Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants von Bommireddipalli, Shobhana, Ades, Lesley, Archibald, Alison D., Berman, Yemima, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Engel, Amanda, Ewans, Lisa J., Fennell, Andrew, Freckmann, Mary-Louise, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Harraway, James, Higgins, Megan, Ho, Gladys, Hunter, Matthew F., Joshi, Himanshu, Krzesinski, Emma, Leventer, Richard J., Macaskill, Steven, McCarthy, Hugh J., McLean, Alison, Patel, Chirag, Regan, Matthew, Schindler, Tim, Tantsis, Esther, Tchan, Michel C., van Spaendonck-Zwarts, Karin, White, Susan M., Williams, Mark G., Wright, Dale C., Yap, Patrick, Yeung, Alison, Jones, Kristi J., Cooper, Sandra T., Arts, Peer, Barnett, Christopher, Beshay, Victoria, Blombery, Piers, Boggs, Kirsten, Branford, Susan, Bryen, Samantha J., Canson, Daffodil, Chew, Edward, Chong, Belinda, Chung, Seo-Kyung, Clark, Mike, Compton, Alison, Corbett, Mark, Davis, Mark R., Dudding, Tracy, Ewans, Lisa J., Eyras, Eduardo, Fellowes, Andrew, Field, Michael, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Henderson, Alex, Jackson, Matilda, Jones, Kristi J., Wong, Justin Jong-Leong, Joshi, Himanshu, Krzesinski, Emma, Kumble, Smitha, Laing, Nigel, Lau, Chiyan, Lee, Eric, Lundie, Ben, Mallawaarachchi, Amali, McLean, Alison, Meldrum, Cliff, Mina, Kym, Mowat, David, Oshlack, Alicia, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Ravenscroft, Gina, Regan, Matthew, Ronan, Anne, Sadedin, Simon, Schreiber, Andreas, Scott, Rodney, Simons, Cas, Smyth, Renee, Thompson, Bryony A., Thorburn, David, Trent, Ronald, Tudini, Emma, Wallis, Mathew, Wilson, Meredith J., Winship, Ingrid, Yeung, Alison

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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Reclassifying a LAMP2 Splicing Variant of Uncertain Significance to Pathogenic Following Familial Segregation and Functional RNA Diagnostics von Horton, A., Bournazos, A., Cunningham, F., Regan, M., Hope, S., Macciocca, I., Krzesinski, E., Hunter, M., Cooper, S.

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MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES von Wong, W., Bryen, S., Bournazos, A., Bommireddipall, S., Waddell, L., Menezes, M., Webster, R., Davis, M., Liang, C., Cooper, S., Jones, K.

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MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES: P.323 A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness von Wong, W., Bryen, S., Bournazos, A., Bommireddipall, S., Waddell, L., Menezes, M., Webster, R., Davis, M., Liang, C., Cooper, S., Jones, K.

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing von Cummings, B, Marshall, J, Tukiainen, T, Lek, M, Donkervoort, S, Foley, A, Bolduc, V, Waddell, L, Sandaradura, S, O'Grady, G, Estrella, E, Reddy, H, Zhao, F, Weisburd, B, Karczewski, K, O'Donnell-Luria, A, Birnbaum, D, Sarkozy, A, Hu, Y, Gonorazky, H, Claeys, Kristl, Joshi, H, Bournazos, A, Oates, E, Ghaoui, R, Davis, M, Laing, N, Topf, A, Kang, P, Beggs, A, North, K, Straub, V, Dowling, J, Muntoni, F, Clarke, N, Cooper, S, Bönnemann, C, MacArthur, D

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Congenital titinopathy: comprehensive characterisation & pathogenic insights von Oates, E, Jones, K, Donkervoort, S, Charlton, A, Brammah, S, Smith, J, Ware, J, Yau, K, Swanson, L, Whiffin, N, Peduto, A, Bournazos, A, Waddell, L, Farrar, M, Sampaio, H, Teoh, H, Lamont, P, Mowat, D, Fitzsimmons, R, Corbett, A, Ryan, M, O'Grady, G, Sandaradura, S, Ghaoui, R, Joshi, H, Marshall, J, Nolan, M, Kaur, S, Punetha, J, Topf, A, Harris, E, Bakshi, M, Genetti, C, Marttila, M, Werkauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, J, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, M, Foley, A, Bharucha-Goeber, D, Collins, J, Connolly, A, Gilbreath, H, Iannaccone, S, Castro, D, Cummings, B, Webster, R, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H, Thomas, N, Foulds, N, Illingworth, M, Ellard, S, McLean, C, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Clarke, N, Lek, M, Beggs, A, Bonnemann, C, MacArthur, D, Granzier, H, Davis, M, Laing, N

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing von Cummings, BB, Marshall, JL, Tukiainen, T, Lek, M, Donkervoort, S, Foley, AR, Bolduc, V, Waddell, LB, Sandaradura, SA, O'Grady, GL, Estrella, E, Reddy, HM, Zhao, F, Weisburd, B, Karczewski, KJ, O'Donnell-Luria, AH, Birnbaum, D, Sarkozy, A, Hu, Y, Gonorazky, H, Claeys, K, Joshi, H, Bournazos, A, Oates, EC, Ghaoui, R, Davis, MR, Laing, NG, Topf, A, Kang, PB, Beggs, AH, North, KN, Straub, V, Dowling, JJ, Muntoni, F, Clarke, NF, Cooper, ST, Bonnemann, CG, MacArthur, DG

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The role of IgG Fc receptors in antibody-dependent enhancement von Bournazos, Stylianos, Gupta, Aaron, Ravetch, Jeffrey V.

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Fc-optimized antibodies elicit CD8 immunity to viral respiratory infection von Bournazos, Stylianos, Corti, Davide, Virgin, Herbert W., Ravetch, Jeffrey V.

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Diversification of IgG effector functions von Bournazos, Stylianos, Ravetch, Jeffrey V

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Fcγ Receptor Function and the Design of Vaccination Strategies von Bournazos, Stylianos, Ravetch, Jeffrey V.

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Signaling by Antibodies: Recent Progress von Bournazos, Stylianos, Wang, Taia T, Dahan, Rony, Maamary, Jad, Ravetch, Jeffrey V

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Modulating IgG effector function by Fc glycan engineering von Li, Tiezheng, DiLillo, David J., Bournazos, Stylianos, Giddens, John P., Ravetch, Jeffrey V., Wang, Lai-Xi

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Broadly neutralizing anti-HIV-1 antibodies require Fc effector functions for in vivo activity von Bournazos, Stylianos, Klein, Florian, Pietzsch, John, Seaman, Michael S, Nussenzweig, Michel C, Ravetch, Jeffrey V

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Antibody potency, effector function, and combinations in protection and therapy for SARS-CoV-2 infection in vivo von Schäfer, Alexandra, Muecksch, Frauke, Lorenzi, Julio C C, Leist, Sarah R, Cipolla, Melissa, Bournazos, Stylianos, Schmidt, Fabian, Maison, Rachel M, Gazumyan, Anna, Martinez, David R, Baric, Ralph S, Robbiani, Davide F, Hatziioannou, Theodora, Ravetch, Jeffrey V, Bieniasz, Paul D, Bowen, Richard A, Nussenzweig, Michel C, Sheahan, Timothy P

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SpliceVault predicts the precise nature of variant-associated mis-splicing von Dawes, Ruebena, Bournazos, Adam M., Bryen, Samantha J., Bommireddipalli, Shobhana, Marchant, Rhett G., Joshi, Himanshu, Cooper, Sandra T.

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Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort von Chung, Clara W. T., Bournazos, Adam M., Chan, Lok Chi Denise, Sarkozy, Vanessa, Lawson, John, Kennedy, Sean E., Cooper, Sandra T., Kirk, Edwin P., Mowat, David

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Fcγ receptor pathways during active and passive immunization von Bournazos, Stylianos, Ravetch, Jeffrey V.

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