50 Years of the steric-blocking mechanism in vertebrate skeletal muscle: a retrospective von Parry, David A. D.

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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions von Heyn, Patricia, Logan, Clare V., Fluteau, Adeline, Challis, Rachel C., Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A., Taglini, Francesca, Kilanowski, Fiona, Parry, David A., Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P., Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C., Reijns, Martin A. M., Dauber, Andrew, Sproul, Duncan, Jackson, Andrew P.

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Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte von Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.

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Mutations in TJP2 cause progressive cholestatic liver disease von Sambrotta, Melissa, Strautnieks, Sandra, Papouli, Efterpi, Rushton, Peter, Clark, Barnaby E, Parry, David A, Logan, Clare V, Newbury, Lucy J, Kamath, Binita M, Ling, Simon, Grammatikopoulos, Tassos, Wagner, Bart E, Magee, John C, Sokol, Ronald J, Mieli-Vergani, Giorgina, Smith, Joshua D, Johnson, Colin A, McClean, Patricia, Simpson, Michael A, Knisely, A S, Bull, Laura N, Thompson, Richard J

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain von Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David

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An experimental model of contusion injury in humans von Barnes, Matthew J, Lomiwes, Dominic, Parry, David A D, Mackintosh, Stephen

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A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection von Reijns, Martin A M, Thompson, Louise, Acosta, Juan Carlos, Black, Holly A, Sanchez-Luque, Francisco J, Diamond, Austin, Parry, David A, Daniels, Alison, O'Shea, Marie, Uggenti, Carolina, Sanchez, Maria C, O'Callaghan, Alan, McNab, Michelle L L, Adamowicz, Martyna, Friman, Elias T, Hurd, Toby, Jarman, Edward J, Chee, Frederic Li Mow, Rainger, Jacqueline K, Walker, Marion, Drake, Camilla, Longman, Dasa, Mordstein, Christine, Warlow, Sophie J, McKay, Stewart, Slater, Louise, Ansari, Morad, Tomlinson, Ian P M, Moore, David, Wilkinson, Nadine, Shepherd, Jill, Templeton, Kate, Johannessen, Ingolfur, Tait-Burkard, Christine, Haas, Jürgen G, Gilbert, Nick, Adams, Ian R, Jackson, Andrew P

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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta von Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.

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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia von Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letourneau, Audrey, Logan, Clare V., Roberts, Nicola, Parry, David A., Johnson, Colin A., Matsumoto, Naomichi, Hamamy, Hanan, Sheridan, Eamonn, Kinoshita, Taroh, Antonarakis, Stylianos E., Murakami, Yoshiko

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The role of primary cilia in the development and disease of the retina von Wheway, Gabrielle, Parry, David A, Johnson, Colin A

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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta von Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma von Ali, Manir, McKibbin, Martin, Booth, Adam, Parry, David A., Jain, Payal, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Khan, Shaheen N., Firasat, Sabika, Shires, Mike, Gilmour, David F., Towns, Katherine, Murphy, Anna-Louise, Azmanov, Dimitar, Tournev, Ivailo, Cherninkova, Sylvia, Jafri, Hussain, Raashid, Yasmin, Toomes, Carmel, Craig, Jamie, Mackey, David A., Kalaydjieva, Luba, Riazuddin, Sheikh, Inglehearn, Chris F.

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New consensus nomenclature for mammalian keratins von Schweizer, Jürgen, Bowden, Paul E, Coulombe, Pierre A, Langbein, Lutz, Lane, E. Birgitte, Magin, Thomas M, Maltais, Lois, Omary, M. Bishr, Parry, David A.D, Rogers, Michael A, Wright, Mathew W

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The Keratins of the Human Beard Hair Medulla: The Riddle in the Middle von Langbein, Lutz, Yoshida, Hiroshi, Praetzel-Wunder, Silke, Parry, David A., Schweizer, Juergen

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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration von Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui

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Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism von Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Phillis, Sergouniotis, Panagiotis I., Webster, Andrew R., Moore, Anthony T., Pal, Bishwanath, Mohamed, Moin D., Venkataramana, Anandula, Ramprasad, Vedam, Shetty, Rohit, Saktivel, Murugan, Kumaramanickavel, Govindasamy, Tan, Alex, Mackey, David A., Hewitt, Alex W., Banfi, Sandro, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel

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Follicular regulatory T cells eliminate HIV-1-infected follicular helper T cells in an IL-2 concentration dependent manner von Ollerton, Matthew T, Folkvord, Joy M, La Mantia, Andriana, Parry, David A, Meditz, Amie L, McCarter, Martin D, D'Aquila, Richard T, Connick, Elizabeth

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A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency von Parry, David A., PhD, Holmes, Tim D., PhD, Gamper, Nikita, PhD, El-Sayed, Walid, BDS, PhD, Hettiarachchi, Nishani T., PhD, Ahmed, Mushtaq, PhD, Cook, Graham P., PhD, Logan, Clare V., PhD, Johnson, Colin A., PhD, Joss, Shelagh, MRCP, Peers, Chris, PhD, Prescott, Katrina, FRCP, Savic, Sinisa, FRCP, PhD, Inglehearn, Chris F., PhD, Mighell, Alan J., FDSRCS, PhD

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Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease von Duker, Angela L, Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M, Thompson, Louise, Parry, David A, Carroll, Ricki S, Bober, Michael B

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Localisation of keratin K78 in the basal layer and first suprabasal layers of stratified epithelia completes expression catalogue of type II keratins and provides new insights into... von Langbein, Lutz, Eckhart, Leopold, Fischer, Heinz, Rogers, Michael A., Praetzel-Wunder, Silke, Parry, David A. D., Kittstein, Walter, Schweizer, Juergen

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