AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders von Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation von Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E., Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K., Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W., Applegate, Carolyn D., Isfahani, Sanaz Attaripour, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A., Baple, Emma L., Bhatia, Kailash P., Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, D'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E., Farrelly, Ellyn, Fitzpatrick, David R., Fearon, Conor, Fieg, Elizabeth L., Fogel, Brent L., Forman, Eva B., Fox, Rachel G., Gahl, William A., Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D., Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J., Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B., Krystal, Sidney, Kumar, Kishore R., Laurencin, Chloe, Lee, Hane, Lesca, Gaetan, Francois, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A., Milesi, Christophe, Mills, Kelly A., Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R., Pal, Swasti, Pallais, Juan C., Pavillard, Frederique, Perrigault, Pierre-Francois, Petersen, Andrea K., Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G., Stevenson, David A., Stewart, Fiona, Tchan, Michel, Verma, Ishwar C., de Vries, Bert B. A., Wilson, Jenny L., Wong, Derek A., Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C., de Gusmao, Claudio M., Friedman, Jennifer

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia von Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, Kurian, Manju A

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A von CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab

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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability von Nicola, Pantelis, Blackburn, Patrick R., Rasmussen, Kristen J., Bertsch, Nicole L., Klee, Eric W., Hasadsri, Linda, Pichurin, Pavel N., Rankin, Julia, Raymond, F. Lucy, Clayton‐Smith, Jill

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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome von Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype von Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

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‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandem... von Wolstencroft, Jeanne, Hull, Laura, Warner, Lauren, Akhtar, Tooba Nadeem, Mandy, William, Skuse, David, Baker, Kate, Dewhurst, Eleanor, Lafont, Amy, Lucy Raymond, F, Shirley, Terry, Tilley, Hayley, Timur, Husne, Titterton, Catherine, Walker, Neil, Wallwork, Sarah, Wicks, Francesca, Ye, Zheng, Erwood, Marie, Andrews, Sophie, Birch, Philippa, Bowen, Samantha, Bradley, Karen, Challenger, Aimee, Chawner, Samuel, Cuthbert, Andrew, Hall, Jeremy, Holmans, Peter, Law, Sarah, Lewis, Nicola, Morrison, Sinead, Moss, Hayley, Owen, Michael, Ray, Sinead, Sopp, Matthew, Tong, Molly, Bree, Marianne van den, Coscini, Nadia, Davies, Sarah, Denaxas, Spiros, Denyer, Hayley, Fatih, Nasrtullah, Juj, Manoj, Kerry, Ellie, Lucock, Anna, Printzlau, Frida, Srinivasan, Ramya, Walker, Susan, Watkins, Alice, Searle, Beverly, Pelling, Anna, Dean, John, Robertson, Lisa, Alan, Denise Williams, Lucy, Donaldson, Procter, Annie, Berg, Jonathan, Lampe, Anne, Rankin, Julia, Joss, Shelagh, Chitty, Lyn, Flinter, Frances, Holder, Muriel, Kraus, Alison, Barwell, Julian, Vasudevan, Pradeep, Weber, Astrid, Newman, William, Splitt, Miranda, Clowes, Virginia, Dijk, Fleur van, Harrison, Rachel, Kini, Usha, Quarrell, Oliver, Baralle, Diana, Mansour, Sahar, Crow, Yanick

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Childhood presentation of COL4A1 mutations von SHAH, SIDDHARTH, ELLARD, SIAN, KNEEN, RACHEL, LIM, MING, OSBORNE, NIGEL, RANKIN, JULIA, STOODLEY, NEIL, VAN DER KNAAP, MARJO, WHITNEY, ANDREA, JARDINE, PHILIP

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height von Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, Karen I, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen

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NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses von Van Bergen, Nicole J, Guo, Yiran, Rankin, Julia, Paczia, Nicole, Becker-Kettern, Julia, Kremer, Laura S, Pyle, Angela, Conrotte, Jean-François, Ellaway, Carolyn, Procopis, Peter, Prelog, Kristina, Homfray, Tessa, Baptista, Júlia, Baple, Emma, Wakeling, Matthew, Massey, Sean, Kay, Daniel P, Shukla, Anju, Girisha, Katta M, Lewis, Leslie E S, Santra, Saikat, Power, Rachel, Daubeney, Piers, Montoya, Julio, Ruiz-Pesini, Eduardo, Kovacs-Nagy, Reka, Pritsch, Martin, Ahting, Uwe, Thorburn, David R, Prokisch, Holger, Taylor, Robert W, Christodoulou, John, Linster, Carole L, Ellard, Sian, Hakonarson, Hakon

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Effects of Heat Shock, Heat Shock Protein 40 (HDJ-2), and Proteasome Inhibition on Protein Aggregation in Cellular Models of Huntington's Disease von Wyttenbach, A, Carmichael, J, Swartz, J, Furlong, R A, Narain, Y, Rankin, J, Rubinsztein, D C

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MFN2 deletion of exons 7 and 8: founder mutation in the UK population von Carr, Aisling S., Polke, James M., Wilson, Jacob, Pelayo-Negro, Ana L., Laura, Matilde, Nanji, Tina, Holt, James, Vaughan, Jennifer, Rankin, Julia, Sweeney, Mary G., Blake, Julian, Houlden, Henry, Reilly, Mary M.

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Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature von Thomas, N. Simon, Harvey, John F., Bunyan, David J., Rankin, Julia, Grigelioniene, Giedre, Bruno, Damien L., Tan, Tiong Y., Tomkins, Susan, Hastings, Robert

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Evidence for 28 genetic disorders discovered by combining healthcare and research data von Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

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Prevalence and architecture of de novo mutations in developmental disorders von McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C

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The laminopathies: a clinical review von Rankin, J, Ellard, S

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Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome von Fenwick, Aimee L, Goos, Jacqueline AC, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans MW, Wall, Steven A, Mathijssen, Irene MJ, Wilkie, Andrew OM

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.

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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development von Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.

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