Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage von Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Carpenter, Stirling, Canafoglia, Laura, Morbin, Michela, Rossi, Giacomina, Pareyson, Davide, Mole, Sara E., Staropoli, John F., Sims, Katherine B., Lewis, Jada, Lin, Wen-Lang, Dickson, Dennis W., Dahl, Hans-Henrik, Bahlo, Melanie, Berkovic, Samuel F.

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels von Martin, Antonio Rueda, Williams, Eleanor, Foulger, Rebecca E., Leigh, Sarah, Daugherty, Louise C., Niblock, Olivia, Leong, Ivone U. S., Smith, Katherine R., Gerasimenko, Oleg, Haraldsdottir, Eik, Thomas, Ellen, Scott, Richard H., Baple, Emma, Tucci, Arianna, Brittain, Helen, de Burca, Anna, Ibañez, Kristina, Kasperaviciute, Dalia, Smedley, Damian, Caulfield, Mark, Rendon, Augusto, McDonagh, Ellen M.

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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS von Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.

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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy von Heron, Sarah E, Smith, Katherine R, Bahlo, Melanie, Nobili, Lino, Kahana, Esther, Licchetta, Laura, Oliver, Karen L, Mazarib, Aziz, Afawi, Zaid, Korczyn, Amos, Plazzi, Giuseppe, Petrou, Steven, Berkovic, Samuel F, Scheffer, Ingrid E, Dibbens, Leanne M

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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features von Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian

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DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome von Ollikainen, Miina, Smith, Katherine R., Joo, Eric Ji-Hoon, Ng, Hong Kiat, Andronikos, Roberta, Novakovic, Boris, Abdul Aziz, Nur Khairunnisa, Carlin, John B., Morley, Ruth, Saffery, Richard, Craig, Jeffrey M.

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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 von Booth, Kevin T., Askew, James W., Talebizadeh, Zohreh, Huygen, Patrick L. M., Eudy, James, Kenyon, Judith, Hoover, Denise, Hildebrand, Michael S., Smith, Katherine R., Bahlo, Melanie, Kimberling, William J., Smith, Richard J. H., Azaiez, Hela, Smith, Shelley D.

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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 von Arsov, Todor, Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Canafoglia, Laura, Bromhead, Catherine J., Andermann, Eva, Vears, Danya F., Cossette, Patrick, Rajagopalan, Sulekha, McDougall, Alan, Sofia, Vito, Farrell, Michael, Aguglia, Umberto, Zini, Andrea, Meletti, Stefano, Morbin, Michela, Mullen, Saul, Andermann, Frederick, Mole, Sara E., Bahlo, Melanie, Berkovic, Samuel F.

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Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1 von Guergueltcheva, Velina, Azmanov, Dimitar N., Angelicheva, Dora, Smith, Katherine R., Chamova, Teodora, Florez, Laura, Bynevelt, Michael, Nguyen, Thai, Cherninkova, Sylvia, Bojinova, Veneta, Kaprelyan, Ara, Angelova, Lyudmila, Morar, Bharti, Chandler, David, Kaneva, Radka, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba

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Importance of Volume and Concentration for Ropivacaine Interscalene Block in Preventing Recovery Room Pain and Minimizing Motor Block after Shoulder Surgery von FREDRICKSON, Michael J, SMITH, Katherine R, WONG, Andrew C

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Structurally conserved erythrocyte-binding domain in Plasmodium provides a versatile scaffold for alternate receptor engagement von Gruszczyk, Jakub, Lim, Nicholas T. Y., Arnott, Alicia, He, Wen-Qiang, Nguitragool, Wang, Roobsoong, Wanlapa, Mok, Yee-Foong, Murphy, James M., Smith, Katherine R., Lee, Stuart, Bahlo, Melanie, Mueller, Ivo, Barry, Alyssa E., Tham, Wai-Hong

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome von Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.

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Prenatal probiotic administration can influence Bifidobacterium microbiota development in infants at high risk of allergy von Lahtinen, Sampo J., PhD, Boyle, Robert J., MB ChB, Kivivuori, Satu, MSc, Oppedisano, Frances, BSc, Smith, Katherine R., BSc (Hons), Robins-Browne, Roy, MBBCh, PhD, Salminen, Seppo J., PhD, Tang, Mimi L.K., MBBS, PhD

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Effects of natural and anthropogenic change on habitat use and movement of endangered salt marsh harvest mice von Smith, Katherine R, Barthman-Thompson, Laureen, Gould, William R, Mabry, Karen E

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Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes von Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie

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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder von Kumar, Raman, Corbett, Mark A, Smith, Nicholas J C, Jolly, Lachlan A, Tan, Chuan, Keating, Damien J, Duffield, Michael D, Utsumi, Toshihiko, Moriya, Koko, Smith, Katherine R, Hoischen, Alexander, Abbott, Kim, Harbord, Michael G, Compton, Alison G, Woenig, Joshua A, Arts, Peer, Kwint, Michael, Wieskamp, Nienke, Gijsen, Sabine, Veltman, Joris A, Bahlo, Melanie, Gleeson, Joseph G, Haan, Eric, Gecz, Jozef

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Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European c... von Smith, Katherine R, Suppiah, Vijayaprakash, O'Connor, Kate, Berg, Thomas, Weltman, Martin, Abate, Maria Lorena, Spengler, Ulrich, Bassendine, Margaret, Matthews, Gail, Irving, William L, Powell, Elizabeth, Riordan, Stephen, Ahlenstiel, Golo, Stewart, Graeme J, Bahlo, Melanie, George, Jacob, Booth, David R

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Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes von Jiang, Xiao, O'Neill, Amanda, Smith, Katherine R., Lai, Zhongwu, Carss, Keren, Wang, Quanli, Petrovski, Slavé

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Waterfowl Management and Diet of the Salt Marsh Harvest Mouse von SMITH, KATHERINE R., KELT, DOUGLAS A.

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Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank von Garg, Manik, Karpinski, Marcin, Matelska, Dorota, Middleton, Lawrence, Burren, Oliver S., Hu, Fengyuan, Wheeler, Eleanor, Smith, Katherine R., Fabre, Margarete A., Mitchell, Jonathan, O’Neill, Amanda, Ashley, Euan A., Harper, Andrew R., Wang, Quanli, Dhindsa, Ryan S., Petrovski, Slavé, Vitsios, Dimitrios

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