Hinchcliffe, Jason Pinner, Stuart J. Cole, Belinda Mercorella, Lynda Molyneaux, Maria Constantino, Dennis K. Yue, Glynis P. Ross, Jencia Wong

    Vydáno 2015
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  3. 3
    Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

    Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level Autor Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher Barnett, Meredith Wilson, Sarah A. Sandaradura, Belinda McClaren, Gemma R. Brett, Jeffrey Braithwaite, Zornitza Stark

    Vydáno 2021
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  4. 4
    Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

    Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care Autor Zornitza Stark, Amy Nisselle, Belinda McClaren, Fiona Lynch, Stephanie Best, Janet C. Long, Melissa Martyn, Chirag Patel, Luregn J. Schlapbach, Christopher Barnett, Christiane Theda, Jason Pinner, Marcel E. Dinger, Sebastian Lunke, Clara Gaff

    Vydáno 2019
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  5. 5
    Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

    Parental experiences of ultrarapid genomic testing for their critically unwell infants and children Autor Gemma R. Brett, Melissa Martyn, Fiona Lynch, M. De Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah L. King‐Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A. Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, Zornitza Stark

    Vydáno 2020
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  6. 6
    Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

    Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D Autor Margaret J. McMillin, Jennifer E. Below, Kathryn M. Shively, Anita Beck, Heidi Gildersleeve, Jason Pinner, Gloria R. Gogola, Jacqueline T. Hecht, Dorothy K. Grange, David J. Harris, Dawn Earl, Sujatha Jagadeesh, Sarju Mehta, Stephen P. Robertson, James M. Swanson, Elaine M. Faustman, Heather C Mefford, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Vydáno 2012
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  7. 7
    <i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

    <i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk Autor Karen Oliver, Marina Trivisano, Simone Mandelstam, Angela De Dominicis, David Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Métreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaëtan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer

    Vydáno 2023
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  8. 8
    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder Autor Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens, Priyatansh Gurha, Katarzyna Kołodziejska, Zhishuo Ou, Piotr Dittwald, Tadeusz Majewski, K. Naga Mohan, Bo Chen, Richard Person, Dick Tibboel, Annelies de Klein, Jason Pinner, Maya Chopra, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Sixto F. Guiang, Virginia A. Hustead, José Jessurun, Russel Hirsch, David P. Witte, Isabelle Maystadt, Neil J. Sebire, Richard Fisher, Claire Langston, Partha Sen, Paweł Stankiewicz

    Vydáno 2012
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  9. 9
    AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production

    AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production Autor Satveer K. Mahil, Sophie Twelves, Katalin Farkas, Niovi Setta-Kaffetzi, A. David Burden, J. E. Gach, Alan D. Irvine, László Képíró, Maja Mockenhaupt, Hazel H. Oon, Jason Pinner, Annamari Ranki, Marieke M.B. Seyger, Pere Soler‐Palacín, Eoin R. Storan, Eugene Tan, L. Valeyrie‐Allanore, Helen Young, Richard C. Trembath, Siew Eng Choon, Márta Széll, Zsuzsanna Bata‐Csörgõ, Catherine Smith, Paola Di Meglio, Juliet N. Barker, Francesca Capon

    Vydáno 2016
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  10. 10
    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy Autor Samantha J. Bryen, Lisa Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O’Grady, Beryl B. Cummings, Katherine R. Chao, Ben Weisburd, Laurent C. Francioli, Fathimath Faiz, Adam Bournazos, Ying Hu, Carla Grosmann, Denise Malicki, Helen Doyle, Nanna Witting, John Vissing, Kristl G. Claeys, Kathryn Urankar, Ana Beleza‐Meireles, Júlia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G. Bönnemann, Daniel G. MacArthur, Mark R. Davis, Sandra T. Cooper

    Vydáno 2019
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  11. 11
    Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand

    Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand Autor Anaita Kanga‐Parabia, Lucas Mitchell, Renee Smyth, Trisha Kapoor, Jaitika Duggal, Amy Pearn, Rachel Williams, Eliza Courtney, Emma Edwards, Michelle W. Bowman, Mithila Belekar, Amy Nisselle, Amy Pearn, Anaita Kanga‐Parabia, Ben Lundie, Claire Wong, N.S.W. Health, Clara Gaff, Australian Genomics, Helen Mountain, Jaitika Duggal, Jason Pinner, Lauren J. Hunt, Lyndon Gallacher, Rachel Williams, Sebastian Lunke, Yemima Burman, Alex Blackwell, Ana Rakonjac, Anaita Kanga‐Parabia, Eliza Courtney, Emma Edwards, Emma Harrison, Janette Hayward, Lucas Mitchell, Lyndon Gallacher, Michelle W. Bowman, Michelle Cao, Mithila Belekar, Rachel Williams, Renee Smyth, Saraya Hogan, Trisha Kapoor, Clara Gaff, Amy Nisselle

    Vydáno 2024
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  12. 12
    Integrated multi-omics for rapid rare disease diagnosis on a national scale

    Integrated multi-omics for rapid rare disease diagnosis on a national scale Autor Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura, Meredith Wilson, Jason Pinner, Matthew F. Hunter, Christopher Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary‐Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S. Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R. Jackson, Hamish S. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, M. De Silva, Amanda Springer, Michelle C. Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David A. Stroud, Alison G. Compton, David R. Thorburn, Katrina M. Bell, Simon Sadedin, Kathryn N. North, John Christodoulou, Zornitza Stark

    Vydáno 2023
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  13. 13
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome Autor Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    Vydáno 2020
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  14. 14
    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Autor Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher Barnett, Jason Pinner, Sarah A. Sandaradura, Michael F. Buckley, Emma Krzesinski, M. De Silva, Gemma R. Brett, Kirsten Boggs, David Mowat, Edwin P. Kirk, Lesley C. Adès, Lauren Akesson, David J. Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, Alessandra Bray, Natasha J. Brown, Cheng Yee Chan, Belinda Chong, Corrina Cliffe, Martin B. Delatycki, Matthew Edwards, George Elakis, Michael Fahey, Andrew Fennell, Lindsay Fowles, Lyndon Gallacher, Megan Higgins, Katherine B. Howell, L. Hunt, Matthew F. Hunter, Kristi Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, Alan Ma, Dean Phelan, Michael C. Quinn, A. Mark Richards, Christopher M. Richmond, Jessica R. Riseley, Jonathan Rodgers, Rani Sachdev, Simon Sadedin, Luregn J. Schlapbach, Janine Smith, Amanda Springer, Natalie B. Tan, Tiong Yang Tan, Suzanna L. Temple, Christiane Theda, Anand Vasudevan, Susan M. White, Alison Yeung, Ying Zhu, Melissa Martyn, Stephanie Best, Tony Roscioli, John Christodoulou, Zornitza Stark

    Vydáno 2020
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  15. 15
    Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Congenital Titinopathy: Comprehensive characterization and pathogenic insights Autor Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

    Vydáno 2018
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  16. 16
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Autor Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir C. Akdemir, Shalini N. Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A. Yatsenko, Jessica Sebastian, Suneeta Madan‐Khetarpal, Urvashi Surti, Rosanna Abellar, David Bateman, Ashley Wilson, Melinda H. Markham, Jill Slamon, Fernando Santos‐Simarro, María Palomares‐Bralo, Julián Nevado, Pablo Lapunzina, Brian Hon‐Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott Anderson, David R. Kelly, Joseph T.C. Shieh, Taryn C. Rosenthal, Kristin Scheible, Laurie A. Steiner, M. Anwar Iqbal, Margaret L. McKinnon, Sara Hamilton, Kamilla Schlade‐Bartusiak, D. W. English, Glenda Hendson, Elizabeth Roeder, Thomas S. DeNapoli, Rebecca O. Littlejohn, Daynna J. Wolff, Carol L. Wagner, Alison Yeung, David Francis, Elizabeth K. Fiorino, Morris Edelman, Joyce E. Fox, Denise A. Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S. Lay, Jennifer Kussmann, Jasneek Chawla, Diane Payton, Gael E. Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil J. Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw‐Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A. Bacino, Claire Langston, James R. Lupski, Partha Sen, Edwina J. Popek, Paweł Stankiewicz

    Vydáno 2016
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