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Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy van der Sluijs, Pleuntje J.; Moutton, Sebastien; Dingemans, Alexander J. M.; Weis, Denisa; Levy, Michael A.; Boycott, Kym M.; Arberas, Claudia; Baldassarri, Margherita; Beneteau, Claire; Brusco, Alfredo; Coutton, Charles; Dabir, Tabib; Dentici, Maria L.; Devriendt, Koenraad; Faivre, Laurence; Haelst, Mieke M. van; Jizi, Khadije; Kempers, Marlies J.; Kerkhof, Jennifer; Kharbanda, Mira; Lachlan, Katherine; Marle, Nathalie; Mcconkey, Haley; Mencarelli, Maria A.; Mowat, David.; Niceta, Marcello; Nicolas, Claire; Novelli, Antonio; Orlando, Valeria; Pichon, Olivier; Rankin, Julia; Relator, Raissa.; Ropers, Fabienne G.; Rosenfeld, Jill A.; Sachdev, Rani; Sandaradura, Sarah A.; Shukarova-Angelovska, Elena; Steenbeek, Duco; Tartaglia, Marco; Tedder, Matthew A.; Trajkova, Slavica; Winer, Norbert; Woods, Jeremy; de Vries, Bert B. A.; Sadikovic, Bekim; Alders, Marielle; Santen, Gijs W. E. 分享 收藏
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort 缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析 Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony 分享 收藏
The role of exome sequencing in childhood interstitial or diffuse lung disease Temple, Suzanna E. L.; Ho, Gladys; Bennetts, Bruce; Boggs, Kirsten; Vidic, Nada; Mowat, David; Christodoulou, John; Schultz, Andre; Gayagay, Thet; Roscioli, Tony; Zhu, Ying; Lunke, Sebastian; Armstrong, David; Harrison, Joanne; Kapur, Nitin; McDonald, Tim; Selvadurai, Hiran; Tai, Andrew; Stark, Zornitza; Jaffe, Adam 分享 收藏
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis Ewans, Lisa J.; Minoche, Andre E.; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Ades, Lesley C.; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P.; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F.; Cowley, Mark J.; Dinger, Marcel E.; Roscioli, Tony 分享 收藏
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Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life Kelada, Lauren; Wakefield, Claire; Vidic, Nada; Armstrong, David S.; Bennetts, Bruce; Boggs, Kirsten; Christodoulou, John; Harrison, Joanne; Ho, Gladys; Kapur, Nitin; Lindsey-Temple, Suzanna; McDonald, Tim; Mowat, David; Schultz, Andre; Selvadurai, Hiran; Tai, Andrew; Jaffe, Adam 分享 收藏
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants 使用临床可获得的标本进行RNA诊断的标准化实践重新分类了推定的剪接变体的75% Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen, I; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; Van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T. 分享 收藏
Clinically Responsive Genomic Analysis Pipelines Elements to Improve Detection Rate and Efficiency Sundercombe, Samantha Leigh; Berbic, Marina; Evans, Carey-Anne; Cliffe, Corrina; Elakis, George; Temple, Suzanna E. L.; Selvanathan, Arthavan; Ewans, Lisa; Quayum, Nila; Nixon, Cheng-Yee; Dias, Kerith-Rae; Lang, Sarah; Richards, Anna; Goh, Shuxiang; Wilson, Meredith; Mowat, David; Sachdev, Rani; Sandaradura, Sarah; Walsh, Maie; Farrar, Michelle A.; Walsh, Rebecca; Fletcher, Janice; Kirk, Edwin P.; Teunisse, Guus M.; Scho, Deborah; Buckley, Michael Francis; Zhu, Ying; Roscioli, Tony 分享 收藏
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uira Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; Sampaio, Hugo; Andrews, Peter Ian; Lawson, John; Cardamone, Michael; Mowat, David; Colley, Alison; Kummerfeld, Sarah; Dinger, Marcel E.; Cowley, Mark J.; Roscioli, Tony; Bye, Ann; Kirk, Edwin 分享 收藏
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan, Michel C.; Mowat, David R.; Oates, Emily C.; Farrar, Michelle A.; Sampaio, Hugo; Ma, Alan; Neas, Katherine; Wang, Min-Xia; Charlton, Amanda; Chan, Charles; Kenwright, Diane N.; Graf, Nicole; Arbuckle, Susan; Clarke, Nigel F.; MacArthur, Daniel G.; Jones, Kristi J.; Lek, Monkol; Cooper, Sandra T. 分享 收藏
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System 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.; Ades, 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 分享 收藏
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants Zhang, Li Xin; Lemire, Gabrielle; Gonzaga-Jauregui, Claudia; Molidperee, Sirinart; Galaz-Montoya, Carolina; Liu, David S.; Verloes, Alain; Shillington, Amelle G.; Izumi, Kosuke; Ritter, Alyssa L.; Keena, Beth; Zackai, Elaine; Li, Dong; Bhoj, Elizabeth; Tarpinian, Jennifer M.; Bedoukian, Emma; Kukolich, Mary K.; Innes, A. Micheil; Ediae, Grace U.; Sawyer, Sarah L.; Nair, Karippoth Mohandas; Soumya, Para Chottil; Subbaraman, Kinattinkara R.; Probst, Frank J.; Bassetti, Jennifer A.; Sutton, Reid, V; Gibbs, Richard A.; Brown, Chester; Boone, Philip M.; Holm, Ingrid A.; Tartaglia, Marco; Ferrero, Giovanni Battista; Niceta, Marcello; Dentici, Maria Lisa; Radio, Francesca Clementina; Keren, Boris; Wells, Constance F.; Coubes, Christine; Laquerriere, Annie; Aziza, Jacqueline; Dubucs, Charlotte; Nampoothiri, Sheela; Mowat, David; Patel, Milian S.; Bracho, Ana; Cammarata-Scalisi, Francisco; Gezdirici, Alper; Fernandez-Jaen, Alberto; Hauser, Natalie; Zarate, Yuri A.; Bosanko, Katherine A.; Dieterich, Klaus; Carey, John C.; Chong, Jessica X.; Nickerson, Deborah A.; Bamshad, Michael J.; Lee, Brendan H.; Yang, Xiang-Jiao; Lupski, James R.; Campeau, Philippe M. 分享 收藏
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System 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.; Ades, 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 分享 收藏
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Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Karolak, Justyna A.; Liu, Qian; Xie, Nina G.; Wu, Lucia R.; Rocha, Gustavo; Fernandes, Susana; Ho-Ming, Luk; Lo, Ivan F.; Mowat, David; Fiorino, Elizabeth K.; Edelman, Morris; Fox, Joyce; Hayes, Denise A.; Witte, David; Parrott, Ashley; Popek, Edwina; Szafranski, Przemyslaw; Zhang, David Y.; Stankiewicz, Pawel 分享 收藏
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement Donkervoort, S.; Sabouny, R.; Yun, P.; Gauquelin, L.; Chao, K. R.; Hu, Y.; Al Khatib, I; Topf, A.; Mohassel, P.; Cummings, B. B.; Kaur, R.; Saade, D.; Moore, S. A.; Waddell, L. B.; Farrar, M. A.; Goodrich, J. K.; Uapinyoying, P.; Chan, S. H. S.; Javed, A.; Leach, M. E.; Karachunski, P.; Dalton, J.; Medne, L.; Harper, A.; Thompson, C.; Thiffault, I; Specht, S.; Lamont, R. E.; Saunders, C.; Racher, H.; Bernier, F. P.; Mowat, D.; Witting, N.; Vissing, J.; Hanson, R.; Coffman, K. A.; Hainlen, M.; Parboosingh, J. S.; Carnevale, A.; Yoon, G.; Schnur, R. E.; Boycott, K. M.; Mah, J. K.; Straub, V; Foley, A. Reghan; Innes, A. M.; Bonnemann, C. G.; Shutt, T. E. 分享 收藏
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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Mueller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Huebner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Koelbel, Heike 分享 收藏
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