未登录 Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle 分享 收藏
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes Levitin, Maria O.; Rawlins, Lettie E.; Sanchez-Andrade, Gabriela; Arshad, Osama A.; Collins, Stephan C.; Sawiak, Stephen J.; Iffland II, Phillip H.; Andersson, Malin H. L.; Bupp, Caleb; Cambridge, Emma L.; Coomber, Eve L.; Ellis, Ian; Herkert, Johanna C.; Ironfield, Holly; Jory, Logan; Kretz, Perrine F.; Kant, Sarina G.; Neaverson, Alexandra; Nibbeling, Esther; Rowley, Christine; Relton, Emily; Sanderson, Mark; Scott, Ethan M.; Stewart, Helen; Shuen, Andrew Y.; Schreiber, John; Tuck, Liz; Tonks, James; Terkelsen, Thorkild; van Ravenswaaij-Arts, Conny; Vasudevan, Pradeep; Wenger, Olivia; Wright, Michael; Day, Andrew; Hunter, Adam; Patel, Minal; Lelliott, Christopher J.; Crino, Peter B.; Yalcin, Binnaz; Crosby, Andrew H.; Baple, Emma L.; Logan, Darren W.; Hurles, Matthew E.; Gerety, Sebastian S. 分享 收藏
Optimising care and follow-up of adults with achondroplasia Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Ines; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.; Wright, Michael 分享 收藏
Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study Savarirayan, Ravi; Baratela, Wagner; Butt, Thomas; Cormier-Daire, Valerie; Irving, Melita; Miller, Bradley S.; Mohnike, Klaus; Ozono, Keiichi; Rosenfeld, Ron; Selicorni, Angelo; Thompson, Dominic; White, Klane K.; Wright, Michael; Fredwall, Svein O. 分享 收藏
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International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia Savarirayan, Ravi; Ireland, Penny; Irving, Melita; Thompson, Dominic; Alves, Ines; Baratela, Wagner A. R.; Betts, James; Bober, Michael B.; Boero, Silvio; Briddell, Jenna; Campbell, Jeffrey; Campeau, Philippe M.; Carl-Innig, Patricia; Cheung, Moira S.; Cobourne, Martyn; Cormier-Daire, Valerie; Deladure-Molla, Muriel; del Pino, Mariana; Elphick, Heather; Fano, Virginia; Fauroux, Brigitte; Gibbins, Jonathan; Groves, Mari L.; Hagenas, Lars; Hannon, Therese; Hoover-Fong, Julie; Kaisermann, Morrys; Leiva-Gea, Antonio; Llerena, Juan; Mackenzie, William; Martin, Kenneth; Mazzoleni, Fabio; McDonnell, Sharon; Meazzini, Maria Costanza; Milerad, Josef; Mohnike, Klaus; Mortier, Geert R.; Offiah, Amaka; Ozono, Keiichi; Phillips, John A., III; Powell, Steven; Prasad, Yosha; Raggio, Cathleen; Rosselli, Pablo; Rossiter, Judith; Selicorni, Angelo; Sessa, Marco; Theroux, Mary; Thomas, Matthew; Trespedi, Laura; Tunkel, David; Wallis, Colin; Wright, Michael; Yasui, Natsuo; Fredwall, Svein Otto 分享 收藏
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis (vol 17, pg 189, 2019) Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine 分享 收藏
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; Van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine 分享 收藏
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features Turnpenny, Peter D.; Wright, Michael J.; Sloman, Melissa; Caswell, Richard; van Essen, Anthony J.; Gerkes, Erica; Pfundt, Rolph; White, Susan M.; Shaul-Lotan, Nava; Carpenter, Lori; Schaefer, G. Bradley; Fryer, Alan; Innes, A. Micheil; Forbes, Kirsten P.; Chung, Wendy K.; McLaughlin, Heather; Henderson, Lindsay B.; Roberts, Amy E.; Heath, Karen E.; Paumard-Hernandez, Beatriz; Gener, Blanca; Fawcett, Katherine A.; Gjergja-Juraski, Romana; Pilz, Daniela T.; Fry, Andrew E. 分享 收藏
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Al Turki, Saeed H.; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W.; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M. M.; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J.; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P.; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H.; Park, Soo-Mi; Parker, Michael J.; Pickardt, Thomas; Pollard, Martin O.; Robert, Leema; Roberts, David J.; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E. F.; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mandi; Klaassen, Sabine; Wright, Caroline F.; Firth, Helen V.; Barrett, Jeffrey C.; Devriendt, Koenraad; FitzPatrick, David R.; Brook, J. David; Hurles, Matthew E. 分享 收藏
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability Houge, Gunnar; Haesen, Darien; Vissers, Lisenka E. L. M.; Mehta, Sarju; Parker, Michael J.; Wright, Michael; Vogt, Julie; Mckee, Shane; Tolmie, John L.; Cordeiro, Nuno; Kleefstra, Tjitske; Willemsen, Marjolein H.; Reijnders, Margot R. F.; Berland, Siren; Hayman, Eli; Lahat, Eli; Brilstra, Eva H.; van Gassen, Ithen Li; Zonneveld-Huijssoon, Evelien; de Bie, Charlotte I.; Hoischen, Alexander; Eichler, Evan E.; Holdhus, Rita; Steen, Vidar M.; Doskeland, Stein Dye; Hurles, Matthew E.; FitzPatrick, David R.; Janssens, Veerle 分享 收藏
Mosaic structural variation in children with developmental disorders 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. 分享 收藏
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Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature McCann, Liza J.; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M.; Wright, Michael; Abinun, Mario 分享 收藏
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis de Munnik, Sonja A.; Bicknell, Louise S.; Aftimos, Salim; Al-Aama, Jumana Y.; van Bever, Yolande; Bober, Michael B.; Clayton-Smith, Jill; Edrees, Alaa Y.; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M.; Hennekam, Raoul C.; Jansweijer, Maaike C. E.; Johnson, Diana; Kant, Sarina G.; Opitz, John M.; Ramadevi, A. Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T. R. M.; Schoots, Jeroen; Temple, I. Karen; Terhal, Paulien A.; Toutain, Annick; Wise, Carol A.; Wright, Michael; Skidmore, David L.; Samuels, Mark E.; Hoefsloot, Lies H.; Knoers, Nine V. A. M.; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie M. H. F. 分享 收藏
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum Banka, 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
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