Not logged in Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort 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 Share Save
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production Ebstein, Frederic; Kuery, Sebastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M.; Besrard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M. W.; Vignard, Virginie; van Jaarsveld, Richard H.; Ades, Lesley; Cogne, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C. J.; Cole, F. Sessions; van den Boogaard, Marie-Jose H.; Wambach, Jennifer A.; Wegner, Daniel J.; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gelineau, Anne-Claire; Powis, Zoee; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E.; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T.; Osmond, Matthew; Wheeler, Patricia G.; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Genevieve; Barcia, Giulia; Feichtinger, Rene Guenther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frederic; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Voelker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E.; Elgersma, Ype; Hildebrand, Peter W.; Bolduc, Francois; Krueger, Elke; Bezieau, Stephane Share Save
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues Smits, Daphne J. J.; Schot, Rachel; Popescu, Cristiana A. A.; Dias, Kerith-Rae; Ades, Lesley; Briere, Lauren C. C.; Sweetser, David A. A.; Kushima, Itaru; Aleksic, Branko; Khan, Suliman; Karageorgou, Vasiliki; Ordonez, Natalia; Sleutels, Frank J. G. T.; van der Kaay, Danielle C. M.; Van Mol, Christine; Van Esch, Hilde; Bertoli-Avella, Aida M. M.; Roscioli, Tony; Mancini, Grazia M. S. Share Save
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders Evesson, Frances J.; Dziaduch, Gregory; Bryen, Samantha J.; Moore, Francesca; Pittman, Sara; Devanapalli, Beena; Waddell, Leigh B.; Ryan, Monique M.; Menezes, Manoj P.; Weihl, Conrad C.; Tolun, Adviye Ayper; Zaidman, Craig; Young, Helen; Ades, Lesley C.; Cooper, Sandra T. Share Save
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 Share Save
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants 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. Share Save
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Iqbal, Maria; Maroofian, Reza; Cavdarli, Busranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K.; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; de Almeida, Tobias Scherf; Molinari, Florence; Mignon-Ravix, Cecile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T.; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A.; Budde, Birgit; Altmueller, Janine; Motameny, Susanne; Hoehne, Wolfgang; Houlden, Henry; Nuernberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gokhan Share Save
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 Share Save
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J. Guillen; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J. Share Save
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations Regalado, Ellen S.; Mellor-Crummey, Lauren; De Backer, Julie; Braverman, Alan C.; Ades, Lesley; Benedict, Susan; Bradley, Timothy J.; Brickner, M. Elizabeth; Chatfield, Kathryn C.; Child, Anne; Feist, Cori; Holmes, Kathryn W.; Iannucci, Glen; Lorenz, Birgit; Mark, Paul; Morisaki, Takayuki; Morisaki, Hiroko; Morris, Shaine A.; Mitchell, Anna L.; Ostergaard, John R.; Richer, Julie; Sallee, Denver; Shalhub, Sherene; Tekin, Mustafa; Estrera, Anthony; Musolino, Patricia; Yetman, Anji; Pyeritz, Reed; Milewicz, Dianna M. Share Save
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins, Felicity; Chopra, Maya; Gregersen, Nerine; Hayes, Ian; Rajagopalan, Sulekha; Tan, Tiong Yang; Stark, Zornitza; Savarirayan, Ravi; Yeung, Alison; Ades, Lesley; Gattas, Michael; Gibson, Kate; Gabbett, Michael; Amor, David John; Lattanzi, Wanda; Boyd, Simeon; Haan, Eric; Gianoutsos, Mark; Cox, Timothy Chilton; Buckley, Michael Francis; Roscioli, Tony Share Save
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia Wade, Emma M.; Daniel, Philip B.; Jenkins, Zandra A.; McInerney-Leo, Aideen; Leo, Paul; Morgan, Tim; Addor, Marie Claude; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; Duba, Hans-Christoph; Fletcher, Elaine; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Superti-Furga, Andrea; Veenstra-Knol, Irma; Wieczorek, Dagmar; Wilson, Louise C.; Hennekam, Raoul C. M.; Sutherland-Smith, Andrew J.; Strom, Tim M.; Wilkie, Andrew O. M.; Brown, Matthew A.; Duncan, Emma L.; Markie, David M.; Robertson, Stephen P. Share Save
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey (vol 36, pg 220, 2016) Briggs, Tracy A.; Rice, Gillian I.; Adib, Navid; Ades, Lesley; Barete, Stephane; Baskar, Kannan; Baudouin, Veronique; Cebeci, Ayse N.; Clapuyt, Philippe; Coman, David; De Somer, Lien; Finezilber, Yael; Frydman, Moshe; Guven, Ayla; Heritier, Sebastien; Karall, Daniela; Kulkarni, Muralidhar L.; Lebon, Pierre; Levitt, David; Le Merrer, Martine; Linglart, Agnes; Livingston, John H.; Navarro, Vincent; Okenfuss, Ericka; Puel, Anne; Revencu, Nicole; Scholl-Buergi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. Share Save
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey Briggs, Tracy A.; Rice, Gillian I.; Adib, Navid; Ades, Lesley; Barete, Stephane; Baskar, Kannan; Baudouin, Veronique; Cebeci, Ayse N.; Clapuyt, Philippe; Coman, David; De Somer, Lien; Finezilber, Yael; Frydman, Moshe; Guven, Ayla; Heritier, Sebastien; Karall, Daniela; Kulkarni, Muralidhar L.; Lebon, Pierre; Levitt, David; Le Merrer, Martine; Linglart, Agnes; Livingston, John H.; Navarro, Vincent; Okenfuss, Ericka; Puel, Anne; Revencu, Nicole; Scholl-Burgi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. Share Save
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine Zentner, Dominica; Thompson, Tina N.; James, Paul A.; Trainer, Alison; Ades, Lesley C.; Macciocca, Ivan; Taylor, Jessica A.; Mann, Kirsty; Bogwitz, Michael; Lewis, Nigel; Morgan, Natalie; Vohra, Jitendra; Winship, Ingrid Share Save
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency Murray, Jennie E.; Bicknell, Louise S.; Yigit, Goekhan; Duker, Angela L.; van Kogelenberg, Margriet; Haghayegh, Sara; Wieczorek, Dagmar; Kayserili, Huelya; Albert, Michael H.; Wise, Carol A.; Brandon, January; Kleefstra, Tjitske; Warris, Adilia; van der Flier, Michiel; Bamforth, J. Steven; Doonanco, Kurston; Ades, Lesley; Ma, Alan; Field, Michael; Johnson, Diana; Shackley, Fiona; Firth, Helen; Woods, C. Geoffrey; Nuernberg, Peter; Gatti, Richard A.; Hurles, Matthew; Bober, Michael B.; Wollnik, Bernd; Jackson, Andrew P. Share Save
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation Revencu, Nicole; Boon, Laurence M.; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josee; Clapuyt, Philippe; Hammer, Frank; Amor, David J.; Irvine, Alan D.; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin-Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R.; Burrows, Patricia E.; Blei, Francine; Cozzolino, Mariarosaria; Brunetti-Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; Desir, Julie; Vilain, Catheline; Chung, Wendy K.; Wilson, Ashley; Gardiner, Carol A.; Dwight, Yim; Lord, David J. E.; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria Del C.; Leaute-Labreze, Christine; Delrue, Marie-Ange; Bayliss, Susan; Martorell, Loreto; Gonzalez-Ensenat, Maria-Antonia; Mazereeuw-Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E.; Salhi, Aicha; Tan, Oon T.; Wargon, Orli; Mulliken, John B.; Vikkula, Miikka Share Save
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome Carmignac, Virginie; Thevenon, Julien; Ades, Lesley; Callewaert, Bert; Julia, Sophie; Thauvin-Robinet, Christel; Gueneau, Lucie; Courcet, Jean-Benoit; Lopez, Estelle; Holman, Katherine; Renard, Marjolijn; Plauchu, Henri; Plessis, Ghislaine; De Backer, Julie; Child, Anne; Arno, Gavin; Duplomb, Laurence; Callier, Patrick; Aral, Bernard; Vabres, Pierre; Gigot, Nadege; Arbustini, Eloisa; Grasso, Maurizia; Robinson, Peter N.; Goizet, Cyril; Baumann, Clarisse; Di Rocco, Maja; Sanchez Del Pozo, Jaime; Huet, Frederic; Jondeau, Guillaume; Collod-Beroud, Gwenaelle; Beroud, Christophe; Amiel, Jeanne; Cormier-Daire, Valerie; Riviere, Jean-Baptiste; Boileau, Catherine; De Paepe, Anne; Faivre, Laurence Share Save
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