Vitenskapelig artikkel

• Sofia Douzgou Houge; Cecilie Bredrup; Ragnhild Wivestad Jansson et al. (2026). Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction. (ekstern lenke)
• Lama AlAbdi; Abdullah Sezer; Fatema Alzahrani et al. (2026). Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility. (ekstern lenke)
• Julia Volpi; Xiaonan Zhao; Nichole Owen et al. (2025). Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions. (ekstern lenke)
• Audun Brendbekken; Ole Frithjof Norheim; Frode Lindemark et al. (2025). Negotiating clinical practice guidelines: Doctors’ experiences with implementing and rationing high-cost cystic fibrosis treatment. (ekstern lenke)
• Ida W. Sørensen; Ragnhild Glad; Gunnar Houge et al. (2021). Mer treffsikker fosterdiagnostikk. (ekstern lenke)
• Aida Telegrafi; Bryn D Webb; Sarah M Robbins et al. (2017). Identification of STAC3 variants in non-Native American families with overlapping features of Carey?Fineman?Ziter syndrome and Moebius syndrome. (ekstern lenke)
• Hitisha P. Zaveri; Tyler F. Beck; Andrés Hernández-Garcia et al. (2014). Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. (ekstern lenke)
• Maximilian Hirschenberger; Alice Lepelley; Ulrich Rupp et al. (2023). ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling. (ekstern lenke)
• Ileana Cristea; Hugo Abarca; Anne Elisabeth Christensen et al. (2023). A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia. (ekstern lenke)
• Helle Lybæk; Leonardo A. Meza-Zepeda; Stine H. Kresse 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. (ekstern lenke)
• Felix Marbach; Cecilie Rustad; Angelika Rieß et al. (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. (ekstern lenke)
• Sabine Rudnik-Schöneborn; Jan Senderek; Joanna C. Jen et al. (2013). Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations. (ekstern lenke)
• Audun Brendbekken; Gunnar Douzgos Houge (2023). Sjeldne sykdommer, dyre medisiner og komplisert helseøkonomi. (ekstern lenke)
• Gunnar Houge; Inger Hellerdal Rasmussen; Randi Hovland (2012). Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. (ekstern lenke)
• Rebecca L. Poole; Emilia K. Bijlsma; Gunnar Douzgos Houge et al. (2023). The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients. (ekstern lenke)
• Ingvild Aukrust; Ragnhild Wivestad Jansson; Cecilie Bredrup 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. (ekstern lenke)
• Reza Asadollahi; Beatrice Oneda; Frenny Sheth et al. (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. (ekstern lenke)
• Camilla Tøndel; Leif Bostad; Kristin Kampevold Larsen et al. (2013). Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. (ekstern lenke)
• Gunnar Houge; Dorien Haesen; Lisenka E.L.M. Vissers et al. (2015). B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (ekstern lenke)
• Denise Horn; Trine Prescon; Gunnar Houge et al. (2015). A novel oculo-skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. (ekstern lenke)
• Sabine Benko; Christopher P. Gordon; Delphine Mallet et al. (2011). Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. (ekstern lenke)
• Tomasz Stokowy; Mateusz Garbulowski; Torunn Fiskerstrand et al. (2016). RareVariantVis: New tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data. (ekstern lenke)
• Hildegunn Høberg Vetti; Elisabet Ognedal Berge; Adrien Buisson et al. (2020). The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?. (ekstern lenke)
• Siren Berland; Bjørn Ivar Haukanes; Petur Benedikt Juliusson 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.. (ekstern lenke)
• Parisa Hemati; Anya Revah-Politi; Haim Bassan et al. (2018). Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. (ekstern lenke)
• Ragnhild Drage Berentsen; Bjørn Ivar Haukanes; Petur Benedikt Juliusson et al. (2018). A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. (ekstern lenke)
• Hanne Sørmo Sorte; Lars Mørkrid; Olaug Kristin Rødningen et al. (2012). Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. (ekstern lenke)
• A. L. van de Kar; Gunnar Houge; A. C. Shaw et al. (2014). Keloids in Rubinstein-Taybi syndrome: a clinical study. (ekstern lenke)
• Carolina Courage; Gunnar Houge; Sabina Gallati et al. (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. (ekstern lenke)
• Erika Souche; Sergi Beltran; Erwin Brosens et al. (2022). Recommendations for whole genome sequencing in diagnostics for rare diseases. (ekstern lenke)
• Silvia Martin-Almedina; Kazim Ogmen; Ege Sackey et al. (2021). Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. (ekstern lenke)
• Siren Berland; Mia Sanby Appelbäck; Ove Bruland et al. (2013). Evidence for anticipation in Beckwith-Wiedemann syndrome. (ekstern lenke)
• Josephine Prener Holtan; Knut Teigen; Ingvild Aukrust et al. (2019). Dominant ARL3-related retinitis pigmentosa. (ekstern lenke)
• Gunnar Douzgos Houge; Andreas Laner; Sebahattin Cirak et al. (2021). Stepwise ABC system for classification of any type of genetic variant. (ekstern lenke)
• Charles K. Allerston; Hildegunn Høberg Vetti; Gunnar Houge et al. (2009). A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. (ekstern lenke)
• Anders Molven; Oddmund Søvik; Charlotte von der Lippe et al. (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. (ekstern lenke)
• Julian F Guest; Trond Jenssen; Gunnar Houge et al. (2010). Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. (ekstern lenke)
• Øystein Solberg Eikrem; Rannveig Skrunes; Camilla Tøndel et al. (2017). Pathomechanisms of renal Fabry disease. (ekstern lenke)
• M.H. Willemsen; A.T. Vulto-van Silfhout; W.M. Nillesen et al. (2012). Update on Kleefstra Syndrome. (ekstern lenke)
• Dagmar Wieczorek; Nina Bögershausen; Filippo Beleggia 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. (ekstern lenke)
• Tinatin Tkemaladze; Eirik Bratland; Kakha Bregvadze et al. (2023). MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly. (ekstern lenke)
• Cecilie Bredrup; Tomasz Stokowy; Julie McGaughran et al. (2018). A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.. (ekstern lenke)
• Turid Apelland; Einar Gude; Erik Heyerdahl Strøm et al. (2014). Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease. (ekstern lenke)
• Gabor E. Linthorst; Allessandro Burlina; Franco Cecchi et al. (2012). Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage. (ekstern lenke)
• Andrea K. Vaags; Sarah Bowdin; Mary-Lou Smith et al. (2014). Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. (ekstern lenke)
• Hugo Abarca; Anne Elisabeth Christensen; Milana Trubnykova et al. (2014). Ocular pterygium - digital keloid dysplasia. (ekstern lenke)
• Siren Berland; Trine Toft-Bertelsen; Ingvild Aukrust 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. (ekstern lenke)
• Ideke J.C. Lamers; Margot R.F. Reijnders; Hanka Venselaar et al. (2017). Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. (ekstern lenke)
• Siren Berland; Jørgen Jareld; Nicholas Hickson et al. (2021). The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant. (ekstern lenke)
• Scott Bell; Justine Rousseau; Huashan Peng et al. (2019). Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons. (ekstern lenke)
• Linda van der Tol; David Cassiman; Gunnar Houge 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. (ekstern lenke)
• Rita Horvath; Birgit Czermin; Sweena Gulati et al. (2012). Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (ekstern lenke)
• Gunnar Douzgos Houge; Eirik Bratland; Ingvild Aukrust et al. (2024). Comparison of the ABC and ACMG systems for variant classification. (ekstern lenke)
• Nina Mc Tiernan; Svein Isungset Støve; Ingvild Aukrust 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. (ekstern lenke)
• Laura Castilla-Vallmanya; Kaja Kristine Selmer; Clémantine Dimartino et al. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. (ekstern lenke)
• Stéphanie Moortgat; Siren Berland; Ingvild Aukrust et al. (2017). HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (ekstern lenke)
• Francesca Forzano; Olga Antonova; Angus Clarke et al. (2021). The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. (ekstern lenke)
• Helle Lybæk; Karen Helene Ørstavik; Trine Prescon 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. (ekstern lenke)
• Beverley H. Anderson; Paul R. Kasher; Josephine Mayer et al. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. (ekstern lenke)
• Karen Helene Ørstavik; Gun Peggy Strømstad Knudsen; Hilde Nordgarden 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. (ekstern lenke)
• Roya Bina; Dena Matalon; Brieana Fregeau et al. (2020). De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. (ekstern lenke)
• Suzanna G.M. Frints; Friederike Hennig; Roberto Colombo et al. (2019). Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. (ekstern lenke)
• Siren Berland; Cecilie Rustad; Mariann Bentsen et al. (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. (ekstern lenke)
• Einar Svarstad; Leif Bostad; Øyvind Kaarbøe et al. (2005). Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. (ekstern lenke)
• Markus Storbeck; Beate Horsberg Eriksen; Andreas Unger et al. (2017). Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. (ekstern lenke)
• Charlotte A. Sherlaw-Sturrock; Tracey Willis; Nigel Kiely 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. (ekstern lenke)
• Camilla Tøndel; Liv Marie Lægreid; Asle Hirth et al. (2003). [Intravenous Enzyme Substitution Therapy in Children With Fabry's Disease]. (ekstern lenke)
• Linda Zi Yan Xu; Hanne Jensen; Jennifer Johnston et al. (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. (ekstern lenke)
• Richarda M. de Voer; Ad Geurts van Kessel; Robbert D.A. Weren et al. (2013). Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer. (ekstern lenke)
• Kohei Hamanaka; Yuji Sugawara; Takeyoshi Shimoji et al. (2018). De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. (ekstern lenke)
• Cecilie Bredrup; Ileana Cristea; Leen Abu Safieh et al. (2021). Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. (ekstern lenke)
• Torunn Fiskerstrand; Gunnar Houge; Bjørn Ståle Sund et al. (2010). Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. (ekstern lenke)
• Tjitske Kleefstra; Wendy A. van Zelst-Stams; Willy M. Nillesen 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. (ekstern lenke)
• Joe Rainger; Davut Pehlivan; Stefan Johansson et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (ekstern lenke)
• Siren Berland; Gunnar Houge (2010). Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C. (ekstern lenke)
• Dinka Smajlagic; Ksenia Lavrichenko; Siren Berland et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (ekstern lenke)
• Siren Berland; Kine Alme; Atle Brendehaug et al. (2011). PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. (ekstern lenke)
• Ralf A. Husain; Xinfu Jiao; J Christopher Hennings et al. (2024). Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. (ekstern lenke)
• Helle Lybæk; Diederik de Bruijn; Anke H.A. den Engelsman-van Dijk et al. (2013). RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. (ekstern lenke)
• Siddharta Banka; Ratna Veeramachaneni; William Reardon et al. (2012). How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. (ekstern lenke)
• Lisa Lenaerts; Sara Reynhout; Iris Verbinnen et al. (2021). The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. (ekstern lenke)
• Martin Franke; Daniel M. Ibrahim; Guillaume Andrey et al. (2016). Formation of new chromatin domains determines pathogenicity of genomic duplications. (ekstern lenke)
• Megan L. Corder; Siren Berland; Jostein Andersen Førsvoll et al. (2021). Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism. (ekstern lenke)
• Ilaria Mannucci; Nghi D. P. Dang; Hannes Huber et al. (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. (ekstern lenke)
• Julie S. Cohen; Siddharth C. Srivastava; Kelly D. Farwell Hagman et al. (2017). Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. (ekstern lenke)
• Shawn Yost; Bas De Wolf; Sandra Hanks et al. (2017). Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. (ekstern lenke)
• Åse Sivertsen; Rolv T. Lie; Allen J. Wilcox et al. (2007). Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. (ekstern lenke)
• Bertrand Coste; Gunnar Houge; Michael Murray et al. (2013). Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (ekstern lenke)
• Mark J. Hamilton; Richard C. Caswell; Natalie Canham et al. (2018). Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. (ekstern lenke)
• Kjersti Eline Stige; Ivar Otto Gjerde; Gunnar Douzgos Houge et al. (2018). Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.. (ekstern lenke)
• Gunnar Houge (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. (ekstern lenke)
• Susanne Schmidt; Gunnar Houge; Bente Hunn et al. (2016). A structured assessment of motor function and behavior in patients with Kleefstra syndrome. (ekstern lenke)
• Angela Peron; Felice D’Arco; Kimberly A. Aldinger et al. (2024). BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. (ekstern lenke)
• Rannveig Skrunes; Camilla Tøndel; Sabine Maria Leh et al. (2017). Long-term dose-dependent agalsidase effects on kidney histology in fabry disease. (ekstern lenke)
• Leonie A. Menke; Thatjana Gardeitchik; Peter Hammond et al. (2018). Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (ekstern lenke)
• Stefan Johansson; Siren Berland; Gyri Aasland Gradek et al. (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (ekstern lenke)
• Helle Lybæk; Michael Robson; Nicole de Leeuw et al. (2022). LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. (ekstern lenke)
• Gunnar Houge; Helle Lybæk; Shashi Gulati (2009). Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?. (ekstern lenke)
• Gunnar Douzgos Houge; Mirjam Langeveld; Joao-Paulo Oliveira (2024). GLA insufficiency should not be called Fabry disease. (ekstern lenke)
• Ellen Økland Blinkenberg; Sverre Sandberg; Vidar Martin Steen et al. (2010). Usefulness of factor V Leiden mutation testing in clinical practice. (ekstern lenke)
• Iris Verbinnen; Sofia Douzgou Houge; Tzung-Chien Hsieh et al. (2025). Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum. (ekstern lenke)

Vitenskapelig litteraturgjennomgang

• Gunnar Douzgos Houge; Sofia Douzgou Houge; Tzung Chien Hsieh et al. (2025). Houge-Janssens syndrome. (ekstern lenke)
• Iris Verbinnen; Pieter Vaneynde; Sara Reynhout et al. (2021). Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease. (ekstern lenke)

Rettelse i tidsskrift

• Silvia Martin-Almedina; Kazim Ogmen; Ege Sackey 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). (ekstern lenke)
• Francesca Forzano; Olga Antonova; Angus Clarke 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). (ekstern lenke)
• Francesca Forzano; Olga Antonova; Angus Clarke 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). (ekstern lenke)
• Francesca Forzano; Olga Antonova; Angus Clarke 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). (ekstern lenke)

Leserbrev

• Kjetil Tasken; Hege Elisabeth Giercksky Russnes; Eline Aas et al. (2022). A national precision cancer medicine implementation initiative for Norway. (ekstern lenke)
• Audun Brendbekken; Andrea Melberg; Gunnar Douzgos Houge (2025). Kostnadseffektivitet må avgjøre behandling. (ekstern lenke)
• Anne Kjørsvik Bertelsen; Camilla Tøndel; Jørgen Gitlesen Krohn et al. (2013). Small fibre neuropathy in Fabry disease. (ekstern lenke)
• Nicole de Leeuw; Gunnar Houge (2014). Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. (ekstern lenke)
• Espen Lien; Anne Karine Våtevik; Rune André Helland Østern et al. (2016). A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. (ekstern lenke)
• Gunnar Houge; Camilla Tøndel; Øyvind Kaarbøe et al. (2011). Fabry or not Fabry – a question of ascertainment. (ekstern lenke)
• Elise Pisan; Chiara De Luca; Francesco Brancati et al. (2024). The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. (ekstern lenke)
• Jacob Sampson; Gunnar Douzgos Houge; Siddharth Banka (2023). Locus conversions are rare in the LRFN5 locus. (ekstern lenke)
• Gunnar Houge (2015). Hvor går grensen mellom diagnostikk og forskning? :. (ekstern lenke)
• Francesca Forzano; Olga Antonova; Angus Clarke et al. (2022). Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’. (ekstern lenke)

Fagbok

• Ivar Mæhle; Jarle Eknes; Gunnar Houge (2012). Utviklingshemning - Årsaker og konsekvenser. (ekstern lenke)

Lederartikkel

• Gunnar Houge; Jerome Del Picchia (2017). The inner life and structure of ESHG. (ekstern lenke)
• Helena Kääriäinen; Gunnar Houge (2017). Secretary Generals on recent ESHG presidents (2003-2015). (ekstern lenke)

Fremhevet artikkel i media

• Olaug Kristin Rødningen; Trine Prescott; Randi Hovland et al. (2010). Påvisning av kromosomavvik ved hjelp av DNA-matriser. (ekstern lenke)

Medieintervju

• Anne Blomhoff; Cathrine Ebbing; Torbjørn Moe Eggebø et al. (2020). De foreslåtte endringene i bioteknologiloven er et fremskritt for kvinnehelsen. 15 representanter fra det fostermedisinske fagmiljø.. (ekstern lenke)

Vitenskapelig bokkapittel

• Trond Markestad; Gunnar Houge (2009). Genetisk betingede sykdommer. (ekstern lenke)

Konferanseabstrakt

• Camilla Tøndel; Leif Bostad; Liv Marie Lægreid et al. (2008). Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. (ekstern lenke)
• Richarda M. de Voer; Ad Geurts van Kessel; Han J.M. van Krieken et al. (2012). Constitutional Anomalies in Spindle Assembly Checkpoint Components: Risk Factors for Mosaic Aneuploidy and Cancer. (ekstern lenke)

Lærebok

• Gunnar Houge; Jarle Eknes; Ivar Reinholdt Mæhle (2018). Utviklingshemming. Årsaker og konsekvenser. 2.utgave. (ekstern lenke)

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