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Gunnar Houge

Professor
  • E-mailGunnar.Houge@uib.no
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
  • Postal Address
    Postboks 7804
    5020 Bergen
Books
  • Houge, Gunnar; Eknes, Jarle; Mæhle, Ivar Reinholdt. 2018. Utviklingshemming. Årsaker og konsekvenser. 2.utgave. Universitetsforlaget. 288 pages. ISBN: 9788215030876.
  • Mæhle, Ivar; Eknes, Jarle; Houge, Gunnar. 2012. Utviklingshemning - Årsaker og konsekvenser. Universitetsforlaget. 270 pages. ISBN: 978-82-15-01300-8.
Journal articles
  • Holtan, Josephine Prener; Teigen, Knut; Aukrust, Ingvild; Bragadottir, Ragnheidur; Houge, Gunnar. 2019. Dominant ARL3-related retinitis pigmentosa. Ophthalmic Genetics. 40: 124-128. doi: 10.1080/13816810.2019.1586965
  • Marbach, Felix; Rustad, Cecilie; Rieß, Angelika; Đukić, Dejan; Hsieh, Tzung-Chien; Jobani, Itanar; Prescott, Trine; Bevot, Andrea; Erger, Florian; Houge, Gunnar; Redfors, Maria; Altmueller, Janine; Stokowy, Tomasz; Gilissen, Christian; Kubisch, Christian; Scarano, Emanuela; Mazzanti, Laura; Fiskerstrand, Torunn v/dødsbo; Krawitz, Peter M.; Lessel, Davor; Netzer, Christian. 2019. The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. American Journal of Human Genetics. 104: 749-757. doi: 10.1016/j.ajhg.2019.02.021
  • Berentsen, Ragnhild Drage; Haukanes, Bjørn Ivar; Juliusson, Petur Benedikt; Rosendahl, Karen; Houge, Gunnar. 2018. A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. Molecular Syndromology. 1-7. doi: 10.1159/000492418
  • Berland, Siren; Toft-Bertelsen, Trine; Aukrust, Ingvild; Byska, Jan; Vaudel, Marc; Bindoff, Laurence; MacAulay, Nanna; Houge, Gunnar. 2018. A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. Molecular Case Studies. 4.
  • 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. 2018. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. European Journal of Human Genetics. doi: 10.1038/s41431-018-0323-z
  • 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. 2018. De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. European Journal of Human Genetics. 27: 378-383. doi: 10.1038/s41431-018-0289-x
  • Hamilton, Mark J.; Caswell, Richard C.; Canham, Natalie; Cole, Trevor; Firth, Helen V.; Foulds, Nicola; Heimdal, Ketil Riddervold; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth A.; Park, Soo-Mi; Robert, Leema; Rustad, Cecilie; Wakeling, Emma; Wilkie, Andrew O.M.; Twigg, Stephen R. F.; Suri, Mohnish. 2018. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. Journal of Medical Genetics. 55: 28-38. doi: 10.1136/jmedgenet-2017-104620
  • Hemati, Parisa; Revah-Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte Gjøl; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano, Michelle; Aggarwal, Vimla S.; Millan, Francisca; Sattler-Holtrop, Shannon G.; Caro-Llopis, Alfonso; Pillar, Nir; Baker, Janice; Freedman, Rebecca; Kroes, Hester Y.; Sacharow, Stephanie; Stong, Nick; Lapunzina, Pablo; Schneider, Michael C.; Mendelsohn, Nancy J.; Singleton, Amanda; Loik Ramey, Valerie; Wou, Karen; Kuzminsky, Alla; Monfort, Sandra; Weiss, Monica; Doyle, Samantha; Iglesias, Alejandro; Martinez, Francisco; Mckenzie, Fiona; Orellana, Carmen; van Gassen, Koen L.I.; Palomares, Maria; Bazak, Lily; Lee, Andy; Bircher, Ana; Basel-Vanagaite, Lina; Hafström, Maria; Houge, Gunnar; Goldstein, David B.; Anyane-Yeboa, Kwame. 2018. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. American Journal of Medical Genetics. Part A. 176: 2259-2275. doi: 10.1002/ajmg.a.40472
  • Mc Tiernan, Nina; Støve, Svein Isungset; Aukrust, Ingvild; Mårli, Marita Torrissen; Myklebust, Line Merethe; Houge, Gunnar; Arnesen, Thomas. 2018. 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. BMC Medical Genetics. 19:47: 1-9. doi: 10.1186/s12881-018-0559-z
  • Menke, Leonie A.; Gardeitchik, Thatjana; Hammond, Peter; Heimdal, Ketil Riddervold; Houge, Gunnar; Hufnagel, Sophia B.; Ji, Jianling; Johansson, Stefan; Kant, Sarina G.; Kinning, Esther; Leon, Eyby L.; Newbury-Ecob, Ruth; Paolacci, Stefano; Pfundt, Rolph; Ragge, Nicola K.; Rinne, Tuula; Ruivenkamp, Claudia; Saitta, Sulagna C.; Sun, Yu; Tartaglia, Marco; Terhal, Paulien A.; van Essen, Anthony J.; Vigeland, Magnus Dehli; Xiao, Bing; Hennekam, Raoul C. 2018. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. American Journal of Medical Genetics. Part A. 176: 862-876. doi: 10.1002/ajmg.a.38626
  • Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer; Di Maria, Emilio; Kloth, Katja; Cristea-Osuagwu, Ileana; Sapp, Julie; Darling, Thomas; Huryn, Laryssa; Tranebjærg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rødahl, Eyvind; Bruland, Ove; Biesecker, Leslie; Houge, Gunnar; Bredrup, Cecilie. 2018. Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. American Journal of Human Genetics. 103: 976-983. doi: 10.1016/j.ajhg.2018.10.013
  • Cohen, Julie S.; Srivastava, Siddharth C.; Farwell Hagman, Kelly D.; Shinde, Deepali N.; Huether, Robert G.; Darcy, Diana; Wallerstein, R.; Houge, Gunnar; Berland, Siren; Monaghan, Kristin G.; Poretti, Andrea; Wilson, Ashley L.; Chung, Wendy K.; Fatemi, Ali. 2017. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clinical Genetics. 91: 697-707. doi: 10.1111/cge.12861
  • Eikrem, Øystein Solberg; Skrunes, Rannveig; Tøndel, Camilla; Leh, Sabine Maria; Houge, Gunnar; Svarstad, Einar; Marti, Hans-Peter. 2017. Pathomechanisms of renal Fabry disease. Cell and Tissue Research. 369: 53-62. doi: 10.1007/s00441-017-2609-9
  • Houge, Gunnar; Del Picchia, Jerome. 2017. The inner life and structure of ESHG. European Journal of Human Genetics. 25: S16-S19. doi: 10.1038/ejhg.2017.144
  • Kääriäinen, Helena; Houge, Gunnar. 2017. Secretary Generals on recent ESHG presidents (2003-2015). European Journal of Human Genetics. 25: S20-S22. doi: 10.1038/ejhg.2017.145
  • 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. 2017. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. American Journal of Human Genetics. 101: 824-832. doi: 10.1016/j.ajhg.2017.09.015
  • Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn Ivar; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O.M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A. 2017. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. 26: 64-74. Published 2017-11-27. doi: 10.1038/s41431-017-0038-6
  • Skrunes, Rannveig; Tøndel, Camilla; Leh, Sabine Maria; Larsen, Kristin Kampevold; Houge, Gunnar; Davidsen, Einar Skulstad; Hollak, Carla E.M.; Van Kuilenburg, André B.P.; Vaz, Frédéric M.; Svarstad, Einar. 2017. Long-term dose-dependent agalsidase effects on kidney histology in fabry disease. American Society of Nephrology. Clinical Journal. 12: 1470-1479. doi: 10.2215/CJN.01820217
  • Storbeck, Markus; Eriksen, Beate Horsberg; Unger, Andreas; Holker, Irmgard; Aukrust, Ingvild; Martinez-Carrera, Lillian A.; Linke, Wolfgang A.; Ferbert, Andreas; Heller, Raoul; Vorgerd, Matthias; Houge, Gunnar; Wirth, Brunhilde. 2017. Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. European Journal of Human Genetics. 25: 1040-1048. doi: 10.1038/ejhg.2017.98
  • Telegrafi, Aida; Webb, Bryn D; Robbins, Sarah M; Speck-Martins, Carlos E; FitzPatrick, David R.; Fleming, Leah; Redett, Richard; Dufke, Andreas; Houge, Gunnar; van Harssel, Jeske J T; Verloes, Alain; Manoli, Irini; Engle, Elizabeth C; Jabs, Ethylin W.; Valle, David; Carey, John; Hoover-Fong, Julie E; Sobreira, Nara L M. 2017. Identification of STAC3 variants in non-Native American families with overlapping features of Carey?Fineman?Ziter syndrome and Moebius syndrome. American Journal of Medical Genetics. Part A. 173: 2763-2771. doi: 10.1002/ajmg.a.38375
  • 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. 2017. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nature Genetics. 49: 1148-1151. doi: 10.1038/ng.3883
  • Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte Gjøl; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per. 2016. The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica. 95: 240-246. doi: 10.1111/aos.13273
  • 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. 2016. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 538: 265-269. doi: 10.1038/nature19800
  • Lien, Espen; Våtevik, Anne Karine; Østern, Rune André Helland; Haukanes, Bjørn Ivar; Houge, Gunnar. 2016. A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. Annals of Neurology. 80: 311-312. doi: 10.1002/ana.24699
  • Schmidt, Susanne; Houge, Gunnar; Hunn, Bente; Hoxmark, Lise Beate; Nag, Heidi Elisabeth. 2016. A structured assessment of motor function and behavior in patients with Kleefstra syndrome. European Journal of Medical Genetics. 59: 240-248. doi: 10.1016/j.ejmg.2016.01.004
  • Stokowy, Tomasz; Garbulowski, Mateusz; Fiskerstrand, Torunn; Holdhus, Rita; Labun, Kornel; Sztromwasser, Pawel Szymon; Gilissen, Christian; Hoischen, Alexander; Houge, Gunnar; Petersen, Kjell; Jonassen, Inge; Steen, Vidar Martin. 2016. RareVariantVis: New tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data. Bioinformatics. 32: 3018-3020. doi: 10.1093/bioinformatics/btw359
  • Horn, Denise; Prescon, Trine; Houge, Gunnar; Brække, Kristin; Rosendahl, Karen; Nishimura, Gen; Fitzpatrick, David R.; Spranger, Jürgen. 2015. A novel oculo-skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. European Journal of Medical Genetics. 58: 387-391. doi: 10.1016/j.ejmg.2015.06.003
  • Houge, Gunnar. 2015. Hvor går grensen mellom diagnostikk og forskning? :. Tidsskrift for Den norske legeforening. 135: 1632. doi: 10.4045/tidsskr.15.0817
  • Houge, Gunnar; Haesen, Dorien; Vissers, Lisenka E.L.M.; Mehta, Sarju; Parker, Michael J.; Wright, Michael; Vogt, Julie; McKee, Shane; Tolmie, John L.; Cordeiro, Nuno; Kleefstra, Tjitske; Willemsen, Marjolein H.; Reijnders, Margot R.F.; Berland, Siren; Hayman, Eli; Lahat, Eli; Brilstra, Eva H.; Van Gassen, Koen L.I.; Zonneveld-Huijssoon, Evelien; De Bie, Charlotte I.; Hoischen, Alexander; Eichler, Evan E.; Holdhus, Rita; Steen, Vidar Martin; Doskeland, Stein Ove; Hurles, Matthew E.; FitzPatrick, David R.; Janssens, Veerle. 2015. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. Journal of Clinical Investigation. 125: 3051-3062. doi: 10.1172/JCI79860
  • Abarca, Hugo; Christensen, Anne Elisabeth; Trubnykova, Milana; Haugen, Olav H.; Høvding, Gunnar Jr; Tveit, Kåre Steinar; Houge, Gunnar; Bredrup, Cecilie; Hennekam, Raoul C. 2014. Ocular pterygium - digital keloid dysplasia. American Journal of Medical Genetics. Part A. 164: 2901-2907. doi: 10.1002/ajmg.a.36713
  • Apelland, Turid; Gude, Einar; Strøm, Erik Heyerdahl; Gullestad, Lars; Eiklid, Kristin Louise; Månsson, Jan-Eric; Reinholt, Finn P.; Houge, Gunnar; Dahl, Christen Peder; Almaas, Vibeke Marie; Heiberg, Arvid. 2014. Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease. Heart. 100: 1793-1798. doi: 10.1136/heartjnl-2014-305616
  • Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine. 2014. 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European Journal of Medical Genetics. 57: 520-523. doi: 10.1016/j.ejmg.2014.06.003
  • Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland; Bongers, Ernie M.H.F.; de Leeuw, Nicole; Pfundt, Rolph; Fannemel, Madeleine; Rødningen, Olaug Kristin; Brendehaug, Atle; Haukanes, Bjørn Ivar; Hovland, Randi; Helland, Gunnar; Houge, Gunnar. 2014. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. American Journal of Medical Genetics. Part A. 164: 1622-1626. doi: 10.1002/ajmg.a.36498
  • Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A.; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A.B.; Prescon, Trine; Anderson, Carl A.; Rainger, Jacqueline; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M.; Seawright, Anne; Soares, Dinesh; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A.; van Heyningen, Veronica; Taylor, Martin S.; Yakut, Tahsin; Knappskog, Per; Hurles, Matthew E.; Ponting, Chris P.; Lupski, James R.; Houge, Gunnar; Fitzpatrick, David R. 2014. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 94: 915-923. doi: 10.1016/j.ajhg.2014.05.005
  • Tol, Linda van der; Cassiman, David; Houge, Gunnar; Janssen, Mirian C.; Lachmann, Robin; Linthorst, Gabor E.; Ramaswami, Uma; Sommer, Claudia; Tøndel, Camilla; West, Michael; Weidemann, Frank; Wijburg, Frits; Svarstad, Einar; Hollak, Carla E.M.; Biegstraaten, Marieke. 2014. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Reports. 17: 83-90. doi: 10.1007/8904_2014_342
  • Vaags, Andrea K.; Bowdin, Sarah; Smith, Mary-Lou; Gilbert-Dussardier, Brigitte; Brocke, Katja Sara; Sinopoli, Katia; Gilles, Cindy; Haaland, Bjørg Tove; Vincent-Delorme, Catherine; Lagrue, Emmanuelle; Harbuz, Radu; Walker, Susan; Marshall, Christian R.; Houge, Gunnar; Kalscheuer, Vera M.; Scherer, Stephen W.; Minassian, Berge A. 2014. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology. 76: 758-764. doi: 10.1002/ana.24274
  • Zaveri, Hitisha P.; Beck, Tyler F.; Hernández-Garcia, 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. 2014. Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLOS ONE. 9. 10 pages. doi: 10.1371/journal.pone.0085600
  • de Leeuw, Nicole; Houge, Gunnar. 2014. Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. American Journal of Human Genetics. 94: 153-154. doi: 10.1016/j.ajhg.2013.11.016
  • van de Kar, A. L.; Houge, Gunnar; Shaw, A. C.; De Jong, D.; van Belzen, M. J.; Peters, D. J. M.; Hennekam, Raoul C.M. 2014. Keloids in Rubinstein-Taybi syndrome: a clinical study. British Journal of Dermatology. 171: 615-621. doi: 10.1111/bjd.13124
  • 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. 2013. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics. 21: 1100-1104. doi: 10.1038/ejhg.2013.17
  • Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J.G.; Temple, I. Karen; Houge, Gunnar. 2013. Evidence for anticipation in Beckwith-Wiedemann syndrome. European Journal of Human Genetics. 21: 1344-1348. doi: 10.1038/ejhg.2013.71
  • Bertelsen, Anne Kjørsvik; Tøndel, Camilla; Krohn, Jørgen Gitlesen; Bull, Nils; Aarseth, Jan Harald; Houge, Gunnar; Mellgren, Svein Ivar; Vedeler, Christian A. 2013. Small fibre neuropathy in Fabry disease. Journal of Neurology. 260: 917-919. doi: 10.1007/s00415-012-6800-3
  • Coste, Bertrand; Houge, Gunnar; Murray, Michael; 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; Wood, John; Maas, Richard L.; Sunyaev, Shamil R.; Patapoutian, Ardem. 2013. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proceedings of the National Academy of Sciences of the United States of America. 110: 4667-4672. doi: 10.1073/pnas.1221400110
  • Lybæk, Helle; de Bruijn, Diederik; den Engelsman-van Dijk, Anke H.A.; Vanichkina, Darya; Nepal, Chirag; Brendehaug, Atle; Houge, Gunnar. 2013. RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. Epigenetics. 9: 416-427. doi: 10.4161/epi.27474
  • Rudnik-Schöneborn, Sabine; Senderek, Jan; Jen, Joanna C.; Houge, Gunnar; Seeman, Pavel; Puchmajerova, Alena; Graul-Neumann, Luitgard; Seidel, Ulrich; Korinthenberg, Rudolf; Kirschner, Janbernd; Seeger, Jürgen; Ryan, Monique M.; Muntoni, Francesco; Steinlin, Maja; Sztriha, Laszlo; Colomer, Jaume; Hübner, Christoph; Brockmann, Knut; Van Maldergem, Lionel; Schiff, Manuel; Holzinger, Andreas; Barth, Peter; Reardon, William; Yourshaw, Michael; Nelson, Stanley F.; Eggermann, Thomas; Zerres, Klaus. 2013. Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations. Neurology. 80: 438-446. doi: 10.1212/WNL.0b013e31827f0f66
  • Tøndel, Camilla; Bostad, Leif; Larsen, Kristin Kampevold; Hirth, Asle; Vikse, Bjørn Egil; Houge, Gunnar; Svarstad, Einar. 2013. Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. Journal of the American Society of Nephrology. 24: 137-148. doi: 10.1681/ASN.2012030316
  • Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstatt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Herbert; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O.; Krajewska-Walasek, Małgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Dramard, Michéle Mathieu; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Özkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G. Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann Josef; Zeschnigk, Michael; Wollnik, Bernd. 2013. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics. 22: 5121-5135. doi: 10.1093/hmg/ddt366
  • de Voer, Richarda M.; van Kessel, Ad Geurts; Weren, Robbert D.A.; Ligtenberg, Marjolijn J.L.; Smeets, Dominique; Fu, Lei; Vreede, Lilian; Kamping, Eveline J.; Verwiel, Eugène T.P.; Hahn, Marc-Manuel; Ariaans, Maayke; Spruijt, Liesbeth; van Essen, Ton; Houge, Gunnar; Schackert, Hans K.; Sheng, Jian Q.; Venselaar, Hanka; van Ravenswaaij-Arts, Conny M.A.; van Krieken, J. Han J.M.; Hoogerbrugge, Nicoline; Kuiper, Roland P. 2013. Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer. Gastroenterology. 145: 544-547. doi: 10.1053/j.gastro.2013.06.001
  • Anderson, Beverley H.; Kasher, Paul R.; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Daly, Sarah B.; Dickerson, Jonathan E.; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanna; Abdel-Salem, Ghada M.H.; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E.; Buckard, Johannes A.; Chitayat, David; Chong, Wui K.; Cordelli, Duccio M.; Ferreira, Patrick; Fluss, Joel; Forrest, Ewan H.; Franzoni, Emilio; Garone, Catarina; Hammans, Simon R.; Houge, Gunnar; Hughes, Imelda; Jacquemont, Sébastien; Jeannet, Pierre-Yves; Jefferson, Rosalind J.; Kumar, Ram; Kutschke, Georg; Lundberg, Staffan; Lourenco, Charles Marques; Mehta, Ramesh; Naidu, Sakkubai; Nischal, Ken K.; Nunes, Luis; Ounap, Katrin; Philippart, Michel; Prabhakar, Prab; Risen, Sarah R.; Schiffmann, Raphael; Soh, Calvin; Stephenson, John B.P.; Stewart, Helen; Stone, Jon; Tolmie, John L.; van der Knaap, Marjo S.; Vieira, José P.; Vilain, Catheline N.; Wakeling, Emma L.; Wermenbol, Vanessa; Whitney, Andrea; Lovell, Simon C.; Meyer, Stefan; Livingston, John H.; Baerlocher, Gabriela M.; Black, Graeme C.M.; Rice, Gillian I.; Crow, Yanick J. 2012. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics. 44: 338-U1604. doi: 10.1038/ng.1084
  • Banka, Siddharta; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J.; Crow, Yanick J.; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P.M.; Donnelly, Deirdre E.; Berland, Siren; Houge, Gunnar; Morton, Jenny E.; Oley, Christine; Revencu, Nicole; Park, Soo-Mi; Davies, Sally J.; Fry, Andrew E.; Lynch, Sally Ann; Gill, Harinder; Schweiger, Susann; Lam, Wayne W.K.; Tolmie, John; Mohammed, Shehla N.; Hobson, Emma; Smith, Audrey; Blyth, Moira; Bennett, Christopher; Vasudevan, Pradeep C.; Garcia-Minaur, Sixto; Henderson, Alex; Goodship, Judith; Wright, Michael J.; Fisher, Richard; Gibbons, Richard; Price, Susan M.; de Silva, Deepthi C.; Temple, I. Karen; Collins, Amada L.; Lachlan, Katherine; Elmslie, Frances; McEntagart, Meriel; Castle, Bruce; Clayton-Smith, Jill; Black, Graeme C.M.; Donnai, Dian. 2012. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics. 20: 381-388. doi: 10.1038/ejhg.2011.220
  • Horvath, Rita; Czermin, Birgit; Gulati, Sweena; Demuth, Stephanie; Houge, Gunnar; Pyle, Angela; Dineiger, Christine; Blakely, Emma L.; Hassani, Adam; Foley, Charlotte; Brodhun, Michael; Storm, Karin; Kirschner, Janbernd; Gorman, Grainne S.; Lochmuller, Hanns; Holinski-Feder, Elke; Taylor, Robert W.; Chinnery, Patrick F. 2012. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Journal of Neurology, Neurosurgery and Psychiatry. 83: 174-178. doi: 10.1136/jnnp-2011-301258
  • Houge, Gunnar; Rasmussen, Inger Hellerdal; Hovland, Randi. 2012. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. Molecular Syndromology. 2: 60-63. doi: 10.1159/000335159
  • Linthorst, Gabor E.; Burlina, Allessandro; Cecchi, Franco; Cox, Timothy M.; Fletcher, Janice M.; Feldt-Rasmussen, Ulla; Giugliani, Roberto; Hollak, Carla E.M.; Houge, Gunnar; Hughes, Derralynn A.; Iikka, Kantola; Lachmann, Robin; Lopez, Monica; Ortiz, Alberto; Parini, Rosella; Rivera, Alberto; Rolfs, Arndt; Ramaswami, Uma; Svarstad, Einar; Tøndel, Camilla; Tylki-Szymanska, Anna; Vujkovac, Bojan; Waldek, Stephen; West, Michael; Weidemann, Frank; Mehta, Atul. 2012. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage. JIMD Reports. doi: 10.1007/8904_2012_160
  • Sorte, Hanne Sørmo; Mørkrid, Lars; Rødningen, Olaug Kristin; Kulseth, Mari Ann; Stray-Pedersen, Asbjørg; Matthijs, Gert; Race, Valerie; Houge, Gunnar; Fiskerstrand, Torunn; Bjurulf, Bjørn; Lyle, Robert; Prescon, Trine. 2012. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. European Journal of Medical Genetics. 55: 196-202. doi: 10.1016/j.ejmg.2012.01.003
  • Willemsen, M.H.; Vulto-van Silfhout, A.T.; Nillesen, W.M.; Wissink-Lindhout, W.M.; van Bokhoven, H.; Philip, N.; Berry-Kravis, E.M.; Kini, U.; van Ravenswaaij-Arts, C.M.A; Delle Chiaie, B.; Innes, A.M.M.; Houge, Gunnar; Kosonen, T.; Cremer, K.; Fannemel, Madeleine; Stray-Pedersen, Asbjørg; Reardon, W.; Ignatius, J.; Lachlan, K.; Mircher, C.; Helderman van den Enden, P.T.J.M.; Mastebroek, M.; Cohn-Hokke, P.E.; Yntema, H.G.; Drunat, S.; Kleefstra, Tjitske. 2012. Update on Kleefstra Syndrome. Molecular Syndromology. 2: 202-212. doi: 10.1159/000335648
  • de Voer, Richarda M.; van Kessel, Ad Geurts; van Krieken, Han J.M.; Smeets, Dominique; Vreede, Lillian; Kamping, Eveline J.; Verwiel, Eugene T,; van der Post, Chella R. S.; Ariaans, Maaike; Spruit, Liesbeth; Houge, Gunnar; van Essen, Ton; van Ravenswaaij-Arts, Conny M.A.; Ligtenberg, MJL; Hoogerbrugge, Nicoline; Kuiper, Roland P. 2012. Constitutional Anomalies in Spindle Assembly Checkpoint Components: Risk Factors for Mosaic Aneuploidy and Cancer. Cellular Oncology. 35: S38-S39.
  • Benko, Sabine; Gordon, Christopher P.; Mallet, Delphine; Sreenivasan, Rajini; Thauvin-Robinet, Christel; Brendehaug, Atle; Thomas, Sophie; Bruland, Ove; David, Michel; Nicolino, Marc; Labalme, Audrey; Sanlaville, Damien; Callier, Patrick; Malan, Valerie; Huet, Frédéric; Molven, Anders; Dijoud, Frédérique; Munnich, Arnold; Faivre, Laurence; Amiel, Jeanne; Harley, Vincent; Houge, Gunnar; Morel, Yves; Lyonnet, Stanislas. 2011. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. Journal of Medical Genetics. 48: 825-830. doi: 10.1136/jmedgenet-2011-100255
  • Berland, Siren; Alme, Kine; Brendehaug, Atle; Houge, Gunnar; Hovland, Randi. 2011. PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. Molecular Syndromology. 1: 294-300. doi: 10.1159/000330111
  • Houge, Gunnar; Tøndel, Camilla; Kaarbøe, Øyvind; Hirth, Asle; Bostad, Leif; Svarstad, Einar. 2011. Fabry or not Fabry – a question of ascertainment. European Journal of Human Genetics. 19: 1111-1112. doi: 10.1038/ejhg.2011.87
  • Berland, Siren; Houge, Gunnar. 2010. Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C. Clinical Dysmorphology. 19: 222-224. doi: 10.1097/MCD.0b013e32833dc589
  • Blinkenberg, Ellen Økland; Sandberg, Sverre; Steen, Vidar Martin; Houge, Gunnar; Kristoffersen, Ann-Helen. 2010. Usefulness of factor V Leiden mutation testing in clinical practice. European Journal of Human Genetics. 18: 862-866. doi: 10.1038/ejhg.2010.33
  • Fiskerstrand, Torunn; Houge, Gunnar; Sund, Bjørn Ståle; Scheie, David; Leh, Sabine; Boman, Helge; Knappskog, Per Morten. 2010. Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. Journal of Molecular Diagnostics. 12: 125-131. doi: 10.2353/jmoldx.2010.090033
  • Guest, Julian F; Jenssen, Trond; Houge, Gunnar; Aaseboe, Willy; Tøndel, Camilla; Svarstad, Einar. 2010. Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. European Journal of Clinical Investigation. 40: 1104-1112. doi: 10.1111/j.1365-2362.2010.02363.x
  • Houge, Gunnar. 2010. Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression. Molecular Syndromology. 1: 46-57.
  • Rødningen, Olaug Kristin; Prescott, Trine; Hovland, Randi; Eiklid, Kristin Louise; Houge, Gunnar. 2010. Påvisning av kromosomavvik ved hjelp av DNA-matriser. Tidsskrift for Den norske legeforening. 130: 944-947.
  • Allerston, Charles K.; Vetti, Hildegunn Høberg; Houge, Gunnar; Phillips, Ian R.; Shephard, Elizabeth A. 2009. A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. Molecular Genetics and Metabolism. 98: 198-202. doi: 10.1016/j.ymgme.2009.06.002
  • Houge, Gunnar; Lybæk, Helle; Gulati, Shashi. 2009. Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction? BMC Medical Genetics. 10. 7 pages. doi: 10.1186/1471-2350-10-42
  • Kleefstra, Tjitske; van Zelst-Stams, Wendy A.; Nillesen, Willy M.; Cormier-Daire, Valérie; Houge, Gunnar; Foulds, Nicola; van Dooren, Marieke; Willemsen, Marjolein H.; Pfundt, Rolph; Turner, Anne; Wilson, Meredith; McGaughran, Julie; Rauch, Anita; Zenker, Martin; Adam, Margaret P.; Innes, Micheil; Davies, Christine; López, Antonio González-Meneses; Casalone, Rosario; Weber, Astrid; Brueton, Louise A.; Navarro, Alicia Delicado; Bralo, Maria Palomares; Venselaar, Hanka; Stegmann, Sander P.A.; Yntema, Helger G.; van Bokhoven, Hans; Brunner, Han G. 2009. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics. 46: 598-606. doi: 10.1136/jmg.2008.062950
  • Lybæk, Helle; Ørstavik, Karen Helene; Prescon, Trine; Hovland, Randi; Breilid, Harald; Stansberg, Christine; Steen, Vidar Martin; Houge, Gunnar. 2009. An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion. European Journal of Human Genetics. 17: 904-910. doi: 10.1038/ejhg.2008.261
  • Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der; Steine, Solrun; Njølstad, Pål Rasmus; Houge, Gunnar; Prescott, Trine E. 2009. Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening. 129: 2358-2361.
  • Lybæk, Helle; Meza-Zepeda, Leonardo A.; Kresse, Stine H.; Høysæter, Trude; Steen, Vidar Martin; Houge, Gunnar. 2008. Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development. European Journal of Human Genetics. 16: 1318-1328. doi: 10.1038/ejhg.2008.78
  • Tøndel, Camilla; Bostad, Leif; Lægreid, Liv Marie; Houge, Gunnar; Svarstad, Einar. 2008. Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clinical Therapeutics. 30: S42-S42. doi: 10.1016/S0149-2918(08)80036-7
  • Sivertsen, Åse; Lie, Rolv T.; Wilcox, Allen J.; Åbyholm, Frank E.; Vindenes, Hallvard; Haukanes, Bjørn Ivar; Houge, Gunnar. 2007. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. American Journal of Medical Genetics. 143A: 129-134. doi: 10.1002/ajmg.a.31445
  • Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter; Lazarou, Lazarous P; Rosser, Lyndon G; Prescott, Trine; Houge, Gunnar. 2007. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. American Journal of Medical Genetics. 143: 1510-1513.
  • Svarstad, Einar; Bostad, Leif; Kaarbøe, Øyvind; Houge, Gunnar; Tøndel, Camilla; Lyngdal, Per Tore; Iversen, Bjarne Magnus. 2005. Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. Clinical Nephrology. 63: 394-401.
Book sections
  • Markestad, Trond; Houge, Gunnar. 2009. Genetisk betingede sykdommer. Kap. 9, pages 94-104. In:
    • Markestad, Trond. 2009. Klinisk Pediatri. Fagbokforlaget. 416 pages. ISBN: 978-82-450-0745-9.

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