Not logged in Share Save
Share Save
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms Bereshneh, Ali H.; Andrews, Jonathan C.; Eberl, Daniel F.; Bademci, Guney; Borja, Nicholas A.; Bivona, Stephanie; Chung, Wendy K.; Yamamoto, Shinya; Wangler, Michael F.; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J.; Kanca, Oguz Share Save
Further delineation of the SCAF4-associated neurodevelopmental disorder Schmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane Share Save
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M. Share Save
Biallelic variants in CRIPT cause a Rothmund- Thomson-like syndrome with increased cellular senescence Averdunk, Luisa; Huetzen, Maxim A.; Moreno-Andres, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix Share Save
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder Blok, Lot Snijders; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A. Micheil; Stumpel, Connie; Ounap, Katrin; Reinson, Karit; Seaby, Eleanor G.; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M.; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H.; Sheppard, Sarah E.; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D.; Campeau, Philippe M.; Millan, Francisca; Taylor, Jesse A.; Lochmuller, Hanns; Higgs, Martin R.; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J.; Schmanski, Andrew A.; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C.; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E.; Kramer, Jamie M.; den Hoed, Joery; Fisher, Simon E.; Brunner, Han G.; Kleefstra, Tjitske Share Save
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Kayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A. Share Save
Share Save
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Muir, Alison M.; Gardner, Jennifer F.; van Jaarsveld, Richard H.; de Lange, Iris M.; van der Smagt, Jasper J.; Wilson, Golder N.; Dubbs, Holly; Goldberg, Ethan M.; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C.; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C.; Brady, Angela F.; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A.; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E.; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J.; Wentzensen, Ingrid M.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B.; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klockner, Chiara; Hoffman, Trevor L.; MacArthur, Daniel G.; O'Leary, Melanie C.; VanNoy, Grace E.; England, Eleina; Varghese, Vinod C.; Mefford, Heather C. Share Save
Making sense of missense variants in TTN-related congenital myopathies Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (vol 19, pg 238, 2020) Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; Mckee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 Krab, Lianne C.; Marcos-Alcalde, Inigo; Assaf, Melissa; Balasubramanian, Meena; Andersen, Janne Bayer; Bisgaard, Anne-Marie; Fitzpatrick, David R.; Gudmundsson, Sanna; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martinez, Francisco; McKee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Mokry, Jill A. Rosenfeld; Scarano, Emanuela; Shinawi, Marwan; Gomez-Puertas, Paulino; Tumer, Zeynep; Hennekam, Raoul C. Share Save
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction Williamson, Kathleen A.; Hall, H. Nikki; Owen, Liusaidh J.; Livesey, Benjamin J.; Hanson, Isabel M.; Adams, G. G. W.; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T.; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T.; Parker, Michael; Reiff, Charlotte M.; Self, Jay; Tobias, Edward S.; Verheij, Joke B. G. M.; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A.; FitzPatrick, David R. Share Save
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data Aitken, Stuart; Firth, Helen V.; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J.; Lees, Melissa M.; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Nemeth, Andrea H.; Scott, Richard H.; Wright, Caroline F.; Marsh, Joseph A.; Hurles, Matthew E.; FitzPatrick, David R. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
