Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Chae, Jong H."'
Autor:
Snijders Blok, Lot, 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, McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., 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.
Publikováno v:
DDD Study 2019, ' Author Correction : CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ', Nature Communications, vol. 10, no. 1, pp. 883 . https://doi.org/10.1038/s41467-019-08800-2, https://doi.org/10.1038/s41467-019-10161-9
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Nature Communications
An Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrion Castillo and Else Eising for
Autor:
Snijders Blok, Lot, 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, McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., 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.
Publikováno v:
Nature Communications, 9. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.4619. ⟨10.1038/s41467-018-06014-6⟩
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications, 9
Snijders Blok, L, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, L H, Nowak, C B, Douglas, J, Swoboda, K J, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S B, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faive, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E & Campeau, P M 2018, ' CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ', Nature Communications, vol. 9, 4619 . https://doi.org/10.1038/s41467-018-06014-6
Nature Communications, 9(1):4619. Nature Publishing Group
Nat. Commun. 9:4619 (2018)
Nature Communications, 9:4619. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.4619. ⟨10.1038/s41467-018-06014-6⟩
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications, 9
Snijders Blok, L, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, L H, Nowak, C B, Douglas, J, Swoboda, K J, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S B, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faive, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E & Campeau, P M 2018, ' CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ', Nature Communications, vol. 9, 4619 . https://doi.org/10.1038/s41467-018-06014-6
Nature Communications, 9(1):4619. Nature Publishing Group
Nat. Commun. 9:4619 (2018)
Nature Communications, 9:4619. Nature Publishing Group
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325d5a18f088fcfe443dd33cf44f0b27
https://dspace.library.uu.nl/handle/1874/377203
https://dspace.library.uu.nl/handle/1874/377203
Akademický článek
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Akademický článek
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Autor:
Blok LS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands., Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada., Twist J; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA., Ehresmann S; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada., Takaku M; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA., Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA., Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA., Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Steeves MA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA., Sahai I; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands., Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands., Wheeler P; Nemours Childrens Clinic, Orlando, FL, 32827, USA., Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA., Fiala E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA., Kochhar A; Valley Children's Hospital, Madera, CA, 93636, USA., Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Agbahovbe R; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada., Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK., Anderson IJ; Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN, 37920, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Warren HE; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Afenjar A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France., Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France., Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France., Buratti J; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France., Isapof A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France., Rodriguez D; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France., Lewandowski R; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA., Propst J; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA., van Essen T; Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea., Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea., Price S; Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA., Douglas G; GeneDx, Gaithersburg, MD, 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD, 20877, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany., Bialer MG; Northwell Health, Division of Medical Genetics and Genomics, Great Neck NY, 11021, USA., Moore C; 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Publikováno v:
Nature communications [Nat Commun] 2019 Feb 15; Vol. 10 (1), pp. 883. Date of Electronic Publication: 2019 Feb 15.