Formation of new chromatin domains determines pathogenicity of genomic duplications
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
Published in Nature (London) (13.10.2016)
Published in Nature (London) (13.10.2016)
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Stepwise ABC system for classification of any type of genetic variant
Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T
Published in European journal of human genetics : EJHG (01.02.2022)
Published in European journal of human genetics : EJHG (01.02.2022)
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Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease
Verbinnen, Iris, Vaneynde, Pieter, Reynhout, Sara, Lenaerts, Lisa, Derua, Rita, Houge, Gunnar, Janssens, Veerle
Published in Biochemical Society transactions (27.08.2021)
Published in Biochemical Society transactions (27.08.2021)
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Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
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
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
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
Published in Nature genetics (01.07.2017)
Published in Nature genetics (01.07.2017)
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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
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
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2013)
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Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease
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
Published in Clinical journal of the American Society of Nephrology (07.09.2017)
Published in Clinical journal of the American Society of Nephrology (07.09.2017)
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A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
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
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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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?
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
Published in European journal of human genetics : EJHG (01.08.2020)
Published in European journal of human genetics : EJHG (01.08.2020)
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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
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
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Published in Journal of medical genetics (01.01.2018)
Published in Journal of medical genetics (01.01.2018)
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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
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
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
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
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
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
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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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
McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M, Houge, Gunnar, Arnesen, Thomas
Published in BMC medical genetics (20.03.2018)
Published in BMC medical genetics (20.03.2018)
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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
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.
Published in Annals of neurology (01.11.2014)
Published in Annals of neurology (01.11.2014)
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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
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
Published in PloS one (11.07.2007)
Published in PloS one (11.07.2007)
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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
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
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36
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
Published in PloS one (15.01.2014)
Published in PloS one (15.01.2014)
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