De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome von Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

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Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition von Burleigh, Alice, Moraitis, Elena, Al Masroori, Eman, Al-Abadi, Eslam, Hong, Ying, Omoyinmi, Ebun, Titheradge, Hannah, Stals, Karen, Jones, Wendy D, Gait, Anthony, Jayarajan, Vignesh, Di, Wei-Li, Sebire, Neil, Solman, Lea, Ogboli, Malobi, Welch, Steven B, Sudarsanam, Annapurna, Wacogne, Ian, Price-Kuehne, Fiona, Jensen, Barbara, Brogan, Paul A, Eleftheriou, Despina

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Feasibility of low-intensity psychological interventions for emotional and behavioural difficulties in children and young people with genetic conditions: a case series von Ching, Brian C.F., Bennett, Sophie D., Rojas, Natalia, Heyman, Isobel, Liang, Holan, Catanzano, Matteo, Coughtrey, Anna E., Ashraf, Tazeen, Jones, Wendy D., Male, Alison, Shafran, Roz

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families von Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S, Goodship, Judith, Hobson, Emma, Jones, Wendy D, Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J, Turnpenny, Peter, Whitworth, James, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Lo, Cecilia W, FitzPatrick, David R, Hurles, Matthew E

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Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders von Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

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Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis von Gregory, Louise C, Shah, Pratik, Sanner, Juliane R F, Arancibia, Monica, Hurst, Jane, Jones, Wendy D, Spoudeas, Helen, Le Quesne Stabej, Polona, Williams, Hywel J, Ocaka, Louise A, Loureiro, Carolina, Martinez-Aguayo, Alejandro, Dattani, Mehul T

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations von Peron, Angela, D'Arco, Felice, Aldinger, Kimberly A, Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A, Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F, Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M, Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M, Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J, Earl, Dawn L, Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J, Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D, Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J, Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S, Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M, Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M, Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B A, Guillemot, Francois, Dobyns, William B, Viskochil, David, Dias, Cristina

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Mosaic structural variation in children with developmental disorders von 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

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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria von Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Ben Rhouma, Hanene, Ben Younes, Thouraya, Miladi, Zouhour, Ben Youssef Turki, Ilhem, Jones, Wendy D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, DeVile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay M, Hurst, Jane A

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Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders von Botto, Lorenzo D., Meeths, Marie, Campos‐Xavier, Belinda, Bergamaschi, Rosalba, Mazzanti, Laura, Scarano, Emanuela, Finocchi, Andrea, Cancrini, Caterina, Zirn, Birgit, Kühnle, Ingrid, Kramm, Christof Maria, Alanay, Yasemin, Jones, Wendy D., Irving, Melita, Sabir, Ataf, Henter, Jan‐Inge, Borgström, Birgit, Nordgren, Ann, Hammarsjö, Anna, Putti, Caterina, Mozzato, Chiara, Zuccarello, Daniela, Nishimura, Gen, Bonafè, Luisa, Grigelioniene, Giedre, Unger, Sheila, Superti‐Furga, Andrea

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Intracranial hypotension secondary to spinal arachnoid cyst rupture presenting with acute severe headache: a case report von Jones, Wendy D, Kulkarni, Makarand, Ravishankar, K, Borgstein, Rudi, Dupont, Peter

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data von Wright, Caroline F, Dr, Fitzgerald, Tomas W, MS, Jones, Wendy D, MBBS, Clayton, Stephen, MRes, McRae, Jeremy F, PhD, van Kogelenberg, Margriet, PhD, King, Daniel A, MD, Ambridge, Kirsty, BSc, Barrett, Daniel M, BSc, Bayzetinova, Tanya, BSc, Bevan, A Paul, PhD, Bragin, Eugene, MSc, Chatzimichali, Eleni A, PhD, Gribble, Susan, PhD, Jones, Philip, MSc, Krishnappa, Netravathi, MSc, Mason, Laura E, BSc, Miller, Ray, PhD, Morley, Katherine I, PhD, Parthiban, Vijaya, PhD, Prigmore, Elena, PhD, Rajan, Diana, MSc, Sifrim, Alejandro, PhD, Swaminathan, G Jawahar, PhD, Tivey, Adrian R, MSc, Middleton, Anna, PhD, Parker, Michael, Prof, Carter, Nigel P, PhD, Barrett, Jeffrey C, PhD, Hurles, Matthew E, PhD, FitzPatrick, David R, Prof, Firth, Helen V, DM

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma von Bolli, N, Li, Y, Sathiaseelan, V, Raine, K, Jones, D, Ganly, P, Cocito, F, Bignell, G, Chapman, M A, Sperling, A S, Anderson, K C, Avet-Loiseau, H, Minvielle, S, Campbell, P J, Munshi, N C

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Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders von Copeland, Harriet, Low, Karen J., Wynn, Sarah L., Ahmed, Ayesha, Arthur, Victoria, Balasubramanian, Meena, Bennett, Katya, Berg, Jonathan, Bertoli, Marta, Bryson, Lisa, Bucknall, Catrin, Campbell, Jamie, Chandler, Kate, Chauhan, Jaynee, Clarkson, Amy, Coles, Rachel, Conti, Hector, Costello, Philandra, Coupar, Tessa, Craig, Amy, Dean, John, Dillon, Amy, Dixit, Abhijit, Drew, Kathryn, Eason, Jacqueline, Forzano, Francesca, Foulds, Nicola, Gardham, Alice, Ghali, Neeti, Green, Andrew, Hanna, William, Harrison, Rachel, Hegarty, Mairead, Higgs, Jenny, Holder, Muriel, Irving, Rachel, Jain, Vani, Johnson, Katie, Jolley, Rachel, Jones, Wendy D., Jones, Gabriela, Joss, Shelagh, Kalinauskiene, Ruta, Kanani, Farah, Kavanagh, Karl, Khan, Mahmudur, Khan, Naz, Kivuva, Emma, Lahiri, Nayana, Lakhani, Neeta, Lampe, Anne, Lynch, Sally Ann, Mansour, Sahar, Marsden, Alice, Massey, Hannah, McKee, Shane, Mohammed, Shehla, Naik, Swati, Nesarajah, Mithushanaa, Newbury-Ecob, Ruth, Osborne, Fiona, Parker, Michael J., Patterson, Jenny, Pottinger, Caroline, Prapa, Matina, Prescott, Katrina, Quinn, Shauna, Radley, Jessica A., Robart, Sarah, Ross, Alison, Rosti, Giulia, Sansbury, Francis H., Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Shears, Debbie, Smithson, Sarah, Stewart, Helen, Suri, Mohnish, Tadros, Shereen, Theobald, Rachel, Thomas, Rhian, Tsoulaki, Olga, Vasudevan, Pradeep, Rodriguez, Maribel Verdesoto, Vittery, Emma, Whyte, Sinead, Woods, Emily, Wright, Thomas, Zocche, David, Firth, Helen V., Wright, Caroline F.

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K, Dabir, Tabib, Morrison, Patrick J, Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw-Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E, Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E, Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman-Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander JM, Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D, Genomics England Research Consortium, Becker, Esther BE, Németh, Andrea H

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Feasibility of low-intensity psychological interventions for emotional and behavioural difficulties in children and young people with genetic conditions: a case series von Ching, Brian CF, Bennett, Sophie D, Rojas, Natalia, Heyman, Isobel, Liang, Holan, Catanzano, Matteo, Coughtrey, Anna E, Ashraf, Tazeen, Jones, Wendy D, Male, Alison, Shafran, Roz

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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria von Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Consortium, Genomics England Research, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Rhouma, Hanene Ben, Younes, Thouraya Ben, Miladi, Zouhour, Turki, Ilhem Ben Youssef, Jones, Wendy D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, DeVile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Ponnudas, Prab Prabhakar, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay M, Hurst, Jane A

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families von Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S, Goodship, Judith, Hobson, Emma, Jones, Wendy D, Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J, Turnpenny, Peter, Whitworth, James, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Lo, Cecilia W, FitzPatrick, David R, Hurles, Matthew E, DDD study

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