Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family

por Elhaji, Youssef, van Henten, Tessa M.A., Ruivenkamp, Claudia A.L., Nightingale, Mathew, Santen, Gijs WE, Vos, Lydia E., Hull, Peter R.
Publicado 2021

A bone overgrowth disorder due to a gain-of-function mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP

por Kuhn, Michaela, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gaßner, Birgit, Oberwinkler, Heike, Hannema, Sabine E, van Duyvenvoorde, Hermine A, Roelfsema, Ferdinand, Santen, Gijs WE, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke JMH, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia AL, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Wit, Jan M
Publicado 2013

AHDC1 missense mutations in Xia-Gibbs syndrome

por Khayat, Michael M., Hu, Jianhong, Jiang, Yunyun, Li, He, Chander, Varuna, Dawood, Moez, Hansen, Adam W., Li, Shoudong, Friedman, Jennifer, Cross, Laura, Bijlsma, Emilia K., Ruivenkamp, Claudia A.L., Sansbury, Francis H., Innis, Jeffrey W., Omark O’Shea, Jessica, Meng, Qingchang, Rosenfeld, Jill A., McWalter, Kirsty, Wangler, Michael F., Lupski, James R., Posey, Jennifer E., Murdock, David, Gibbs, Richard A.
Publicado 2021

The Phenotypic Continuum of ATP1A3-Related Disorders

por Vezyroglou, Aikaterini, Akilapa, Rhoda, Barwick, Katy, Koene, Saskia, Brownstein, Catherine A., Holder-Espinasse, Muriel, Fry, Andrew E., Németh, Andrea H., Tofaris, George K., Hay, Eleanor, Hughes, Imelda, Mansour, Sahar, Mordekar, Santosh R., Splitt, Miranda, Turnpenny, Peter D., Demetriou, Demetria, Koopmann, Tamara T., Ruivenkamp, Claudia A.L., Agrawal, Pankaj B., Carr, Lucinda, Clowes, Virginia, Ghali, Neeti, Holder, Susan Elizabeth, Radley, Jessica, Male, Alison, Sisodiya, Sanjay M., Kurian, Manju A., Cross, J. Helen, Balasubramanian, Meena
Publicado 2022

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

por Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Publicado 2016

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

por Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A.S. Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K., le Tissier, Paul, Gharavy, S. Neda Mousavy, Martinez-Barbera, Juan P., Stokvis-Brantsma, Wilhelmina H., Vulsma, Thomas, Kempers, Marlies J., Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M.E., Hokken-Koelega, Anita C.S., Del Blanco, Daria Gorbenko, Rangasami, Jayanti J., Ruivenkamp, Claudia A.L., Laros, Jeroen F.J., Kriek, Marjolein, Kant, Sarina G., Bosch, Cathy A.J., Biermasz, Nienke R., Appelman-Dijkstra, Natasha M., Corssmit, Eleonora P., Hovens, Guido C.J., Pereira, Alberto M., den Dunnen, Johan T., Wade, Michael G., Breuning, Martijn H., Hennekam, Raoul C., Chatterjee, Krishna, Dattani, Mehul T., Wit, Jan M., Bernard, Daniel J.
Publicado 2012

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

por Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Publicado 2022

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

por Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., Littlejohn, Rebecca O., Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander P.A., Kant, Sarina G., McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid M.A., Douzgou, Sofia, Wall, Steven A., Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J., Twigg, Stephen R.F., Mathijssen, Irene M.J., Nellaker, Christoffer, Brunner, Han G., Wilkie, Andrew O.M.
Publicado 2018