Gunnar Douzgos Houge
Position
Professor
Affiliation
Publications
Letter to the editor
- Pisan, Elise; De Luca, Chiara; Brancati, Francesco et al. (2024). The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. (external link)
- Sampson, Jacob; Houge, Gunnar Douzgos; Banka, Siddharth (2023). Locus conversions are rare in the LRFN5 locus. (external link)
- Forzano, Francesca; Antonova, Olga; Clarke, Angus et al. (2022). Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’. (external link)
- Lien, Espen; Våtevik, Anne Karine; Østern, Rune André Helland et al. (2016). A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. (external link)
- de Leeuw, Nicole; Houge, Gunnar (2014). Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. (external link)
Academic article
- Husain, Ralf A.; Jiao, Xinfu; Hennings, J Christopher et al. (2024). Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. (external link)
- Houge, Gunnar Douzgos; Bratland, Eirik; Aukrust, Ingvild et al. (2024). Comparison of the ABC and ACMG systems for variant classification. (external link)
- Brendbekken, Audun; Houge, Gunnar Douzgos (2023). Sjeldne sykdommer, dyre medisiner og komplisert helseøkonomi. (external link)
- Poole, Rebecca L.; Bijlsma, Emilia K.; Houge, Gunnar Douzgos et al. (2023). The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients. (external link)
- Cristea, Ileana; Abarca, Hugo; Christensen, Anne Elisabeth et al. (2023). A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia. (external link)
- Tkemaladze, Tinatin; Bratland, Eirik; Bregvadze, Kakha et al. (2023). MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly. (external link)
- Hirschenberger, Maximilian; Lepelley, Alice; Rupp, Ulrich et al. (2023). ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling. (external link)
- Souche, Erika; Beltran, Sergi; Brosens, Erwin et al. (2022). Recommendations for whole genome sequencing in diagnostics for rare diseases. (external link)
- Sherlaw-Sturrock, Charlotte A.; Willis, Tracey; Kiely, Nigel et al. (2022). PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group. (external link)
- Lybæk, Helle; Robson, Michael; de Leeuw, Nicole et al. (2022). LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. (external link)
- Mannucci, Ilaria; Dang, Nghi D. P.; Huber, Hannes et al. (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. (external link)
- Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu et al. (2021). Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. (external link)
- Corder, Megan L.; Berland, Siren; Førsvoll, Jostein Andersen et al. (2021). Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism. (external link)
- Berland, Siren; Rustad, Cecilie; Bentsen, Mariann et al. (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. (external link)
- Martin-Almedina, Silvia; Ogmen, Kazim; Sackey, Ege et al. (2021). Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. (external link)
- Forzano, Francesca; Antonova, Olga; Clarke, Angus et al. (2021). The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. (external link)
- Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris et al. (2021). The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. (external link)
- Houge, Gunnar Douzgos; Laner, Andreas; Cirak, Sebahattin et al. (2021). Stepwise ABC system for classification of any type of genetic variant. (external link)
- Berland, Siren; Jareld, Jørgen; Hickson, Nicholas et al. (2021). The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant. (external link)
- Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (external link)
- Castilla-Vallmanya, Laura; Selmer, Kaja Kristine; Dimartino, Clémantine et al. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. (external link)
- Vetti, Hildegunn Høberg; Berge, Elisabet Ognedal; Buisson, Adrien et al. (2020). The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?. (external link)
- Berland, Siren; Haukanes, Bjørn Ivar; Juliusson, Petur Benedikt et al. (2020). Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.. (external link)
- Marbach, Felix; Rustad, Cecilie; Rieß, Angelika et al. (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. (external link)
- Frints, Suzanna G.M.; Hennig, Friederike; Colombo, Roberto et al. (2019). Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. (external link)
- Bell, Scott; Rousseau, Justine; Peng, Huashan et al. (2019). Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons. (external link)
- Holtan, Josephine Prener; Teigen, Knut; Aukrust, Ingvild et al. (2019). Dominant ARL3-related retinitis pigmentosa. (external link)
- Berland, Siren; Toft-Bertelsen, Trine; Aukrust, Ingvild et al. (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. (external link)
- Berentsen, Ragnhild Drage; Haukanes, Bjørn Ivar; Juliusson, Petur Benedikt et al. (2018). A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. (external link)
- Hemati, Parisa; Revah-Politi, Anya; Bassan, Haim et al. (2018). Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. (external link)
- Hamilton, Mark J.; Caswell, Richard C.; Canham, Natalie et al. (2018). Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. (external link)
- Menke, Leonie A.; Gardeitchik, Thatjana; Hammond, Peter et al. (2018). Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (external link)
- Mc Tiernan, Nina; Støve, Svein Isungset; Aukrust, Ingvild et al. (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. (external link)
- Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer et al. (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. (external link)
- Hamanaka, Kohei; Sugawara, Yuji; Shimoji, Takeyoshi et al. (2018). De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. (external link)
- Bredrup, Cecilie; Stokowy, Tomasz; McGaughran, Julie et al. (2018). A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.. (external link)
- Stige, Kjersti Eline; Gjerde, Ivar Otto; Houge, Gunnar Douzgos et al. (2018). Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. . (external link)
- Eikrem, Øystein Solberg; Skrunes, Rannveig; Tøndel, Camilla et al. (2017). Pathomechanisms of renal Fabry disease. (external link)
- Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild et al. (2017). HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (external link)
- Cohen, Julie S.; Srivastava, Siddharth C.; Farwell Hagman, Kelly D. et al. (2017). Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. (external link)
- Lamers, Ideke J.C.; Reijnders, Margot R.F.; Venselaar, Hanka et al. (2017). Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. (external link)
- Yost, Shawn; De Wolf, Bas; Hanks, Sandra et al. (2017). Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. (external link)
- Storbeck, Markus; Eriksen, Beate Horsberg; Unger, Andreas et al. (2017). Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. (external link)
- Telegrafi, Aida; Webb, Bryn D; Robbins, Sarah M et al. (2017). Identification of STAC3 variants in non-Native American families with overlapping features of Carey?Fineman?Ziter syndrome and Moebius syndrome. (external link)
- Skrunes, Rannveig; Tøndel, Camilla; Leh, Sabine Maria et al. (2017). Long-term dose-dependent agalsidase effects on kidney histology in fabry disease. (external link)
- Stokowy, Tomasz; Garbulowski, Mateusz; Fiskerstrand, Torunn et al. (2016). RareVariantVis: New tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data. (external link)
- Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie et al. (2016). The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. (external link)
- Schmidt, Susanne; Houge, Gunnar; Hunn, Bente et al. (2016). A structured assessment of motor function and behavior in patients with Kleefstra syndrome. (external link)
- Franke, Martin; Ibrahim, Daniel M.; Andrey, Guillaume et al. (2016). Formation of new chromatin domains determines pathogenicity of genomic duplications. (external link)
- Horn, Denise; Prescon, Trine; Houge, Gunnar et al. (2015). A novel oculo-skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. (external link)
- Houge, Gunnar; Haesen, Dorien; Vissers, Lisenka E.L.M. et al. (2015). B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (external link)
- Zaveri, Hitisha P.; Beck, Tyler F.; Hernández-Garcia, Andrés et al. (2014). Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. (external link)
- Rainger, Joe; Pehlivan, Davut; Johansson, Stefan et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (external link)
- Tol, Linda van der; Cassiman, David; Houge, Gunnar et al. (2014). Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. (external link)
- Apelland, Turid; Gude, Einar; Strøm, Erik Heyerdahl et al. (2014). Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease. (external link)
- Abarca, Hugo; Christensen, Anne Elisabeth; Trubnykova, Milana et al. (2014). Ocular pterygium - digital keloid dysplasia. (external link)
- Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland et al. (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (external link)
- Vaags, Andrea K.; Bowdin, Sarah; Smith, Mary-Lou et al. (2014). Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. (external link)
- van de Kar, A. L.; Houge, Gunnar; Shaw, A. C. et al. (2014). Keloids in Rubinstein-Taybi syndrome: a clinical study. (external link)
- Asadollahi, Reza; Oneda, Beatrice; Sheth, Frenny et al. (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. (external link)
- de Voer, Richarda M.; van Kessel, Ad Geurts; Weren, Robbert D.A. et al. (2013). Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer. (external link)
- Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove et al. (2013). Evidence for anticipation in Beckwith-Wiedemann syndrome. (external link)
- Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo et al. (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. (external link)
- Lybæk, Helle; de Bruijn, Diederik; den Engelsman-van Dijk, Anke H.A. et al. (2013). RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. (external link)
- Coste, Bertrand; Houge, Gunnar; Murray, Michael et al. (2013). Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (external link)
- Rudnik-Schöneborn, Sabine; Senderek, Jan; Jen, Joanna C. et al. (2013). Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations. (external link)
- Tøndel, Camilla; Bostad, Leif; Larsen, Kristin Kampevold et al. (2013). Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. (external link)
- Horvath, Rita; Czermin, Birgit; Gulati, Sweena et al. (2012). Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (external link)
- Anderson, Beverley H.; Kasher, Paul R.; Mayer, Josephine et al. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. (external link)
- Sorte, Hanne Sørmo; Mørkrid, Lars; Rødningen, Olaug Kristin et al. (2012). Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. (external link)
- Linthorst, Gabor E.; Burlina, Allessandro; Cecchi, Franco et al. (2012). Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage. (external link)
- Banka, Siddharta; Veeramachaneni, Ratna; Reardon, William et al. (2012). How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. (external link)
- Willemsen, M.H.; Vulto-van Silfhout, A.T.; Nillesen, W.M. et al. (2012). Update on Kleefstra Syndrome. (external link)
- Houge, Gunnar; Rasmussen, Inger Hellerdal; Hovland, Randi (2012). Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. (external link)
- Benko, Sabine; Gordon, Christopher P.; Mallet, Delphine et al. (2011). Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. (external link)
- Berland, Siren; Alme, Kine; Brendehaug, Atle et al. (2011). PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. (external link)
- Blinkenberg, Ellen Økland; Sandberg, Sverre; Steen, Vidar Martin et al. (2010). Usefulness of factor V Leiden mutation testing in clinical practice. (external link)
- 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. (external link)
- 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. (external link)
- Fiskerstrand, Torunn; Houge, Gunnar; Sund, Bjørn Ståle et al. (2010). Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. (external link)
- Guest, Julian F; Jenssen, Trond; Houge, Gunnar et al. (2010). Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. (external link)
- Kleefstra, Tjitske; van Zelst-Stams, Wendy A.; Nillesen, Willy M. et al. (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. (external link)
- Allerston, Charles K.; Vetti, Hildegunn Høberg; Houge, Gunnar et al. (2009). A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. (external link)
- Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der et al. (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. (external link)
- Lybæk, Helle; Ørstavik, Karen Helene; Prescon, Trine et al. (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. (external link)
- 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?. (external link)
- Lybæk, Helle; Meza-Zepeda, Leonardo A.; Kresse, Stine H. et al. (2008). Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development. (external link)
- Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde et al. (2007). Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. (external link)
- Sivertsen, Åse; Lie, Rolv T.; Wilcox, Allen J. et al. (2007). Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. (external link)
- Svarstad, Einar; Bostad, Leif; Kaarbøe, Øyvind et al. (2005). Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. (external link)
- Tøndel, Camilla; Lægreid, Liv Marie; Hirth, Asle et al. (2003). [Intravenous Enzyme Substitution Therapy in Children With Fabry's Disease] . (external link)
Errata
- Forzano, Francesca; Antonova, Olga; Clarke, Angus et al. (2022). Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ (European Journal of Human Genetics, (2022), 10.1038/s41431-022-01241-4). (external link)
- Forzano, Francesca; Antonova, Olga; Clarke, Angus et al. (2022). Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2022), 30, 5, (493-495), 10.1038/s41431-021-01000-x). (external link)
- Forzano, Francesca; Antonova, Olga; Clarke, Angus et al. (2022). Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2021), 10.1038/s41431-021-01000-x). (external link)
- Martin-Almedina, Silvia; Ogmen, Kazim; Sackey, Ege et al. (2021). Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes (Genetics in Medicine, (2021), 23, 7, (1315-1324), 10.1038/s41436-021-01136-7). (external link)
Academic literature review
Short communication
- Sørensen, Ida W.; Glad, Ragnhild; Houge, Gunnar et al. (2021). Mer treffsikker fosterdiagnostikk. (external link)
- Bina, Roya; Matalon, Dena; Fregeau, Brieana et al. (2020). De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. (external link)
- Courage, Carolina; Houge, Gunnar; Gallati, Sabina et al. (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. (external link)
Editorial
Reader opinion piece
- Houge, Gunnar (2015). Hvor går grensen mellom diagnostikk og forskning? :. (external link)
- Bertelsen, Anne Kjørsvik; Tøndel, Camilla; Krohn, Jørgen Gitlesen et al. (2013). Small fibre neuropathy in Fabry disease. (external link)
- Houge, Gunnar; Tøndel, Camilla; Kaarbøe, Øyvind et al. (2011). Fabry or not Fabry – a question of ascertainment. (external link)
Non-fiction book
Abstract
- de Voer, Richarda M.; van Kessel, Ad Geurts; van Krieken, Han J.M. et al. (2012). Constitutional Anomalies in Spindle Assembly Checkpoint Components: Risk Factors for Mosaic Aneuploidy and Cancer. (external link)
- Tøndel, Camilla; Bostad, Leif; Lægreid, Liv Marie et al. (2008). Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. (external link)