De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

por Janssen, Beau D. E., van den Boogaard, Marie‐Jose H., Lichtenbelt, Klaske, Seaby, Eleanor G., Stals, Karen, Ellard, Sian, Newbury‐Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V., Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J., van Gassen, Koen, van Jaarsveld, Richard H.
Publicado 2022

Multicentre individual randomised controlled trial of screening and brief alcohol intervention to prevent risky drinking in young people aged 14–15 in a high school setting (SIPS J...

por Giles, Emma L, Coulton, Simon, Deluca, Paolo, Drummond, Colin, Howel, Denise, Kaner, Eileen, McColl, Elaine, McGovern, Ruth, Scott, Stephanie, Stamp, Elaine, Sumnall, Harry, Tate, Les, Todd, Liz, Vale, Luke, Albani, Viviana, Boniface, Sadie, Ferguson, Jennifer, Frankham, Jo, Gilvarry, Eilish, Hendrie, Nadine, Howe, Nicola, McGeechan, Grant J, Stanley, Grant, Newbury-Birch, Dorothy
Publicado 2016

High-Throughput In Vivo Analysis of Gene Expression in Caenorhabditis elegans

por Hunt-Newbury, Rebecca, Viveiros, Ryan, Johnsen, Robert, Mah, Allan, Anastas, Dina, Fang, Lily, Halfnight, Erin, Lee, David, Lin, John, Lorch, Adam, McKay, Sheldon, Okada, H. Mark, Pan, Jie, Schulz, Ana K, Tu, Domena, Wong, Kim, Zhao, Z, Alexeyenko, Andrey, Burglin, Thomas, Sonnhammer, Eric, Schnabel, Ralf, Jones, Steven J, Marra, Marco A, Baillie, David L, Moerman, Donald G
Publicado 2007

Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

por Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H., Gilissen, Christian, Reader, Rose H., Jara, Lillian, Echeverry, Maria Magdalena, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O’Hare, Anne, Bolton, Patrick F., Hennessy, Elizabeth R., Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A., Cazier, Jean-Baptiste, De Barbieri, Zulema, Fisher, Simon E., Newbury, Dianne F.
Publicado 2015

Correction: Exome Sequencing in an Admixed Isolated Population IndicatesNFXL1 Variants Confer a Risk for Specific Language Impairment

por Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H., Gilissen, Christian, Reader, Rose H., Jara, Lillian, Magdalena Echeverry, María, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O’Hare, Anne, Bolton, Patrick F., Hennessy, Elizabeth R., Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A., Cazier, Jean-Baptiste, Barbieri, Zulema De, Fisher, Simon E., Newbury, Dianne F.
Publicado 2015

Potential of Non-Coding RNA as Biomarkers for Progressive Supranuclear Palsy

por Simoes, Fabio A., Joilin, Greig, Peters, Oliver, Schneider, Luisa-Sophie, Priller, Josef, Spruth, Eike Jakob, Vogt, Ina, Kimmich, Okka, Spottke, Annika, Hoffmann, Daniel C., Falkenburger, Björn, Brandt, Moritz, Prudlo, Johannes, Brockmann, Kathrin, Fries, Franca Laura, Rowe, James B., Church, Alistair, Respondek, Gesine, Newbury, Sarah F., Leigh, P. Nigel, Morris, Huw R., Höglinger, Günter U., Hafezparast, Majid
Publicado 2022

Impact of primary healthcare providers’ initial role security and therapeutic commitment on implementing brief interventions in managing risky alcohol consumption: a cluster random...

por Keurhorst, M., Anderson, P., Heinen, M., Bendtsen, Preben, Baena, Begoña, Brzózka, Krzysztof, Colom, Joan, Deluca, Paolo, Drummond, Colin, Kaner, Eileen, Kłoda, Karolina, Mierzecki, Artur, Newbury-Birch, Dorothy, Okulicz-Kozaryn, Katarzyna, Palacio-Vieira, Jorge, Parkinson, Kathryn, Reynolds, Jillian, Ronda, Gaby, Segura, Lidia, Słodownik, Luiza, Spak, Fredrik, van Steenkiste, Ben, Wallace, Paul, Wolstenholme, Amy, Wojnar, Marcin, Gual, Antoni, Laurant, M., Wensing, M.
Publicado 2016

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

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

por Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Publicado 2019

Clinical and genetic aspects of KBG syndrome

por Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton‐Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury‐Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah
Publicado 2016

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

por Jeffries, Aaron R., Maroofian, Reza, Salter, Claire G., Chioza, Barry A., Cross, Harold E., Patton, Michael A., Dempster, Emma, Temple, I. Karen, Mackay, Deborah J.G., Rezwan, Faisal I., Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F., Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H., Baple, Emma L.
Publicado 2019

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

por Alharatani, Reham, Ververi, Athina, Beleza-Meireles, Ana, Ji, Weizhen, Mis, Emily, Patterson, Quinten T, Griffin, John N, Bhujel, Nabina, Chang, Caitlin A, Dixit, Abhijit, Konstantino, Monica, Healy, Christopher, Hannan, Sumayyah, Neo, Natsuko, Cash, Alex, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine H, Cleaver, Ruth, Baralle, Diana, McEntagart, Meriel, Newbury-Ecob, Ruth, Scott, Richard, Hurst, Jane A, Au, Ping Yee Billie, Hosey, Marie Therese, Khokha, Mustafa, Marciano, Denise K, Lakhani, Saquib A, Liu, Karen J
Publicado 2020

CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment

por Newbury, Dianne F., Winchester, Laura, Addis, Laura, Paracchini, Silvia, Buckingham, Lyn-Louise, Clark, Ann, Cohen, Wendy, Cowie, Hilary, Dworzynski, Katharina, Everitt, Andrea, Goodyer, Ian M., Hennessy, Elizabeth, Kindley, A. David, Miller, Laura L., Nasir, Jamal, O'Hare, Anne, Shaw, Duncan, Simkin, Zoe, Simonoff, Emily, Slonims, Vicky, Watson, Jocelynne, Ragoussis, Jiannis, Fisher, Simon E., Seckl, Jonathon R., Helms, Peter J., Bolton, Patrick F., Pickles, Andrew, Conti-Ramsden, Gina, Baird, Gillian, Bishop, Dorothy V.M., Monaco, Anthony P.
Publicado 2009

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

por Albers, Cornelis A, Paul, Dirk S, Schulze, Harald, Freson, Kathleen, Stephens, Jonathan C, Smethurst, Peter A, Jolley, Jennifer D, Cvejic, Ana, Kostadima, Myrto, Bertone, Paul, Breuning, Martijn H, Debili, Najet, Deloukas, Panos, Favier, Rémi, Fiedler, Janine, Hobbs, Catherine M, Huang, Ni, Hurles, Matthew E, Kiddle, Graham, Krapels, Ingrid, Nurden, Paquita, Ruivenkamp, Claudia A L, Sambrook, Jennifer G, Smith, Kenneth, Stemple, Derek L, Strauss, Gabriele, Thys, Chantal, van Geet, Christel, Newbury-Ecob, Ruth, Ouwehand, Willem H, Ghevaert, Cedric
Publicado 2012

The ACCELERATE Plus (assessment and communication excellence for safe patient outcomes) Trial Protocol: a stepped-wedge cluster randomised trial, cost-benefit analysis, and process...

por Liu, Mark, Whittam, Susan, Thornton, Anna, Goncharov, Liza, Slade, Diana, McElduff, Benjamin, Kelly, Patrick, Law, Chi Kin, Walsh, Sarah, Pollnow, Vivien, Cuffe, Jayde, McMahon, Jake, Aggar, Christina, Bilo, Jacqueline, Bowen, Karen, Chow, Josephine S. F., Duffy, Katharine, Everett, Bronwyn, Ferguson, Caleb, Frost, Steven A., Gleeson, Narelle, Hackett, Kate, Komusanac, Ivanka, Marshall, Sonia, May, Sharon, McErlean, Gemma, Melbourne, Gregory, Murphy, Jade, Newbury, Joanne, Newman, Deb, Rihari-Thomas, John, Sciuriaga, Hayley, Sturgess, Lauren, Taylor, Joanne, Tuqiri, Karen, McInnes, Elizabeth, Middleton, Sandy
Publicado 2023

Correction: the ACCELERATE Plus (assessment and communication excellence for safe patient outcomes) Trial Protocol: a stepped-wedge cluster randomised trial, cost-benefit analysis,...

por Liu, Mark, Whittam, Susan, Thornton, Anna, Goncharov, Liza, Slade, Diana, McElduff, Benjamin, Kelly, Patrick, Law, Chi Kin, Walsh, Sarah, Pollnow, Vivien, Cuffe, Jayde, McMahon, Jake, Aggar, Christina, Bilo, Jacqueline, Bowen, Karen, Chow, Josephine S. F., Duffy, Katharine, Everett, Bronwyn, Ferguson, Caleb, Frost, Steven A., Gleeson, Narelle, Hackett, Kate, Komusanac, Ivanka, Marshall, Sonia, May, Sharon, McErlean, Gemma, Melbourne, Gregory, Murphy, Jade, Newbury, Joanne, Newman, Deb, Rihari-Thomas, John, Sciuriaga, Hayley, Sturgess, Lauren, Taylor, Joanne, Tuqiri, Karen, McInnes, Elizabeth, Middleton, Sandy
Publicado 2023

Avian Influenza A(H7N2) Virus in Human Exposed to Sick Cats, New York, USA, 2016

por Marinova-Petkova, Atanaska, Laplante, Jen, Jang, Yunho, Lynch, Brian, Zanders, Natosha, Rodriguez, Marisela, Jones, Joyce, Thor, Sharmi, Hodges, Erin, De La Cruz, Juan A., Belser, Jessica, Yang, Hua, Carney, Paul, Shu, Bo, Berman, LaShondra, Stark, Thomas, Barnes, John, Havers, Fiona, Yang, Patrick, Trock, Susan C., Fry, Alicia, Gubareva, Larisa, Bresee, Joseph S., Stevens, James, Daskalakis, Demetre, Liu, Dakai, Lee, Christopher T., Torchetti, Mia Kim, Newbury, Sandra, Cigel, Francine, Toohey-Kurth, Kathy, St. George, Kirsten, Wentworth, David E., Lindstrom, Stephen, Davis, C. Todd
Publicado 2017

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

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

por Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.
Publicado 2019

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

por Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Publicado 2021