未登录Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome全面的EHMT1变异分析拓宽了Kleefstra综合征的基因型-表型关联和分子机制
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske .png)
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收藏Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityZhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; de Lima, Ariadne Ramalho; Ferreira, Barbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; Potocki, Lorraine; Chung, Wendy K.; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A.; Mason, Kati; Pollack, Lynda C.; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S.; Leahy, Peter; Powell, Cynthia M.; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R.; Odone Filho, Vicente; Muzny, Donna M.; Gibbs, Richard A.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia M. B. 分享 收藏 Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyVoisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre 分享 收藏 分享 收藏 Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction突变特异性病理生理机制定义与SATB1功能障碍相关的不同神经发育障碍den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J. M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistiene, Loreta; Coon, Hilary; Delot, Emmanuelle C.; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kucinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoe; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoit; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preiksaitiene, Egle; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Blok, Lot Snijders; Spillmann, Rebecca C.; Stegmann, Alexander P. A.; Thiffault, Isabelle; Linh Tran; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Vergano, Samantha A. Schrier; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E. L. M. 分享 收藏 NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalySchanze, Ina; Bunt, Jens; Lim, Jonathan W. C.; Schanze, Denny; Dean, Ryan J.; Alders, Marielle; Blanchet, Patricia; Attie-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J.; Cho, Megan T.; Dobyns, William B.; Donnai, Dian; Douglas, Jessica; Earl, Dawn L.; Edwards, Timothy J.; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gerard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F.; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M.; Morgan, Sian M.; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela T.; Puechberty, Jacques; Reinstein, Eyal; Riviere, Jean-Baptiste; Santani, Avni B.; Schneider, Anouck; Sherr, Elliott H.; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M.; Zenker, Martin; Richards, Linda J. 分享 收藏 NANS-mediated synthesis of sialic acid is required for brain and skeletal development (vol 48, pg 777, 2016)van Karnebeek, Clara D. M.; Bonafe, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J.; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J.; Van Allen, Margot I.; Rossi, Andrea; Engelke, Udo F.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W.; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J.; Wevers, Ron A.; Superti-Furga, Andrea 分享 收藏 RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeBoegershausen, Nina; Tsai, I-Chun; Pohl, Esther; Kiper, Pelin Ozlem Simsek; Beleggia, Filippo; Percin, E. Ferda; Keupp, Katharina; Matchan, Angela; Milz, Esther; Alanay, Yasemin; Kayserili, Hulya; Liu, Yicheng; Banka, Siddharth; Kranz, Andrea; Zenker, Martin; Wieczorek, Dagmar; Elcioglu, Nursel; Prontera, Paolo; Lyonnet, Stanislas; Meitinger, Thomas; Stewart, A. Francis; Donnai, Dian; Strom, Tim M.; Boduroglu, Koray; Yigit, Goekhan; Li, Yun; Katsanis, Nicholas; Wollnik, Bernd 分享 收藏 Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisBanka, Siddharth; Cain, Stuart A.; Carim, Sabrya; Daly, Sarah B.; Urquhart, Jill E.; Erdem, Guenhan; Harris, Jade; Bottomley, Michelle; Donnai, Dian; Kerr, Bronwyn; Kingston, Helen; Superti-Furga, Andreas; Unger, Sheila; Ennis, Holly; Worthington, Jane; Herrick, Ariane L.; Merry, Catherine L. R.; Yue, Wyatt W.; Kielty, Cay M.; Newman, William G. 分享 收藏 Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi SyndromeHussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin-ichi; Altmueller, Janine; Thiele, Holger; Nuernberg, Gudrun; Moosa, Shahida; Yigit, Goekhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart, Jill E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Noegel, Angelika Anna; Newman, William G.; Nuernberg, Peter 分享 收藏 Myhre and LAPS syndromes: clinical and molecular review of 32 patients (vol 22, pg 1272, 2014)Michot, Caroline; Le Goff, Carine; Mahaut, Clementine; Afenjar, Alexandra; Brooks, Alice S.; Campeau, Philippe M.; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sebastien; Kannu, Peter; Lin, Angela E.; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marlene; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R.; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valerie 分享 收藏 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismAnsari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M.; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hulya; Avci, Sahin; Hennekam, Raoul C. M.; Lampe, Anne K.; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Smeland, Marie Falkenberg; 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.; Nellaker, Christoffer; Taylor, Martin S.; FitzPatrick, David R. 分享 收藏 Myhre and LAPS syndromes: clinical and molecular review of 32 patientsMichot, Caroline; Le Goff, Carine; Mahaut, Clementine; Afenjar, Alexandra; Brooks, Alice S.; Campeau, Philippe M.; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sebastien; Kannu, Peter; Lin, Angela E.; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marlene; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R.; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valerie 分享 收藏 KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic HeterogeneityTucci, Arianna; Kara, Eleanna; Schossig, Anna; Wolf, Nicole I.; Plagnol, Vincent; Fawcett, Katherine; Paisan-Ruiz, Coro; Moore, Matthew; Hernandez, Dena; Musumeci, Sebastiano; Tennison, Michael; Hennekam, Raoul; Palmeri, Silvia; Malandrini, Alessandro; Raskin, Salmo; Donnai, Dian; Hennig, Corina; Tzschach, Andreas; Hordijk, Roel; Bast, Thomas; Wimmer, Katharina; Lo, Chien-Ning; Shorvon, Simon; Mefford, Heather; Eichler, Evan E.; Hall, Roger; Hayes, Ian; Hardy, John; Singleton, Andrew; Zschocke, Johannes; Houlden, Henry 分享 收藏 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumBanka, Siddharth; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J.; Crow, Yanick J.; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P. M.; Donnelly, Deirdre E.; Berland, Siren; Houge, Gunnar; Morton, Jenny E.; Oley, Christine; Revencu, Nicole; Park, Soo-Mi; Davies, Sally J.; Fry, Andrew E.; Lynch, Sally Ann; Gill, Harinder; Schweiger, Susann; Lam, Wayne W. K.; Tolmie, John; Mohammed, Shehla N.; Hobson, Emma; Smith, Audrey; Blyth, Moira; Bennett, Christopher; Vasudevan, Pradeep C.; Garcia-Minaur, Sixto; Henderson, Alex; Goodship, Judith; Wright, Michael J.; Fisher, Richard; Gibbons, Richard; Price, Susan M.; de Silva, Deepthi C.; Temple, I. Karen; Collins, Amanda L.; Lachlan, Katherine; Elmslie, Frances; McEntagart, Meriel; Castle, Bruce; Clayton-Smith, Jill; Black, Graeme C.; Donnai, Dian 分享 收藏 Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo SyndromeClayton-Smith, Jill; O'Sullivan, James; Daly, Sarah; Bhaskar, Sanjeev; Day, Ruth; Anderson, Beverley; Voss, Anne K.; Thomas, Tim; Biesecker, Leslie G.; Smith, Philip; Fryer, Alan; Chandler, Kate E.; Kerr, Bronwyn; Tassabehji, May; Lynch, Sally-Ann; Krajewska-Walasek, Malgorzata; McKee, Shane; Smith, Janine; Sweeney, Elizabeth; Mansour, Sahar; Mohammed, Shehla; Donnai, Dian; Black, Graeme 分享 收藏 Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human GrowthHanson, Dan; Murray, Philip G.; O'Sullivan, James; Urquhart, Jill; Daly, Sarah; Bhaskar, Sanjeev S.; Biesecker, Leslie G.; Skae, Mars; Smith, Claire; Cole, Trevor; Kirk, Jeremy; Chandler, Kate; Kingston, Helen; Donnai, Dian; Clayton, Peter E.; Black, Graeme C. M. 分享 收藏 分享 收藏 Mutations in HPSE2 Cause Urofacial Syndrome (vol 86, pg 963, 2010)Daly, Sarah B.; Urquhart, Jill E.; Hilton, Emma; McKenzie, Edward A.; Kammerer, Richard A.; Lewis, Malcolm; Kerr, Bronwyn; Stuart, Helen; Donnai, Dian; Long, David A.; Burgu, Berk; Aydogdu, Ozgu; Derbent, Murat; Garcia-Minaur, Sixto; Reardon, Willie; Gener, Blanca; Shalev, Stavit; Smith, Rupert; Woolf, Adrian S.; Black, Graeme C.; Newman, William G. 分享 收藏 Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 MutationsJohnston, Jennifer J.; Sapp, Julie C.; Turner, Joyce T.; Amor, David; Aftimos, Salim; Aleck, Kyrieckos A.; Bocian, Maureen; Bodurtha, Joann N.; Cox, Gerald F.; Curry, Cynthia J.; Day, Ruth; Donnai, Dian; Field, Michael; Fujiwara, Ikuma; Gabbett, Michael; Gal, Moran; Graham, John M., Jr.; Hedera, Peter; Hennekam, Raoul C. M.; Hersh, Joseph H.; Hopkin, Robert J.; Kayserili, Hulya; Kidd, Alexa M. J.; Kimonis, Virginia; Lin, Angela E.; Lynch, Sally Ann; Maisenbacher, Melissa; Mansour, Sahar; McGaughran, Julie; Mehta, Lakshmi; Murphy, Helen; Raygada, Margarita; Robin, Nathaniel H.; Rope, Alan F.; Rosenbaum, Kenneth N.; Schaefer, G. Bradley; Shealy, Amy; Smith, Wendy; Soller, Maria; Sommer, Annmarie; Stalker, Heather J.; Steiner, Bernhard; Stephan, Mark J.; Tilstra, David; Tomkins, Susan; Trapane, Pamela; Tsai, Anne Chun-Hui; Van Allen, Margot I.; Vasudevan, Pradeep C.; Zabel, Bernhard; Zunich, Janice; Black, Graeme C. M.; Biesecker, Leslie G. 分享 收藏 
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