- (2018). Utviklingshemming. Årsaker og konsekvenser. 2.utgave . Universitetsforlaget.
- (2022). LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research. 421-433.
- (2021). Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism. American Journal of Medical Genetics. Part A. 1-10.
- (2021). The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. European Journal of Human Genetics. 1-3.
- (2021). The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genetics in Medicine. 352-362.
- (2021). The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant. Cold Spring Harbor Molecular Case Studies. 1-9.
- (2021). Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. Human Molecular Genetics. 72-77.
- (2021). Stepwise ABC system for classification of any type of genetic variant. European Journal of Human Genetics.
- (2021). Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. Genetics in Medicine. 1315-1324.
- (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine. 1-19.
- (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. Cold Spring Harbor Molecular Case Studies. 14 pages.
- (2020). The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance? European Journal of Human Genetics. 1078-1086.
- (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. European Journal of Human Genetics. 205-215.
- (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine. 1215-1226.
- (2020). Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay. Journal of Medical Genetics. 1-10.
- (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. 749-757.
- (2019). Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons. American Journal of Human Genetics. 815-834.
- (2019). Dominant ARL3-related retinitis pigmentosa. Ophthalmic Genetics. 124-128.
- (2019). Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation. 2270-2285.
- (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. 2259-2275.
- (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. American Journal of Human Genetics. 976-983.
- (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. 1-9.
- (2018). Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. Journal of Medical Genetics. 28-38.
- (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. 862-876.
- (2018). De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. European Journal of Human Genetics. 378-383.
- (2018). Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. . Clinical Case Reports.
- (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.
- (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. Cold Spring Harbor Molecular Case Studies.
- (2018). A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. Molecular Syndromology. 1-7.
- (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. 824-832.
- (2017). Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. European Journal of Human Genetics. 1040-1048.
- (2017). Pathomechanisms of renal Fabry disease. Cell and Tissue Research. 53-62.
- (2017). Long-term dose-dependent agalsidase effects on kidney histology in fabry disease. American Society of Nephrology. Clinical Journal. 1470-1479.
- (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. 2763-2771.
- (2017). HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. 64-74.
- (2017). Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clinical Genetics. 697-707.
- (2017). Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nature Genetics. 1148-1151.
- (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. 240-246.
- (2016). RareVariantVis: New tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data. Bioinformatics. 3018-3020.
- (2016). Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 265-269.
- (2016). A structured assessment of motor function and behavior in patients with Kleefstra syndrome. European Journal of Medical Genetics. 240-248.
- (2015). B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. Journal of Clinical Investigation. 3051-3062.
- (2015). A novel oculo-skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. European Journal of Medical Genetics. 387-391.
- (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. 83-90.
- (2014). Ocular pterygium - digital keloid dysplasia. American Journal of Medical Genetics. Part A. 2901-2907.
- (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 915-923.
- (2014). Keloids in Rubinstein-Taybi syndrome: a clinical study. British Journal of Dermatology. 615-621.
- (2014). Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLOS ONE. 10 pages.
- (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. American Journal of Medical Genetics. Part A. 1622-1626.
- (2014). Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease. Heart. 1793-1798.
- (2014). Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology. 758-764.
- (2013). RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. Epigenetics. 416-427.
- (2013). Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations. Neurology. 438-446.
- (2013). Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer. Gastroenterology. 544-547.
- (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. 4667-4672.
- (2013). Evidence for anticipation in Beckwith-Wiedemann syndrome. European Journal of Human Genetics. 1344-1348.
- (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics. 1100-1104.
- (2013). Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. Journal of the American Society of Nephrology. 137-148.
- (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. 5121-5135.
- (2012). Update on Kleefstra Syndrome. Molecular Syndromology. 202-212.
- (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. 196-202.
- (2012). Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage. JIMD Reports.
- (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics. 338-U1604.
- (2012). Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. Molecular Syndromology. 60-63.
- (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. 381-388.
- (2012). Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Journal of Neurology, Neurosurgery and Psychiatry. 174-178.
- (2011). PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. Molecular Syndromology. 294-300.
- (2011). Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. Journal of Medical Genetics. 825-830.
- (2010). Usefulness of factor V Leiden mutation testing in clinical practice. European Journal of Human Genetics. 862-866.
- (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. 46-57.
- (2010). Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. European Journal of Clinical Investigation. 1104-1112.
- (2010). Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C. Clinical Dysmorphology. 222-224.
- (2010). Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. Journal of Molecular Diagnostics. 125-131.
- (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening. 2358-2361.
- (2009). Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction? BMC Medical Genetics. 7 pages.
- (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. 598-606.
- (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. 904-910.
- (2009). A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. Molecular Genetics and Metabolism. 198-202.
- (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. 1318-1328.
- (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. 1510-1513.
- (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. 129-134.
- (2005). Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. Clinical Nephrology. 394-401.
- (2003). [Intravenous Enzyme Substitution Therapy in Children With Fabry's Disease] . Tidsskrift for Den norske legeforening.
- (2017). The inner life and structure of ESHG. European Journal of Human Genetics. S16-S19.
- (2017). Secretary Generals on recent ESHG presidents (2003-2015). European Journal of Human Genetics. S20-S22.
Reader opinion piece
- (2015). Hvor går grensen mellom diagnostikk og forskning? :. Tidsskrift for Den norske legeforening. 1632.
- (2013). Small fibre neuropathy in Fabry disease. Journal of Neurology. 917-919.
- (2011). Fabry or not Fabry – a question of ascertainment. European Journal of Human Genetics. 1111-1112.
- (2021). Mer treffsikker fosterdiagnostikk. Tidsskrift for Den norske legeforening. 1-5.
- (2020). De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. Journal of Medical Genetics. 1-5.
- (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. 520-523.
- (2012). Utviklingshemning - Årsaker og konsekvenser. Universitetsforlaget.
- (2010). Påvisning av kromosomavvik ved hjelp av DNA-matriser. Tidsskrift for Den norske legeforening. 944-947.
Letter to the editor
- (2016). A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. Annals of Neurology. 311-312.
- (2014). Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. American Journal of Human Genetics. 153-154.
- (2020). De foreslåtte endringene i bioteknologiloven er et fremskritt for kvinnehelsen. 15 representanter fra det fostermedisinske fagmiljø. .
Academic chapter/article/Conference paper
- (2009). Genetisk betingede sykdommer. 11 pages.
- (2012). Constitutional Anomalies in Spindle Assembly Checkpoint Components: Risk Factors for Mosaic Aneuploidy and Cancer. Cellular Oncology. S38-S39.
- (2008). Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clinical Therapeutics. S42-S42.
- (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). European Journal of Human Genetics.
- (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). Genetics in Medicine. 1376-1377.
Academic literature review
- (2021). Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease. Biochemical Society Transactions. 1567-1588.