Not logged in DMPK 3′ untranslated repeat expansions in unexplained sudden cardiac death in the young Ward, Zoe; O'Neill, Jackson; Stiles, Rachael; Phua, Hui Hui; Burcher, Stephanie; Earle, Nikki; Martin, Andrew; Mok, Jia Xin; Crawford, Jackie; Eaton, Jenny; Hogan, Saraya; Worgan, Lisa; Gray, Belinda; Burns, Charlotte; Donoghue, Tom; Stiles, Martin K.; Yeates, Laura; Print, Cristin G.; Hayes, Ian; Skinner, Jonathan R.; Bagnall, Richard D.; Le Quesne Stabej, Polona Share Save
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Probing p-wave superconductivity in UTe2 via point-contact junctions Yoon, Hyeok; Eo, Yun Suk; Park, Jihun; Horn, Jarryd A.; Dorman, Ryan G.; Saha, Shanta R.; Hayes, Ian M.; Takeuchi, Ichiro; Brydon, Philip M. R.; Paglione, Johnpierre Share Save
Absence of a bulk thermodynamic phase transition to a density wave phase in UTe2 Theuss, Florian; Shragai, Avi; Grissonnanche, Gael; Peralta, Luciano; Simarro, Gregorio de la Fuente; Hayes, Ian M.; Saha, Shanta R.; Eo, Yun Suk; Suarez, Alonso; Salinas, Andrea Capa; Pokharel, Ganesh; Wilson, Stephen D.; Butch, Nicholas P.; Paglione, Johnpierre; Ramshaw, B. J. Share Save
Single-component superconductivity in UTe2 at ambient pressure Theuss, Florian; Shragai, Avi; Grissonnanche, Gael; Hayes, Ian M.; Saha, Shanta R.; Eo, Yun Suk; Suarez, Alonso; Shishidou, Tatsuya; Butch, Nicholas P.; Paglione, Johnpierre; Ramshaw, B. J. Share Save
Orphan high field superconductivity in non-superconducting uranium ditelluride Frank, Corey E.; Lewin, Sylvia K.; Salas, Gicela Saucedo; Czajka, Peter; Hayes, Ian M.; Yoon, Hyeok; Metz, Tristin; Paglione, Johnpierre; Singleton, John; Butch, Nicholas P. Share Save
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry Earle, Nikki J.; Winbo, Annika; Crawford, Jackie; Wheeler, Miriam; Stiles, Rachael; Donoghue, Tom; Stiles, Martin K.; Hayes, Ian; Marcondes, Luciana; Martin, Andrew; Skinner, Jonathan R. Share Save
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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism Yap, Patrick; Riley, Lisa G.; Kakadia, Purvi M.; Bohlander, Stefan K.; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T.; Stabej, Polona Le Quesne Share Save
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save
Ubiquitous spin freezing in the superconducting state of UTe2 Sundar, Shyam; Azari, Nasrin; Goeks, Mariah R.; Gheidi, Shayan; Abedi, Mae; Yakovlev, Michael; Dunsiger, Sarah R.; Wilkinson, John M.; Blundell, Stephen J.; Metz, Tristin E.; Hayes, Ian M.; Saha, Shanta R.; Lee, Sangyun; Woods, Andrew J.; Movshovich, Roman; Thomas, Sean M.; Butch, Nicholas P.; Rosa, Priscila F. S.; Paglione, Johnpierre; Sonier, Jeff E. Share Save
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Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants Winbo, Annika; Earle, Nikki; Marcondes, Luciana; Crawford, Jackie; Prosser, Debra O.; Love, Donald R.; Merriman, Tony R.; Cadzow, Murray; Stiles, Rachael; Donoghue, Tom; Stiles, Martin K.; Hayes, Ian; Skinner, Jonathan R. Share Save
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders Abdelfattah, Fatima; Kariminejad, Ariana; Kahlert, AnneKarin; Morrison, Patrick J.; Gumus, Evren; Mathews, Katherine D.; Darbro, Benjamin W.; Amor, David J.; Walsh, Maie; Sznajer, Yves; Weiss, Luisa; Weidensee, Sabine; Chitayat, David; Shannon, Patrick; Bermejo-Sanchez, Eva; Riano-Galan, Isolina; Hayes, Ian; Poke, Gemma; Rooryck, Caroline; Pennamen, Perrine; Khung-Savatovsky, Suonavy; Toutain, Annick; Vuillaume, Marie-Laure; Ghaderi-Sohi, Siavash; Kariminejad, Mohamad H.; Weinert, Soenke; Sticht, Heinrich; Zenker, Martin; Schanze, Denny Share Save
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay Vissers, Lisenka E. L. M.; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L.; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E., V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J.; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G.; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; de Villemeur, Thierry Billette; Nugent, Kimberly; Raymond, F. Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D. Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E.; Murrell, Jill R.; Wood, Kathleen; Cho, Megan T.; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P. M. Share Save
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Spatial nematic fluctuation in BaFe2(As1-xPx)2 revealed by spatially and angle-resolved photoemission spectroscopy Ma, Jonathan; Yi, Ming; Affeldt, Gregory; Hayes, Ian; Jozwiak, Chris; Bostwick, Aaron; Rotenberg, Eli; Analytis, James; Birgeneau, Robert; Lanzara, Alessandra Share Save
Interplay of structure and charge order revealed by quantum oscillations in thin films of Pr2CuO4±δ Breznay, Nicholas P.; Hayes, Ian M.; Nair, Nityan L.; Helm, Toni; Analytis, James G.; McDonald, Ross D.; Zhu, Zengwei; Krockenberger, Yoshiharu; Irie, Hiroshi; Yamamoto, Hideki; Modic, K. A.; Frano, Alex Share Save
Development of a cardiac inherited disease service and clinical registry: A 15-year perspective Earle, Nikki J.; Crawford, Jackie; Hayes, Ian; Rees, Mark I.; French, John; Stiles, Martin K.; Waddell-Smith, Kathryn E.; Donoghue, Tom; Monkley, Rachael; Neas, Katherine; Aitken, Andrew; Tse, Rexson; Love, Donald R.; Skinner, Jonathan R. 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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