The role of episcleral venous pressure in glaucoma associated with Sturge-Weber syndrome von Shiau, Tiffany, MHS, Armogan, Narendra, MD, FRCS, Yan, David B., MD, FRCS, Thomson, Hugh G., MD, FRCSC, Levin, Alex V., MD, MHSc

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Ocular manifestations of the Johanson-Blizzard syndrome von Cheung, Jason C., MD, FRCSC, Thomson, Hugh, MD, FRCSC, Buncic, J. Raymond, MD, FRCSC, Héon, Elise, MD, FRCSC, Levin, Alex V., MD, MHSc, FRCSC

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FUEL FEEDING APPARATUS von HUGH M. THOMSON, CHARLES E. MUDIE

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy von Mazzarotto, Francesco, Tayal, Upasana, Buchan, Rachel J., Midwinter, William, Wilk, Alicja, Whiffin, Nicola, Govind, Risha, Mazaika, Erica, de Marvao, Antonio, Dawes, Timothy J.W., Felkin, Leanne E., Ahmad, Mian, Theotokis, Pantazis I., Edwards, Elizabeth, Ing, Alexander Y., Thomson, Kate L., Chan, Laura L.H., Sim, David, Baksi, A. John, Pantazis, Antonis, Roberts, Angharad M., Watkins, Hugh, Funke, Birgit, O’Regan, Declan P., Olivotto, Iacopo, Barton, Paul J.R., Prasad, Sanjay K., Cook, Stuart A., Ware, James S., Walsh, Roddy

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... von Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective von Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.

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Persistent serum protein signatures define an inflammatory subcategory of long COVID von Talla, Aarthi, Vasaikar, Suhas V., Szeto, Gregory Lee, Lemos, Maria P., Czartoski, Julie L., MacMillan, Hugh, Moodie, Zoe, Cohen, Kristen W., Fleming, Lamar B., Thomson, Zachary, Okada, Lauren, Becker, Lynne A., Coffey, Ernest M., De Rosa, Stephen C., Newell, Evan W., Skene, Peter J., Li, Xiaojun, Bumol, Thomas F., Juliana McElrath, M., Torgerson, Troy R.

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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy von Walsh, Roddy, Mazzarotto, Francesco, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Li, Nicholas, Felkin, Leanne, Ingold, Nathan, Govind, Risha, Ahmad, Mian, Mazaika, Erica, Allouba, Mona, Zhang, Xiaolei, de Marvao, Antonio, Day, Sharlene M, Ashley, Euan, Colan, Steven D, Michels, Michelle, Pereira, Alexandre C, Jacoby, Daniel, Ho, Carolyn Y, Thomson, Kate L, Watkins, Hugh, Barton, Paul J R, Olivotto, Iacopo, Cook, Stuart A, Ware, James S

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Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry von Neubauer, Stefan, Kolm, Paul, Ho, Carolyn Y., Kwong, Raymond Y., Desai, Milind Y., Dolman, Sarahfaye F., Appelbaum, Evan, Desvigne-Nickens, Patrice, DiMarco, John P., Friedrich, Matthias G., Geller, Nancy, Harper, Andrew R., Jarolim, Petr, Jerosch-Herold, Michael, Kim, Dong-Yun, Maron, Martin S., Schulz-Menger, Jeanette, Piechnik, Stefan K., Thomson, Kate, Zhang, Cheng, Watkins, Hugh, Weintraub, William S., Kramer, Christopher M., Mahmod, Masliza, Jacoby, Daniel, White, James, Chiribiri, Amedeo, Helms, Adam, Choudhury, Lubna, Michels, Michelle, Bradlow, William, Salerno, Michael, Heitner, Stephen, Prasad, Sanjay, Mohiddin, Saidi, Swoboda, Peter, Mahrholdt, Heiko, Bucciarelli-Ducci, Chiara, Weinsaft, Jonathan, Kim, Han, McCann, Gerry, van Rossum, Albert, Williamson, Eric, Flett, Andrew, Dawson, Dana, Mongeon, F. Pierre, Olivotto, Iacopo, Crean, Andrew, Owens, Anjali, Anderson, Lisa, Biagini, Elena, Newby, David, Berry, Colin, Kim, Bette, Larose, Eric, Abraham, Theodore, Sherrid, Mark, Nagueh, Sherif, Rimoldi, Ornella, Elstein, Eleanor, Autore, Camillo

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Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff von Boyle, Gabriel E, Sitko, Katherine A, Galloway, Jared G, Haddox, Hugh K, Bianchi, Aisha Haley, Dixon, Ajeya, Wheelock, Melinda K, Vandi, Allyssa J, Wang, Ziyu R, Thomson, Raine E S, Garge, Riddhiman K, Rettie, Allan E, Rubin, Alan F, Geck, Renee C, Gillam, Elizabeth M J, DeWitt, William S, Matsen, 4th, Frederick A, Fowler, Douglas M

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Bridging the Gap Between ECG Indicators of Arrhythmic Risk and the Continuum of Myocardial Disarray and Fibrosis Across Hypertrophic Cardiomyopathy Stages von Ashkir, Zakariye, Samat, Azlan Abd, Finnigan, Lucy, Jermy, Stephen, Sarto, Gianmarco, Murthy, Priyanka, Wong, Barbara, Wicks, Eleanor, Thomson, Kate, Mahmod, Masliza, Ariga, Rina, Tunnicliffe, Elizabeth, Watkins, Hugh, Neubauer, Stefan, Raman, Betty

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Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease von Rannikmäe, Kristiina, Davies, Gail, Thomson, Pippa A, Bevan, Steve, Devan, William J, Falcone, Guido J, Traylor, Matthew, Anderson, Christopher D, Battey, Thomas W.K, Radmanesh, Farid, Deka, Ranjan, Woo, Jessica G, Martin, Lisa J, Jimenez-Conde, Jordi, Selim, Magdy, Brown, Devin L, Silliman, Scott L, Kidwell, Chelsea S, Montaner, Joan, Langefeld, Carl D, Slowik, Agnieszka, Hansen, Björn M, Lindgren, Arne G, Meschia, James F, Fornage, Myriam, Bis, Joshua C, Debette, Stéphanie, Ikram, Mohammad A, Longstreth, Will T, Schmidt, Reinhold, Zhang, Cathy R, Yang, Qiong, Sharma, Pankaj, Kittner, Steven J, Mitchell, Braxton D, Holliday, Elizabeth G, Levi, Christopher R, Attia, John, Rothwell, Peter M, Poole, Deborah L, Boncoraglio, Giorgio B, Psaty, Bruce M, Malik, Rainer, Rost, Natalia, Worrall, Bradford B, Dichgans, Martin, Van Agtmael, Tom, Woo, Daniel, Markus, Hugh S, Seshadri, Sudha, Rosand, Jonathan, Sudlow, Cathie L.M

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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity von Harper, Andrew R., Goel, Anuj, Grace, Christopher, Thomson, Kate L., Petersen, Steffen E., Xu, Xiao, Waring, Adam, Ormondroyd, Elizabeth, Kramer, Christopher M., Ho, Carolyn Y., Neubauer, Stefan, Tadros, Rafik, Ware, James S., Bezzina, Connie R., Farrall, Martin, Watkins, Hugh

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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series von Taylor, John, Craft, Jude, Blair, Edward, Wordsworth, Sarah, Beeson, David, Chandratre, Saleel, Cossins, Judith, Lester, Tracy, Németh, Andrea H, Ormondroyd, Elizabeth, Patel, Smita Y, Pagnamenta, Alistair T, Taylor, Jenny C, Thomson, Kate L, Watkins, Hugh, Wilkie, Andrew O M, Knight, Julian C

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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements von Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine

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Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene von Coleman, Michael P, Mack, Till G.A, Reiner, Michael, Beirowski, Bogdan, Mi, Weiqian, Emanuelli, Monica, Wagner, Diana, Thomson, Derek, Gillingwater, Tom, Court, Felipe, Conforti, Laura, Fernando, F. Shama, Tarlton, Andrea, Andressen, Christian, Addicks, Klaus, Magni, Giulio, Ribchester, Richard R, Perry, V. Hugh

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Rapidly growing mycobacteria associated with laparoscopic gastric banding, Australia, 2005-2011 von Wright, Hugh L, Thomson, Rachel M, Reid, Alistair B, Carter, Robyn, Bartley, Paul B, Newton, Peter, Coulter, Christopher

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The Adelaide Score: prospective implementation of an artificial intelligence system to improve hospital and cost efficiency von Kovoor, Joshua G, Stretton, Brandon, Gupta, Aashray K, Beath, Alexander, Jacob, Mathew O, Kefalianos, John M, Carmichael, Gavin J, Zaka, Ammar, O'Callaghan, Gerry, Satheakeerthy, Shrirajh, Booth, Andrew, Delloso, Thomson, Hugh, Thomas J, Chan, Weng Onn, Maddern, Guy J, Balan-Vnuk, Eva, Cusack, Michael, Gilbert, Toby, Maddison, John, Bacchi, Stephen

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Genetic variants in or near ADH1B and ADH1C affect susceptibility to alcohol dependence in a British and Irish population von Way, Michael, McQuillin, Andrew, Saini, Jit, Ruparelia, Kush, Lydall, Gregory J., Guerrini, Irene, Ball, David, Smith, Iain, Quadri, Giorgia, Thomson, Allan D., Kasiakogia-Worlley, Katherine, Cherian, Raquin, Gunwardena, Priyanthi, Rao, Harish, Kottalgi, Girija, Patel, Shamir, Hillman, Audrey, Douglas, Ewen, Qureshi, Sherhzad Y., Reynolds, Gerry, Jauhar, Sameer, O'Kane, Aideen, Dedman, Alex, Sharp, Sally, Kandaswamy, Radhika, Dar, Karim, Curtis, David, Morgan, Marsha Y., Gurling, Hugh M. D.

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EUREC4A von Bony, Sandrine, Farrell, David, Ament, Felix, Fairall, Christopher, Quinn, Patricia K, Bodenschatz, Eberhard, Chewitt-Lucas, Rebecca, Delanoë, Julien, Denby, Leif, de, Marvin, Hausold, Andrea, Kölling, Tobias, Roberts, Gregory, Schnitt, Sabrina, Siebesma, A Pier, Vial, Jessica, Zuidema, Paquita, Alves, Lyndon, Sophian Arixi, Bailey, Adriana, Baranowski, Dariusz, Baron, Alexandre, Barrau, Sébastien, Behrendt, Andreas, Bourras, Denis, Bower, Keith, Branellec, Pierre, Chen, Yanxu, Clarke, Shamal, Crewell, Susanne, Cronin, Timothy, Cuypers, Yannis, Dauhut, Thibaut, Hartwig Deneke, Donner, Sebastian, Ehrlich, André, Etienne, Jean-Claude, Fix, Andreas, Flatau, Piotr Jacek, Furtuna, Iulian, Galewsky, Joseph, Gentemann, Chelle, Giez, Andreas, Gollop, John, Gourbeyre, Christophe, de Graaf, Dörte, de Groot, Geiske E, Grosz, Robert, Güttler, Johannes, Gutleben, Manuel, Helfer, Kevin C, Holanda, Bruna, Ibanez-Landeta, Antonio, Körner, Mareike, Kretzschmar, Jan, Kumala, Wojciech, L'Hégaret, Pierre, Labaste, Matthieu, Landschützer, Peter, Lang, Theresa, Lange, Ingo, Lavik, Gauke, Caroline Le Bihan, Lena, Marius, Li, Qiang, Los, Sebastian, Losi, Niccolò, Makuch, Przemyslaw, Malinowski, Szymon, Mayers-Als, Margarette, Mehlmann, Melina, Neuberger, Almuth, Oswald, Lothar, Parker, Douglas J, Peck, Carolyn, Person, Renaud, Philippi, Miriam, Plueddemann, Albert, Posyniak, Michał, Ramage, Karim, Reus, Klaus, Rocha, Cesar B, Rochetin, Nicolas, Röttenbacher, Johannes, Saffin, Leo, Sandiford, Sanola, Schäfer, Michael, Schirmacher, Imke, Schlenczek, Oliver, Schmidt, Jerome, Senff, Christoph J, Smirnov, Alexander, Späth, Florian, Spooner, Branden, Thompson, Elizabeth, Walther, Andi, Wiltshire, Anton, Wing, Allison A, Zhang, Chidong, Zinner, Tobias

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