Vitenskapelig artikkel
-
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)
-
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)
-
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)
-
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)
-
Gunnar Douzgos Houge; Andreas Laner; Sebahattin Cirak
et al. (2021). Stepwise ABC system for classification of any type of genetic variant. (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)
-
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)
-
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)
-
Camilla Tøndel; Liv Marie Lægreid; Asle Hirth
et al. (2003). [Intravenous Enzyme Substitution Therapy in Children With Fabry's Disease]. (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)
-
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)
-
Martin Franke; Daniel M. Ibrahim; Guillaume Andrey
et al. (2016). Formation of new chromatin domains determines pathogenicity of genomic duplications. (ekstern lenke)
-
Shawn Yost; Bas De Wolf; Sandra Hanks
et al. (2017). Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. (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)
-
Stefan Johansson; Siren Berland; Gyri Aasland Gradek
et al. (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (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)
-
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)
-
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)
-
Josephine Prener Holtan; Knut Teigen; Ingvild Aukrust
et al. (2019). Dominant ARL3-related retinitis pigmentosa. (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)
-
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)
-
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)
-
Roya Bina; Dena Matalon; Brieana Fregeau
et al. (2020). De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. (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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
Gunnar Douzgos Houge; Mirjam Langeveld; Joao-Paulo Oliveira
(2024). GLA insufficiency should not be called Fabry disease. (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)
-
Audun Brendbekken; Gunnar Douzgos Houge
(2023). Sjeldne sykdommer, dyre medisiner og komplisert helseøkonomi. (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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
Siren Berland; Cecilie Rustad; Mariann Bentsen
et al. (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. (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)
-
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)
-
Megan L. Corder; Siren Berland; Jostein Andersen Førsvoll
et al. (2021). Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism. (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)
-
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)
-
Ellen Økland Blinkenberg; Sverre Sandberg; Vidar Martin Steen
et al. (2010). Usefulness of factor V Leiden mutation testing in clinical practice. (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)
-
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)
-
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)
-
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)
-
Siren Berland; Mia Sanby Appelbäck; Ove Bruland
et al. (2013). Evidence for anticipation in Beckwith-Wiedemann syndrome. (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)
-
Rita Horvath; Birgit Czermin; Sweena Gulati
et al. (2012). Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (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)
-
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)
-
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)
-
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)
-
Rannveig Skrunes; Camilla Tøndel; Sabine Maria Leh
et al. (2017). Long-term dose-dependent agalsidase effects on kidney histology in fabry disease. (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)
-
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)
-
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)
-
Camilla Tøndel; Leif Bostad; Kristin Kampevold Larsen
et al. (2013). Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. (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)
-
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)
-
A. L. van de Kar; Gunnar Houge; A. C. Shaw
et al. (2014). Keloids in Rubinstein-Taybi syndrome: a clinical study. (ekstern lenke)
-
Erika Souche; Sergi Beltran; Erwin Brosens
et al. (2022). Recommendations for whole genome sequencing in diagnostics for rare diseases. (ekstern lenke)
-
Øystein Solberg Eikrem; Rannveig Skrunes; Camilla Tøndel
et al. (2017). Pathomechanisms of renal Fabry disease. (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)
-
Hugo Abarca; Anne Elisabeth Christensen; Milana Trubnykova
et al. (2014). Ocular pterygium - digital keloid dysplasia. (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)
-
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)
-
Ralf A. Husain; Xinfu Jiao; J Christopher Hennings
et al. (2024). Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. (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)
-
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)
-
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)
Fagbok
Leserbrev
Lederartikkel
Rettelse i tidsskrift
-
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)
-
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)
-
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)
Konferanseabstrakt
Vitenskapelig bokkapittel
Vitenskapelig litteraturgjennomgang
Lærebok
Fremhevet artikkel i media
Medieintervju
Se en full oversikt over publikasjoner i Cristin