Formation of new chromatin domains determines pathogenicity of genomic duplications von Franke, Martin, Ibrahim, Daniel M., Andrey, Guillaume, Schwarzer, Wibke, Heinrich, Verena, Schöpflin, Robert, Kraft, Katerina, Kempfer, Rieke, Jerković, Ivana, Chan, Wing-Lee, Spielmann, Malte, Timmermann, Bernd, Wittler, Lars, Kurth, Ingo, Cambiaso, Paola, Zuffardi, Orsetta, Houge, Gunnar, Lambie, Lindsay, Brancati, Francesco, Pombo, Ana, Vingron, Martin, Spitz, Francois, Mundlos, Stefan

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Stepwise ABC system for classification of any type of genetic variant von Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T

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Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease von Verbinnen, Iris, Vaneynde, Pieter, Reynhout, Sara, Lenaerts, Lisa, Derua, Rita, Houge, Gunnar, Janssens, Veerle

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Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents von Smajlagić, Dinka, Lavrichenko, Ksenia, Berland, Siren, Helgeland, Øyvind, Knudsen, Gun Peggy, Vaudel, Marc, Haavik, Jan, Knappskog, Per Morten, Njølstad, Pål Rasmus, Houge, Gunnar, Johansson, Stefan

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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation von Yost, Shawn, de Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda M, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah, Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathon, Kops, Geert J P L, Rahman, Nazneen

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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis von Coste, Bertrand, Houge, Gunnar, Murray, Michael F., Stitziel, Nathan, Bandell, Michael, Giovanni, Monica A., Philippakis, Anthony, Hoischen, Alexander, Riemer, Gunnar, Steen, Unni, Steen, Vidar Martin, Mathur, Jayanti, Cox, James, Lebo, Matthew, Rehm, Heidi, Weiss, Scott T., Wood, John N., Maas, Richard L., Sunyaev, Shamil R., Patapoutian, Ardem

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A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome von Bredrup, Cecilie, Stokowy, Tomasz, McGaughran, Julie, Lee, Samuel, Sapkota, Dipak, Cristea, Ileana, Xu, Linda, Tveit, Kåre Steinar, Høvding, Gunnar, Steen, Vidar Martin, Rødahl, Eyvind, Bruland, Ove, Houge, Gunnar

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Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease von Skrunes, Rannveig, Tøndel, Camilla, Leh, Sabine, Larsen, Kristin Kampevold, Houge, Gunnar, Davidsen, Einar Skulstad, Hollak, Carla, van Kuilenburg, André B P, Vaz, Frédéric M, Svarstad, Einar

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The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance? von Høberg-Vetti, Hildegunn, Ognedal, Elisabet, Buisson, Adrien, Vamre, Tone Bøe Aaman, Ariansen, Sarah, Hoover, Jacqueline M, Eide, Geir Egil, Houge, Gunnar, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Bjorvatn, Cathrine, Knappskog, Per Morten

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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype von Lamers, Ideke J.C., Reijnders, Margot R.F., Venselaar, Hanka, Kraus, Alison, Jansen, Sandra, de Vries, Bert B.A., Houge, Gunnar, Gradek, Gyri Aasland, Seo, Jieun, Choi, Murim, Chae, Jong-Hee, van der Burgt, Ineke, Pfundt, Rolph, Letteboer, Stef J.F., van Beersum, Sylvia E.C., Dusseljee, Simone, Brunner, Han G., Doherty, Dan, Kleefstra, Tjitske, Roepman, Ronald

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability von Asadollahi, Reza, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris, Rauch, Anita

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes von Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia

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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg von Vedder, Anouk C, Linthorst, Gabor E, Houge, Gunnar, Groener, Johannna E M, Ormel, Els E, Bouma, Berto J, Aerts, Johannes M F G, Hirth, Asle, Hollak, Carla E M

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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies von Hamanaka, Kohei, Sugawara, Yuji, Shimoji, Takeyoshi, Nordtveit, Tone Irene, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Aukrust, Ingvild, Houge, Gunnar, Mitsuhashi, Satomi, Takata, Atsushi, Iwama, Kazuhiro, Alkanaq, Ahmed, Fujita, Atsushi, Imagawa, Eri, Mizuguchi, Takeshi, Miyake, Noriko, Miyatake, Satoko, Matsumoto, Naomichi

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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 von Zaveri, Hitisha P, Beck, Tyler F, Hernández-García, Andrés, Shelly, Katharine E, Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E, Cheung, Sau Wai, Lalani, Seema R, Scott, Daryl A

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NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report von McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M, Houge, Gunnar, Arnesen, Thomas

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Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature von Stige, Kjersti Eline, Gjerde, Ivar Otto, Houge, Gunnar, Knappskog, Per Morten, Tzoulis, Charalampos

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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits von Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.

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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes von Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia

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GLA insufficiency should not be called Fabry disease von Houge, Gunnar, Langeveld, Mirjam, Oliveira, Joao-Paulo

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