Not logged inDe Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
Bradbrook, Samuel M.; Graham, Gail; Carter, Melissa T.; Kibaek, Maria; Fagerberg, Christina; Larsen, Martin J.; Dawson, Katherine; Meuter, Cheryl; Pepler, Alexander; Besnard, Thomas; Vincent, Marie; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Bjorgo, Kathrine; Amundsen, Silja Svanstrom; Courtin, Thomas; Emrick, Lisa; Rosenfeld, Jill A.; Weisz-Hubshman, Monika; Mak, Bryan C.; Martinez-Agosto, Julian; Heulin, Mathilde; Morin, Gilles; Keren, Boris; Schutz, Sacha; Monin, Pauline; Pujalte, Mathilde; Januel, Louis; Lesca, Gaetan; Valence, Marie Noelle Bonnet Dupeyron; Margot, Henri; Levy, Jonathan; Iovino, Emmanuela; Isidori, Federica; Pippucci, Tommaso; Montanari, Francesca; Bell, Lauren; Burton, Jennifer; Torti, Erin; Wentzensen, Ingrid M.; Marcadier, Julien .png)
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SaveRecurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeTessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; 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 Share Save De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresMalhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Sobreira, Nara Lygia de Macena; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; Wang, Hua; Zhang, Hainan; Perry, Denise L.; Ferrarini, Alessandra; Colombo, Roberto; Pepler, Alexander; Schneider, Adele; Tomiwa, Kiyotaka; Okamoto, Nobuhiko; Matsumoto, Naomichi; Miyake, Noriko; Taft, Ryan; Mao, Xiao; Bonneau, Dominique Share Save RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureLe Caignec, Cedric; Ory, Benjamin; Lamoureux, Franc Comma Ois; O'Donohue, Marie-Francoise; Orgebin, Emilien; Lindenbaum, Pierre; Teletchea, Stephane; Saby, Manon; Hurst, Anna; Nelson, Katherine; Gilbert, Shawn R.; Wilnai, Yael; Zeitlin, Leonid; Segev, Eitan; Tesfaye, Robel; Nizon, Mathilde; Cogne, Benjamin; Bezieau, Stephane; Geoffroy, Loic; Hamel, Antoine; Mayrargue, Emmanuelle; de Courtivron, Benoit; Decock-Giraudaud, Aliette; Charrier, Celine; Pichon, Olivier; Retiere, Christelle; Redon, Richard; Pepler, Alexander; McWalter, Kirsty; Da Costa, Lydie; Toutain, Annick; Gleizes, Pierre-Emmanuel; Baud'huin, Marc; Isidor, Bertrand Share Save Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin AggregationsFewings, Eleanor; Ziemer, Mirjana; Hortnagel, Konstanze; Reicherter, Kerstin; Larionov, Alexey; Redman, James; Goldgraben, Mae A.; Pepler, Alexander; Hearn, Tim; Firth, Helen; Ha, Tom; Schaller, Joerg; Adams, David J.; Rytina, Ed; van Steensel, Maurice; Tischkowitz, Marc Share Save De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesPlatzer, Konrad; Sticht, Heinrich; Edwards, Stacey L.; Allen, William; Angione, Kaitlin M.; Bonati, Maria T.; Brasington, Campbell; Cho, Megan T.; Demmer, Laurie A.; Falik-Zaccai, Tzipora; Gamble, Candace N.; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander; Pinz, Hailey; Ramos, Luiza; Shinde, Deepali N.; Smith-Hicks, Constance; Stegmann, Alexander P. A.; Stoebe, Petra; Stumpel, Constance T. R. M.; Wilson, Carolyn; Lemke, Johannes R.; Di Donato, Nataliya; Miller, Kenneth G.; Jamra, Rami Share Save Neurologic phenotypes associated with COL4A1/2 mutations Expanding the spectrum of diseaseZagaglia, Sara; Selch, Christina; Nisevic, Jelena Radic; Mei, Davide; Michalak, Zuzanna; Hernandez-Hernandez, Laura; Krithika, S.; Vezyroglou, Katharina; Varadkar, Sophia M.; Pepler, Alexander; Biskup, Saskia; Leao, Miguel; Gaertner, Jutta; Merkenschlager, Andreas; Jaksch, Michaela; Moller, Rikke S.; Gardella, Elena; Kristiansen, Britta Schlott; Hansen, Lars Kjaersgaard; Vari, Maria Stella; Helbig, Katherine L.; Desai, Sonal; Smith-Hicks, Constance L.; Hino-Fukuyo, Naomi; Talvik, Tiina; Laugesaar, Rael; Ilves, Pilvi; Ounap, Katrin; Koerber, Ingrid; Hartlieb, Till; Kudernatsch, Manfred; Winkler, Peter; Schimmel, Mareike; Hasse, Anette; Knuf, Markus; Heinemeyer, Jan; Makowski, Christine; Ghedia, Sondhya; Subramanian, Gopinath M.; Striano, Pasquale; Thomas, Rhys H.; Micallef, Caroline; Thom, Maria; Werring, David J.; Kluger, Gerhard Josef; Cross, J. Helen; Guerrini, Renzo; Balestrini, Simona; Sisodiya, Sanjay M. Share Save 
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