DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes von Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

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Pathogenicity and selective constraint on variation near splice sites von Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E

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Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway von Garg, Shruti, Brooks, Ami, Burns, Amy, Burkitt‐Wright, Emma, Kerr, Bronwyn, Huson, Susan, Emsley, Richard, Green, Jonathan

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Costello syndrome: Clinical phenotype, genotype, and management guidelines von Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome von Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar

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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders von Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Chirita-Emandi, Adela, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelien, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline von Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Wright, Emma M. M. Burkitt, Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Meyts, Ewa Rajpert-De, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne

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Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease von Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.

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Mutations in HPSE2 Cause Urofacial Syndrome von Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

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Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability von Schanze, Ina, Schanze, Denny, Bacino, Carlos A, Douzgou, Sofia, Kerr, Bronwyn, Zenker, Martin

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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families von Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, McKinlay Gardner, R J, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome von Brussel, Wim, Percin, E. Ferda, Celli, Jacopo, Balci, Sevim, Kerr, Bronwyn, van Beusekom, Ellen, Akarsu, Nurten, van Bokhoven, Hans, Kayserili, Hülya, Brunner, Han G, Skovby, Flemming

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Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome von de Vries, Bert B. A, Ross, Shelley, Gécz, Jozef, Grompe, Markus, Clayton-Smith, Jill, Stewart, Helen, Lampe, Anne K, Gedeon, Ági K, White, Susan M, Thomas, Paul, Mulley, John C, Lower, Karen M, Turner, Gillian, Mathews, Katherine D, Schelley, Susan, van Ravenswaay, Conny M. A, Kerr, Bronwyn A, Shaw, Marie A, Hoyme, H. Eugene, Delatycki, Martin B, Cox, Barbara

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Patient complaints as predictors of patient safety incidents von Kroening, Helen L, Kerr, Bronwyn, Bruce, James, Yardley, Iain

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The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders von Kerr, Bronwyn, Allanson, Judith, Delrue, Marie Ange, Gripp, Karen W., Lacombe, Didier, Lin, Angela E., Rauen, Katherine A.

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Normal Mid-Gestation Fetal Ultrasonography Cannot Reliably Exclude Severe Perinatal Hypophosphatasia von Chinoy, Amish, Iruloh, Chibuike, Kerr, Bronwyn, Mughal, M. Zulf, Padidela, Raja

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms von Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder von Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth

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DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes von Griffiths, Pam, Strong, Kate, Gardner, Sara, Day, Ruth, Harrison, Caroline, Bronwyn, Kerr, Metcalfe, Kay, Brunner, Han, Donnai, Dian, Dallapiccola, Bruno, Devriendt, Koenraad, Krajewska-Walasek, Malgorzata, Philip, Nicole, Clayton-Smith, Jill

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Weekend specialist intensity and admission mortality in acute hospital trusts in England: a cross-sectional study von Aldridge, Cassie, PhD, Bion, Julian, Prof, Boyal, Amunpreet, MSc, Chen, Yen-Fu, PhD, Clancy, Mike, MSc, Evans, Tim, Prof, Girling, Alan, MA, Lord, Joanne, PhD, Mannion, Russell, Prof, Rees, Peter, MA, Roseveare, Chris, BM, Rudge, Gavin, MSc, Sun, Jianxia, MSc, Tarrant, Carolyn, PhD, Temple, Mark, MD, Watson, Sam, PhD, Lilford, Richard, Prof

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