Resultats de la cerca - Pinner, Jason

Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature per Pinner, Jason R, Freckmann, Mary-Louise, Kirk, Edwin P, Yoshino, Makoto

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AB148. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing per Richmond, Zara, Fleischer, Ron, Chopra, Maya, Pinner, Jason, D’Souza, Mario, Fridgant, Yelena, Hyett, Jon

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

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Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype per Sun, Jun, McGillivray, Angela J, Pinner, Jason, Yan, Zhihui, Liu, Fengxia, Bratkovic, Drago, Thompson, Elizabeth, Wei, Xiuxiu, Jiang, Huifeng, Asan, Chopra, Maya

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

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

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

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

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

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome per Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J., Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, Algar, Elizabeth M.

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

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

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

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

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

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