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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
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G. Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso Share Save
Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortuem, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane Share Save
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder Schmid, Cosima M.; Gregor, Anne; Costain, Gregory; Morel, Chantal F.; Massingham, Lauren; Schwab, Jennifer; Quelin, Chloe; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J.; Cohen, Ana S. A.; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Shamshoni, Jessica Kianmahd; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy Blake; Napier, Melanie P.; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, Andre; Sticht, Heinrich; Chung, Wendy K.; Zweier, Christiane Share Save
Dandy Walker malformation in three unrelated families with biallelic variants in CAPN15 expands the phenotypic spectrum of oculogastrointestinal neurodevelopmental disorder Beaman, M. Makenzie; Guidugli, Lucia; Hammer, Monia; Barrows, Chelsea; Gregor, Anne; McDonald, Marie; Jensen, Courtney; Lee, Sangmoon; Zaki, Maha; Masri, Amira; Gleeson, Joseph; Cohen, Jennifer L. Share Save
De novo missense variants in FBXO11 alter its protein expression and subcellular localization Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane Share Save
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females Polla, D. L.; Bhoj, E. J.; Verheij, J. B. G. M.; Wassink-Ruiter, J. S. Klein; Reis, A.; Deshpande, C.; Gregor, A.; Hill-Karfe, K.; Vulto-van Silfhout, A. T.; Pfundt, R.; Bongers, E. M. H. F.; Hakonarson, H.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Huffels, S. C.; Stumpel, C. T. R. M.; Wennekes, R.; Stegmann, A. P. A.; Reardon, W.; Leenders, E. K. S. M.; de Vries, B. B. A.; Li, D.; Zackai, E.; Ragge, N.; Lynch, S. A.; Cuddapah, S.; van Bokhoven, H.; Zweier, C.; de Brouwer, A. P. M. Share Save
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance Rapaport, Franck; Boisson, Bertrand; Gregor, Anne; Beziat, Vivien; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Jouanguy, Emmanuelle; Puel, Anne; Rosain, Jeremie; Zhang, Qian; Zhang, Shen-Ying; Gleeson, Joseph G.; Quintana-Murci, Lluis; Casanova, Jean-Laurent; Abel, Laurent; Patin, Etienne Share Save
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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases Haskamp, Stefan; Bruns, Heiko; Hahn, Madelaine; Hoffmann, Markus; Gregor, Anne; Loehr, Sabine; Hahn, Jonas; Schauer, Christine; Ringer, Mark; Flamann, Cindy; Frey, Benjamin; Lesner, Adam; Thiel, Christian T.; Ekici, Arif B.; von Hoersten, Stephan; Assmann, Gunter; Riepe, Claudia; Euler, Maximilien; Schaekel, Knut; Philipp, Sandra; Prinz, Joerg C.; Moessner, Rotraut; Kersting, Florina; Sticherling, Michael; Sefiani, Abdelaziz; Lyahyai, Jaber; Sondermann, Wiebke; Oji, Vinzenz; Schulz, Peter; Wilsmann-Theis, Dagmar; Sticht, Heinrich; Schett, Georg; Reis, Andre; Uebe, Steffen; Frey, Silke; Hueffmeier, Ulrike Share Save
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A.; Lalani, Seema R.; Rosenfeld, Jill A.; Azamian, Mahshid S.; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Noh, Grace J.; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E.; Gavrilova, Ralitza; Mirzaa, Ghayda M.; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A.; Ekici, Arif B.; Gregor, Anne; van de Laar, Ingrid; Zweierl, Christiane Share Save
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Konrad, Enrico D. H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C. J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja, I; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane Share Save
Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors Li, Hongda; Saucedo-Cuevas, Laura; Yuan, Ling; Ross, Danica; Johansen, Anide; Sands, Daniel; Stanley, Valentina; Guemez-Gamboa, Alicia; Gregor, Anne; Evans, Todd; Chen, Shuibing; Tan, Lei; Molina, Henrik; Sheets, Nicholas; Shiryaev, Sergey A.; Terskikh, Alexey, V; Gladfelter, Amy S.; Shresta, Sujan; Xu, Zhiheng; Gleeson, Joseph G. Share Save
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome Guemez-Gamboa, Alicia; Caglayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy-Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Issa, Mahmoud Y.; Per, Huseyin; Gumus, Hakan; Bayram, Ayse Kacar; Kumandas, Sefer; Akgumus, Gozde Tugce; Erson-Omay, Emine Z.; Yasuno, Katsuhito; Bilguvar, Kaya; Heimer, Gali; Pillar, Nir; Shomron, Noam; Weissglas-Volkov, Daphna; Porat, Yuval; Einhorn, Yaron; Gabriel, Stacey; Ben-Zeev, Bruria; Gunel, Murat; Gleeson, Joseph G. Share Save
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder Gregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M. A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Univ, Washington Ctr Mendelian Genomics D. D. D.; Reis, Andre; Sticht, Heinrich; Zweier, Christiane Share Save
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