Silver–Russell syndrome von Wakeling, Emma L

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A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype von Kojic, Marija, Abbassi, Nour E H, Lin, Ting-Yu, Jones, Alun, Wakeling, Emma L, Clement, Emma, Nakou, Vasiliki, Singleton, Matthew, Dobosz, Dominika, Kaliakatsos, Marios, Glatt, Sebastian, Wainwright, Brandon J

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia von Symonds, Joseph D., Park, Kristen L., Mignot, Cyril, Macleod, Stewart, Armstrong, Martin, Ashrafian, Houman, Bernard, Geneviève, Brown, Kathleen, Brunklaus, Andreas, Callaghan, Mary, Classen, Georg, Cohen, Julie S., Cutcutache, Ioana, Sainte Agathe, Jean‐Madeleine, Dyment, David, Elliot, Katherine S., Isapof, Arnaud, Joss, Shelagh, Keren, Boris, Marble, Michael, McTague, Amy, Osmond, Matthew, Page, Matthew, Planes, Marc, Platzer, Konrad, Redon, Sylvia, Reese, James, Saenz, Margarita, Smith‐Hicks, Constance, Stobo, Daniel, Stockhaus, Christian, Vuillaume, Marie‐Laure, Wolf, Nicole I., Wakeling, Emma L., Yoon, Grace, Knight, Julian C., Zuberi, Sameer M.

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Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment von Lokulo‐Sodipe, Oluwakemi, Giabicani, Eloïse, Canton, Ana P. M., Ferrand, Nawfel, Child, Jenny, Wakeling, Emma L., Binder, Gerhard, Netchine, Irène, Mackay, Deborah J. G., Inskip, Hazel M., Byrne, Christopher D., Temple, I. Karen, Davies, Justin H.

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients von Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A

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A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication von Al-Yassin, Amina, Calder, Alistair D, Harrison, Mike, Lester, Tracy, Lord, Helen, Oldridge, Michael, Watkins, Sophie, Keen, Richard, Wakeling, Emma L

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci von TURNER, Claire Louise Susan, MACKAY, Deborah M, MEHTA, Sarju G, MANSOUR, Sahar, WAKELING, Emma L, MATHEW, Verghese, MADDEN, Jackie, DAVIES, Justin H, KAREN TEMPLE, I, CALLAWAY, Jonathan La, DOCHERTY, Louise E, POOLE, Rebecca L, BULLMAN, Hilary, LEVER, Margaret, CASTLE, Bruce M, KIVUVA, Emma C, TURNPENNY, Peter D

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Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism von Hietamäki, Johanna, Gregory, Louise C, Ayoub, Sandy, Iivonen, Anna-Pauliina, Vaaralahti, Kirsi, Liu, Xiaonan, Brandstack, Nina, Buckton, Andrew J, Laine, Tiina, Känsäkoski, Johanna, Hero, Matti, Miettinen, Päivi J, Varjosalo, Markku, Wakeling, Emma, Dattani, Mehul T, Raivio, Taneli

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Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review von Roa-Bautista, Adriel, Sohail, Mahreen, Wakeling, Emma, Gilmour, Kimberly C., Davis, Mark, Gait, Anthony, Lucchini, Giovanna, Cox, David, Elfeky, Reem, Kusters, Maaike

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias von Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin

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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling von Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias von Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders von Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G.

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Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome von Suntharalingham, Jenifer P, Ishida, Miho, Del Valle, Ignacio, Stalman, Susanne E, Solanky, Nita, Wakeling, Emma, Moore, Gudrun E, Achermann, John C, Buonocore, Federica

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Diagnosis and management of Silver–Russell syndrome: first international consensus statement von Wakeling, Emma L., Brioude, Frédéric, Lokulo-Sodipe, Oluwakemi, O'Connell, Susan M., Salem, Jennifer, Bliek, Jet, Canton, Ana P. M., Chrzanowska, Krystyna H., Davies, Justin H., Dias, Renuka P., Dubern, Béatrice, Elbracht, Miriam, Giabicani, Eloise, Grimberg, Adda, Grønskov, Karen, Hokken-Koelega, Anita C. S., Jorge, Alexander A., Kagami, Masayo, Linglart, Agnes, Maghnie, Mohamad, Mohnike, Klaus, Monk, David, Moore, Gudrun E., Murray, Philip G., Ogata, Tsutomu, Petit, Isabelle Oliver, Russo, Silvia, Said, Edith, Toumba, Meropi, Tümer, Zeynep, Binder, Gerhard, Eggermann, Thomas, Harbison, Madeleine D., Temple, I. Karen, Mackay, Deborah J. G., Netchine, Irène

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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome von Roosing, Susanne, Rosti, Rasim O., Rosti, Basak, de Vrieze, Erik, Silhavy, Jennifer L., van Wijk, Erwin, Wakeling, Emma, Gleeson, Joseph G.

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Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations von Ramesh, Raakhee, Chen, Huijia, Kukula, Anna, Wakeling, Emma L, Rustin, Malcolm H.A, McLean, W.H. Irwin

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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome von Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.

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Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis von Alabdulrazzaq, Fatima, Alanzi, Talal, Al‐Balool, Haya H., Gardham, Alice, Wakeling, Emma, Leitch, Harry G., AlSayed, Moeenaldeen, Abdulrahim, Maha, Aladwani, Abdulaziz, Romito, Antonio, Kampe, Kapil, Ferdinandusse, Sacha, Aboelanine, Ashraf H., Abdullah, Amira, Alwadani, Amal, Bastaki, Laila, Vaz, Frédéric M., Bertoli‐Avella, Aida M., Marafi, Dana

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Epigenetic signatures of Silver–Russell syndrome von Abu-Amero, Sayeda, Wakeling, Emma L, Preece, Mike, Whittaker, John, Stanier, Philip, Moore, Gudrun E

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