STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

por Spaull, Robert, Steel, Dora, Barwick, Katy, Prabhakar, Prab, Wakeling, Emma, Kurian, Manju A.
Publicado 2022

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

por Tooze, Rebecca S, Calpena, Eduardo, Twigg, Stephen R F, D’Arco, Felice, Wakeling, Emma L, Wilkie, Andrew O M
Publicado 2023

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

por Roa-Bautista, Adriel, Sohail, Mahreen, Wakeling, Emma, Gilmour, Kimberly C., Davis, Mark, Gait, Anthony, Lucchini, Giovanna, Cox, David, Elfeky, Reem, Kusters, Maaike
Publicado 2023

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

por Suntharalingham, Jenifer P., Ishida, Miho, Del Valle, Ignacio, Stalman, Susanne E., Solanky, Nita, Wakeling, Emma, Moore, Gudrun E., Achermann, John C., Buonocore, Federica
Publicado 2022

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

por Nahorski, Michael S., Asai, Masato, Wakeling, Emma, Parker, Alasdair, Asai, Naoya, Canham, Natalie, Holder, Susan E., Chen, Ya-Chun, Dyer, Joshua, Brady, Angela F., Takahashi, Masahide, Woods, C. Geoffrey
Publicado 2016

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

por 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.
Publicado 2023

Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

por Hsia, Gabriella S. P., Musso, Camila M., Alvizi, Lucas, Brito, Luciano A., Kobayashi, Gerson S., Pavanello, Rita C. M., Zatz, Mayana, Gardham, Alice, Wakeling, Emma, Zechi-Ceide, Roseli M., Bertola, Debora, Passos-Bueno, Maria Rita
Publicado 2018

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

por Lokulo-Sodipe, Oluwakemi, Ballard, Lisa, Child, Jenny, Inskip, Hazel M, Byrne, Christopher D, Ishida, Miho, Moore, Gudrun E, Wakeling, Emma L, Fenwick, Angela, Mackay, Deborah J G, Davies, Justin Huw, Temple, I Karen
Publicado 2020

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

por 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
Publicado 2020

Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

por 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.
Publicado 2022

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

por 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.
Publicado 2020

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

por Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Publicado 2018

Mosaic structural variation in children with developmental disorders

por King, Daniel A., Jones, Wendy D., Crow, Yanick J., Dominiczak, Anna F., Foster, Nicola A., Gaunt, Tom R., Harris, Jade, Hellens, Stephen W., Homfray, Tessa, Innes, Josie, Jones, Elizabeth A., Joss, Shelagh, Kulkarni, Abhijit, Mansour, Sahar, Morris, Andrew D., Parker, Michael J., Porteous, David J., Shihab, Hashem A., Smith, Blair H., Tatton-Brown, Katrina, Tolmie, John L., Trzaskowski, Maciej, Vasudevan, Pradeep C., Wakeling, Emma, Wright, Michael, Plomin, Robert, Timpson, Nicholas J., Hurles, Matthew E.
Publicado 2015

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

por Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G
Publicado 2018

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

por Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Publicado 2017

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

por Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon
Publicado 2021

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

por Jurkute, Neringa, Bertacchi, Michele, Arno, Gavin, Tocco, Chiara, Kim, Ungsoo Samuel, Kruszewski, Adam M, Avery, Robert A, Bedoukian, Emma C, Han, Jinu, Ahn, Sung Jun, Pontikos, Nikolas, Acheson, James, Davagnanam, Indran, Bowman, Richard, Kaliakatsos, Marios, Gardham, Alice, Wakeling, Emma, Oluonye, Ngozi, Reddy, Maddy Ashwin, Clark, Elaine, Rosser, Elisabeth, Amati-Bonneau, Patrizia, Charif, Majida, Lenaers, Guy, Meunier, Isabelle, Defoort, Sabine, Vincent-Delorme, Catherine, Robson, Anthony G, Holder, Graham E, Jeanjean, Luc, Martinez-Monseny, Antonio, Vidal-Santacana, Mariona, Dominici, Chloé, Gaggioli, Cedric, Giordano, Nadia, Caleo, Matteo, Liu, Grant T, Webster, Andrew R, Studer, Michèle, Yu-Wai-Man, Patrick
Publicado 2021

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Publicado 2014

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

por Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.
Publicado 2016