Not logged in CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025) Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A. Share Save
De 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 Share Save
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Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing Miceikaite, Ieva; Hao, Qin; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Torring, Pernille M.; Kristiansen, Britta S.; Ousager, Lilian B.; Sperling, Lene; Ibsen, Mette H.; Loser, Katrin; Larsen, Martin J. Share Save
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (Feb, 10.1038/s41431-024-01560-8, 2024) Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse Share Save
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse Share Save
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation Accogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J. Share Save
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease Kumar, Sheetal; Borisov, Oleg; Maj, Carlo; Ralser, Damian J.; Humbatova, Aytaj; Hanneken, Sandra; Schmieder, Astrid; Gross, Janina; Maintz, Laura; Heineke, Andre; Knuever, Jana; Fagerberg, Christina; Parmentier, Laurent; Anemueller, Waltraud; Oji, Vinzenz; Tantcheva-Poor, Iliana; Folster-Holst, Regina; Wenzel, Joerg; Krawitz, Peter M.; Frank, Jorge; Betz, Regina C.; Gg, A. I. R. E. is van Laar Share Save
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing Miceikaite, Ieva; Hao, Qin; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Torring, Pernille M.; Kristiansen, Britta S.; Ousager, Lilian B.; Sperling, Lene; Ibsen, Mette H.; Loser, Katrin; Larsen, Martin J. Share Save
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology Oppermann, Henry; Marcos-Graneda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoe; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Abou Jamra, Rami; Nieto, Marta; Tumer, Zeynep; Platzer, Konrad Share Save
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity Assing, Kristian; Jorgensen, Sofie E. E.; Sandgaard, Katrine S. S.; De Keukeleere, Kerstin; Hansen, Marie B.; Petersen, Mikkel S. S.; Hartling, Ulla B. B.; de Vaal, Thanis M. K.; Nielsen, Christian; Jakobsen, Marianne A. A.; Watt, Eleanor; Adams, Stuart; Hao, Qin; Fagerberg, Christina; Mogensen, Trine H. H. Share Save
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A. Share Save
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene association Cesana, M.; Vaccaro, L.; Larsen, M. J.; Kibaek, M.; Micale, L.; Riccardo, S.; Annunziata, P.; Colantuono, C.; Di Filippo, L.; De Brasi, D.; Castori, M.; Fagerberg, C.; Acquaviva, F.; Cacchiarelli, D. Share Save
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A.; Scott, Daniel J.; Ziarek, Joshua J.; Gordon, Sarah L.; Baker, Kate Share Save
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans Qi, Cai; Feng, Irena; Costa, Ana Rita; Pinto-Costa, Rita; Neil, Jennifer E.; Caluseriu, Oana; Li, Dong; Ganetzky, Rebecca D.; Brasch-Andersen, Charlotte; Fagerberg, Christina; Hansen, Lars Kjaersgaard; Bupp, Caleb; Muraresku, Colleen Clarke; Ruan, Xiangbin; Kang, Bowei; Hu, Kaining; Zhong, Rong; Brites, Pedro; Bhoj, Elizabeth J.; Hill, Robert Sean; Falk, Marni J.; Hakonarson, Hakon; Kahle, Kristopher T.; Sousa, Monica M.; Walsh, Christopher A.; Zhang, Xiaochang Share Save
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders Woike, Daniel; Wang, Emily; Tibbe, Debora; Hassani Nia, Fatemeh; Failla, Antonio Virgilio; Kibaek, Maria; Overgard, Tinett Martesen; Larsen, Martin J.; Fagerberg, Christina R.; Barsukov, Igor; Kreienkamp, Hans-Juegen Share Save
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder Courraud, Jeremie; Chater-Diehl, Eric; Durand, Benjamin; Vincent, Marie; del Mar Muniz Moreno, Maria; Boujelbene, Imene; Drouot, Nathalie; Genschik, Loreline; Schaefer, Elise; Nizon, Mathilde; Gerard, Benedicte; Abramowicz, Marc; Cogne, Benjamin; Bronicki, Lucas; Burglen, Lydie; Barth, Magalie; Charles, Perrine; Colin, Estelle; Coubes, Christine; David, Albert; Delobel, Bruno; Demurger, Florence; Passemard, Sandrine; Denomme, Anne-Sophie; Faivre, Laurence; Feger, Claire; Fradin, Melanie; Francannet, Christine; Genevieve, David; Goldenberg, Alice; Guerrot, Anne-Marie; Isidor, Bertrand; Johannesen, Katrine M.; Keren, Boris; Kibaek, Maria; Kuentz, Paul; Mathieu-Dramard, Michele; Demeer, Benedicte; Metreau, Julia; Steensbjerre Moller, Rikke; Moutton, Sebastien; Pasquier, Laurent; Pilekaer Sorensen, Kristina; Perrin, Laurence; Renaud, Mathilde; Saugier, Pascale; Rio, Marlene; Svane, Joane; Thevenon, Julien; Tran Mau Them, Frederic; Tronhjem, Cathrine Elisabeth; Vitobello, Antonio; Layet, Valerie; Auvin, Stephane; Khachnaoui, Khaoula; Birling, Marie-Christine; Drunat, Severine; Bayat, Allan; Dubourg, Christele; El Chehadeh, Salima; Fagerberg, Christina; Mignot, Cyril; Guipponi, Michel; Bienvenu, Thierry; Herault, Yann; Thompson, Julie; Willems, Marjolaine; Mandel, Jean-Louis; Weksberg, Rosanna; Piton, Amelie Share Save
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W. Share Save
National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017 Lund, Ida C. B.; Petersen, Olav B.; Becher, Naja H.; Lildballe, Dorte L.; Jorgensen, Finn S.; Ambye, Louise; Skibsted, Lillian; Ernst, Anja; Jensen, Ann N.; Fagerberg, Christina; Brasch-Andersen, Charlotte; Tabor, Ann; Zingenberg, Helle J.; Norgaard, Pernille; Almind, Gitte J.; Vestergaard, Else Marie; Vogel, Ida Share Save
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism Guo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K.; Hernan, Rebecca; Alkuraya, Fowzan S.; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A.; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J.; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frederic; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Dreyer, Inken; Tsai, Anne Chun-hui; Slegesky, Valerie; McGee, Rose B.; Daniels, Brina; Sellars, Elizabeth A.; Carpenter, Lori A.; Schaefer, Bradley; Sacoto, Maria J. Guillen; Begtrup, Amber; Schnur, Rhonda E.; Punj, Sumit; Wentzensen, Ingrid M.; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A.; Chen, Chao; Eichler, Evan E.; Xia, Kun Share Save
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