Eirik Frengen

• Misceo, Doriana; Strømme, Petter; Bitarafan, fatemeh; Chawla, Maninder Singh; Sheng, Ying & Bach de Courtade, Sandra Monica [Vis alle 8 forfattere av denne artikkelen] (2024). Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes. ISSN 2073-4425. 15(4). doi: 10.3390/genes15040500.
• Misceo, Doriana; Senaratne, Lokuliyanage Dona Samudita; Mero, Inger-Lise; Sundaram, Arvind; Bjørnstad, Pål Marius & Szczałuba, Krzysztof [Vis alle 12 forfattere av denne artikkelen] (2023). Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome. Genes. ISSN 2073-4425. 14(11), s. 1–11. doi: 10.3390/genes14111985. Fulltekst i vitenarkiv
• Misceo, Doriana; Lirussi, Lisa; Strømme, Petter; Sumathipala, Dulika Sanjeewani; Guerin, Andrea & Wolf, Nicole I [Vis alle 14 forfattere av denne artikkelen] (2023). A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis. Brain. ISSN 0006-8950. 146(8), s. 3513–3527. doi: 10.1093/brain/awad086. Fulltekst i vitenarkiv
• Yaddehi Gamage, Thilini Hansamali Gamage; Grabmayr, Herwig; Horvath, Ferdinand; Fahrner, Marc; Misceo, Doriana & Louch, William Edward [Vis alle 21 forfattere av denne artikkelen] (2023). A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation. Science Signaling. ISSN 1945-0877. 16(771). doi: 10.1126/scisignal.add0509. Fulltekst i vitenarkiv
• Saida, Ken; Maroofian, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T. & Marafi, Dana [Vis alle 87 forfattere av denne artikkelen] (2022). Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine. ISSN 1098-3600. 25(1), s. 90–102. doi: 10.1016/j.gim.2022.09.010.
• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Fattahi, Zohreh; Lüders, Torben; Sheng, Ying & Kahrizi, Kimia [Vis alle 20 forfattere av denne artikkelen] (2022). ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain. ISSN 0006-8950. 145(7), s. 2602–2616. doi: 10.1093/brain/awac034. Fulltekst i vitenarkiv
• Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley & Barat-Houari, Mouna [Vis alle 34 forfattere av denne artikkelen] (2022). DNA methylation episignature in Gabriele-de Vries syndrome. Genetics in Medicine. ISSN 1098-3600. 24(4), s. 905–914. doi: 10.1016/j.gim.2021.12.003.
• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Einarsen, Ingunn Holm; Bjørndalen, Hilde & Server, Andrés [Vis alle 10 forfattere av denne artikkelen] (2020). Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. BMC Medical Genetics. ISSN 1471-2350. 21:96, s. 1–6. doi: 10.1186/s12881-020-01024-y. Fulltekst i vitenarkiv
• Cogne, Benjamin; Latypova, Xénia; Senaratne, Lokuliyanage Dona Samudita; Martin, Ludovic; Koboldt, Daniel C. & Kellaris, Georgios [Vis alle 28 forfattere av denne artikkelen] (2020). Mutations in the Kinesin-2 motor KIF3B cause an Autosomal-Dominant Ciliopathy. American Journal of Human Genetics. ISSN 0002-9297. 106(6), s. 893–904. doi: 10.1016/j.ajhg.2020.04.005. Vis sammendrag

  Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity isdriven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exomesequencing, we identified heterozygousKIF3Bvariants in two unrelated families with hallmark ciliopathy phenotypes. In the first fam-ily, the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly; he harbors ade novoc.748G>C(p.Glu250Gln) variant affecting the kinesin motor domain encoded byKIF3B. The second family is a six-generation pedigree affectedpredominantly by retinitis pigmentosa. Affected individuals carry a heterozygous c.1568T>C (p.Leu523Pro)KIF3Bvariant segregatingin an autosomal-dominant pattern. We observed a significant increase in primary cilia lengthin vitroin the context of either of the twomutations while variant KIF3B proteins retained stability indistinguishable from wild type. Furthermore, we tested the effects ofKIF3Bmutant mRNA expression in the developing zebrafish retina. In the presence of either missense variant, rhodopsin was sequestered tothe photoreceptor rod inner segment layer with a concomitant increase in photoreceptor cilia length. Notably, impaired rhodopsin traf-ficking is also characteristic of recessiveKIF3Bmodels as exemplified by an early-onset, autosomal-recessive, progressive retinal degen-eration in Bengal cats; we identified a c.1000G>A (p.Ala334Thr)KIF3Bvariant by genome-wide association study and whole-genomesequencing. Together, our genetic, cell-based, andin vivomodeling data delineate an autosomal-dominant syndromic retinal ciliopathyin humans and suggest that multiple KIF3B pathomechanisms can impair kinesin-driven ciliary transport in the photoreceptor

• Sumathipala, Dulika Sanjeewani; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H. & Frengen, Eirik [Vis alle 7 forfattere av denne artikkelen] (2020). A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1. Clinical Dysmorphology. ISSN 0962-8827. 29(2), s. 107–110. doi: 10.1097/MCD.0000000000000314.
• Chen, Chun-An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N.; Robak, Laurie A. & Jongmans, Marjolijn C.J. [Vis alle 18 forfattere av denne artikkelen] (2020). The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Human Mutation. ISSN 1059-7794. 41(10), s. 1738–1744. doi: 10.1002/humu.24075. Fulltekst i vitenarkiv Vis sammendrag

  Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rareautosomal dominant disorder characterized by congenital heart disease, skeletalabnormalities, and failure to thrive. CHDSKM is caused by germline mutations inABL1. To date, three variants have been in association with CHDSKM. In this study,we describe three de novo missense variants, c.407C>T (p.Thr136Met), c.746C>T(p.Pro249Leu), and c.1573G>A (p.Val525Met), and one recurrent variant,c.1066G>A (p.Ala356Thr), in six patients, thereby expanding the phenotypic spec-trum of CHDSKM to include hearing impairment, lipodystrophylike features, renalhypoplasia, and distinct ocular abnormalities. Functional investigation of the three novel variants showed an increased ABL1 kinase activity. The cardiac findings in additional patients with p.Ala356Thr contribute to the accumulating evidence that patients carrying either one of the recurrent variants, p.Tyr245Cys and p.Ala356Thr, have a high incidence of cardiac abnormalities.The phenotypic expansion has implications for the clinical diagnosis of CHDSKM in patients with germline ABL1 variants.

• Slavotinek, Anne; Misceo, Doriana; Htun, Stephanie; Mathisen, Linda; Frengen, Eirik & Foreman, Michelle [Vis alle 23 forfattere av denne artikkelen] (2020). Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human Molecular Genetics. ISSN 0964-6906. 29(13), s. 2218–2239. doi: 10.1093/hmg/ddaa108. Fulltekst i vitenarkiv
• Epting, Daniel; Senaratne, Lokuliyanage Dona Samudita; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika Sanjeewani & Larsen, Selma Mujezinovic [Vis alle 30 forfattere av denne artikkelen] (2020). Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. . Human Mutation. ISSN 1059-7794. s. 1–16. doi: 10.1002/humu.24127. Fulltekst i vitenarkiv
• Yaddehi Gamage, Thilini Hansamali Gamage; Lengle, Emma; Gunnes, Gjermund; Pullisaar, Helen; Holmgren, Asbjørn & Reseland, Janne Elin [Vis alle 16 forfattere av denne artikkelen] (2019). STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone. Cell Calcium. ISSN 0143-4160. 85. doi: 10.1016/j.ceca.2019.102110.
• Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette & Holmgren, Asbjørn [Vis alle 17 forfattere av denne artikkelen] (2018). Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid. ISSN 1050-7256. 28(11), s. 1406–1415. doi: 10.1089/thy.2018.0595. Fulltekst i vitenarkiv
• Yaddehi Gamage, Thilini Hansamali Gamage; Gunnes, Gjermund; Lee, Robert Hugh; Louch, William Edward; Holmgren, Asbjørn & Bruton, Joseph D. [Vis alle 19 forfattere av denne artikkelen] (2018). STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. Cell Calcium. ISSN 0143-4160. 76, s. 87–100. doi: 10.1016/j.ceca.2018.10.001. Fulltekst i vitenarkiv Vis sammendrag

  STIM1 and ORAI1 regulate store-operated Ca2+ entry (SOCE) in most cell types, and mutations in these proteins have deleterious and diverse effects. We established a mouse line expressing the STIM1 R304 W gain-of-function mutation causing Stormorken syndrome to explore effects on organ and cell physiology. While STIM1 R304 W was lethal in the homozygous state, surviving mice presented with reduced growth, skeletal muscle degeneration, and reduced exercise endurance. Variable STIM1 expression levels between tissues directly impacted cellular SOCE capacity. In contrast to patients with Stormorken syndrome, STIM1 was downregulated in fibroblasts from Stim1R304W/R304W mice, which maintained SOCE despite constitutive protein activity. In studies using foetal liver chimeras, STIM1 protein was undetectable in homozygous megakaryocytes and platelets, resulting in impaired platelet activation and absent SOCE. These data indicate that downregulation of STIM1 R304 W effectively opposes the gain-of-function phenotype associated with this mutation, and highlight the importance of STIM1 in skeletal muscle development and integrity.

• Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza & Hollizeck, Sebastian [Vis alle 24 forfattere av denne artikkelen] (2018). Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics. ISSN 1061-4036. 50(3), s. 344–348. doi: 10.1038/s41588-018-0063-6. Fulltekst i vitenarkiv
• Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; Paracha, Sohail Aziz & Iqbal, Zafar [Vis alle 26 forfattere av denne artikkelen] (2017). Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genetics in Medicine. ISSN 1098-3600. 20(7), s. 778–784. doi: 10.1038/gim.2017.113. Fulltekst i vitenarkiv
• Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan & Hu, Chun [Vis alle 75 forfattere av denne artikkelen] (2017). GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics. ISSN 0022-2593. 54(7), s. 460–470. doi: 10.1136/jmedgenet-2016-104509. Fulltekst i vitenarkiv
• Gabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman & Douglas, Evelyn [Vis alle 51 forfattere av denne artikkelen] (2017). YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics. ISSN 0002-9297. 100(6), s. 907–925. doi: 10.1016/j.ajhg.2017.05.006. Fulltekst i vitenarkiv
• Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn & Stray-Pedersen, Asbjørg [Vis alle 10 forfattere av denne artikkelen] (2016). Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Genes. ISSN 2073-4425. 7(12). doi: 10.3390/genes7120108. Vis sammendrag

  Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

• Pedurupillay Jesuthasan, Christeen Ramane; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne & Stadheim, Barbro [Vis alle 12 forfattere av denne artikkelen] (2016). Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Neuromuscular Disorders. ISSN 0960-8966. 26(9), s. 570–575. doi: 10.1016/j.nmd.2016.06.457.
• Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah & Hentschel, Julia [Vis alle 58 forfattere av denne artikkelen] (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. ISSN 0028-3878. 86(23), s. 2171–2178. doi: 10.1212/WNL.0000000000002740.
• Pedurupillay Jesuthasan, Christeen Ramane; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik & Misceo, Doriana [Vis alle 7 forfattere av denne artikkelen] (2016). Segregation of incomplete achromatopsia and alopecia due to PDE6H and LPAR6 variants in a consanguineous family from Pakistan. Genes. ISSN 2073-4425. 7(8). doi: 10.3390/genes7080041. Vis sammendrag

  We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree Pakistani cousins. Whole exome sequencing of the elder brother and parents, followed by Sanger sequencing of all four family members, led to the identification of the variants responsible for the two phenotypes. One variant was a homozygous nonsense variant in the inhibitory subunit of the cone-specific cGMP phosphodiesterase gene, PDE6H:c.35C>G (p.Ser12*). PDE6H is expressed in the cones of the retina, which are involved in perception of color vision. This is the second report of a homozygous PDE6H:c.35C>G variant causing incomplete achromatopsia (OMIM 610024), thus strongly supporting the hypothesis that loss-of-function variants in PDE6H cause this visual deficiency phenotype. The second variant was a homozygous missense substitution in the lysophosphatidic acid receptor 6, LPAR6:c.188A>T (p.Asp63Val). LPAR6 acts as a G-protein-coupled receptor involved in hair growth. Biallelic loss-of-function variants in LPAR6 cause hypotrichosis type 8 (OMIM 278150), with or without woolly hair, a form of non-syndromic alopecia. Biallelic LPAR6:c.188A>T was previously described in five families from Pakistan.

• Barøy, Tuva; Pedurupillay Jesuthasan, Christeen Ramane; Bliksrud, Yngve Thomas; Rasmussen, Magnhild; Holmgren, Asbjørn & Vigeland, Magnus Dehli [Vis alle 13 forfattere av denne artikkelen] (2016). A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. European Journal of Medical Genetics. ISSN 1769-7212. 59(6-7), s. 342–346. doi: 10.1016/j.ejmg.2016.05.005.
• Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd & Frengen, Eirik [Vis alle 7 forfattere av denne artikkelen] (2015). Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome. BMC Medical Genetics. ISSN 1471-2350. 16(113). doi: 10.1186/s12881-015-0260-4.
• Carlsen, Ellen Øen; Frengen, Eirik; Fannemel, Madeleine & Misceo, Doriana (2015). Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay. American Journal of Medical Genetics. ISSN 0148-7299. 167(8), s. 1890–1896. doi: 10.1002/ajmg.a.37079.
• Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana & Ferdinandusse, Sacha [Vis alle 18 forfattere av denne artikkelen] (2015). A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Human Molecular Genetics. ISSN 0964-6906. 24(20), s. 5845–5854. doi: 10.1093/hmg/ddv305.
• Christeen Ramane, Pedurupillay Jesuthasan; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli & Sheng, Ying [Vis alle 9 forfattere av denne artikkelen] (2015). Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. American Journal of Medical Genetics. Part A. ISSN 1552-4825. 167(3), s. 657–663. doi: 10.1002/ajmg.a.36944.
• Fannemel, Madeleine; Barøy, Tuva; Holmgren, Asbjørn; Rødningen, Olaug Kristin; Haugsand, Trine Marie & Hansen, Børre [Vis alle 8 forfattere av denne artikkelen] (2014). Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms. European Journal of Medical Genetics. ISSN 1769-7212. 57(9), s. 513–519. doi: 10.1016/j.ejmg.2014.05.008.
• Vetvik, Katja K; Sonerud, Tonje; Lindeberg, Mona Mari; Luders, Torben; Størkson, Ragnhild Helene & Jonsdottir, Kristin [Vis alle 9 forfattere av denne artikkelen] (2014). Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: Ex vivo and in vitro studies. Metabolism: Clinical and Experimental. ISSN 0026-0495. 63(5), s. 672–681. doi: 10.1016/j.metabol.2014.02.001.
• Belengeanu, Valerica; Gamage, Thilini Yaddehi; Farcas, Sorina; Stoian, Monica; Andreescu, Nicoleta & Belengeanu, Alina [Vis alle 8 forfattere av denne artikkelen] (2014). A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl. Gene. ISSN 0378-1119. 539(1), s. 168–172. doi: 10.1016/j.gene.2014.01.060.
• Misceo, Doriana; Holmgren, Asbjørn; Louch, William Edward; Holme, Pål Andre; Mizobuchi, Masahiro & Morales, Raul J. [Vis alle 14 forfattere av denne artikkelen] (2014). A Dominant STIM1 Mutation Causes Stormorken Syndrome. Human Mutation. ISSN 1059-7794. 35(5), s. 556–564. doi: 10.1002/humu.22544.
• Askautrud, Hanne Arenberg; Gjernes, Elisabet; Gunnes, Gjermund; Sletten, Marit; Ross, D. T. & Børresen-Dale, Anne-Lise [Vis alle 9 forfattere av denne artikkelen] (2014). Global Gene Expression Analysis Reveals a Link between NDRG1 and Vesicle Transport. PLOS ONE. ISSN 1932-6203. 9(1). doi: 10.1371/journal.pone.0087268. Fulltekst i vitenarkiv
• Pedurupillay Jesuthasan, Christeen Ramane; Misceo, Doriana; Gamage, Thilini Yaddehi; Dissanayake, Vajira H.W & Frengen, Eirik (2014). Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay. Gene. ISSN 0378-1119. 533(1), s. 403–410. doi: 10.1016/j.gene.2013.09.090.
• Wedding, Iselin Marie; Koht, Jeanette ; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine & Holmgren, Asbjørn [Vis alle 10 forfattere av denne artikkelen] (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE. ISSN 1932-6203. 9(1). doi: 10.1371/journal.pone.0086340. Fulltekst i vitenarkiv
• Gamage, Thilini Yaddehi; Misceo, Doriana; Fannemel, Madeleine & Frengen, Eirik (2013). A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy. European Journal of Medical Genetics. ISSN 1769-7212. 56(7), s. 361–364. doi: 10.1016/j.ejmg.2013.04.005.
• Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine & Frengen, Eirik (2013). Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression. American Journal of Medical Genetics. Part A. ISSN 1552-4825. 161A(5), s. 1137–1142. doi: 10.1002/ajmg.a.35823.
• Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn & Rødningen, Olaug Kristin [Vis alle 12 forfattere av denne artikkelen] (2013). Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet Journal of Rare Diseases. ISSN 1750-1172. 8. doi: 10.1186/1750-1172-8-3.
• Floor, Karyn; Barøy, Tuva; Misceo, Doriana; Kanavin, Øivind J.; Fannemel, Madeleine & Frengen, Eirik (2012). A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features. European Journal of Medical Genetics. ISSN 1769-7212. 55(12), s. 695–699. doi: 10.1016/j.ejmg.2012.08.002.
• Nakasone, Elizabeth S.; Askautrud, Hanne Arenberg; Kees, Tim; Park, Jae-Hyun; Plaks, Vicki & Ewald, Andrew J. [Vis alle 16 forfattere av denne artikkelen] (2012). Imaging Tumor-Stroma Interactions during Chemotherapy Reveals Contributions of the Microenvironment to Resistance. Cancer Cell. ISSN 1535-6108. 21(4), s. 488–503. doi: 10.1016/j.ccr.2012.02.017.
• Misceo, Doriana; Barøy, Tuva; Helle, Johan Robert; Braaten, Øivind; Fannemel, Madeleine & Frengen, Eirik (2012). 1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development. Gene. ISSN 0378-1119. 507(1), s. 85–91. doi: 10.1016/j.gene.2012.07.021.
• Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar & Strømme, Petter [Vis alle 8 forfattere av denne artikkelen] (2011). A Translocation Between Xq21.33 and 22q13.33 Causes an Intragenic SHANK3 Deletion in a Woman With Phelan-McDermid Syndrome and Hypergonadotropic Hypogonadism. American Journal of Medical Genetics. ISSN 0148-7299. 155(2), s. 403–408. doi: 10.1002/ajmg.a.33798.
• Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine & Strømme, Petter [Vis alle 7 forfattere av denne artikkelen] (2010). A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. European Journal of Medical Genetics. ISSN 1769-7212. 53(4), s. 221–224. doi: 10.1016/j.ejmg.2010.03.010.
• Barøy, Tuva; Sørensen, Kirsten; Lindeberg, Mona Mari & Frengen, Eirik (2010). shRNA Expression Constructs Designed Directly from siRNA Oligonucleotide Sequences. Molecular Biotechnology. ISSN 1073-6085. 45(2), s. 116–120. doi: 10.1007/s12033-010-9247-8.
• Askautrud, Hanne A; Størvold, G; Lindeberg, Mona M; Thorsen, Jim; Prydz, Hans & Frengen, Eirik (2009). Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells. BMC Biotechnology. ISSN 1472-6750. 9. doi: 10.1186/1472-6750-9-88.
• Shaposhnikov, Sergey; Frengen, Eirik & Collins, Andrew Richard (2009). Increasing the resolution of the comet assay using fluorescent in situ hybridization-a review. Mutagenesis. ISSN 0267-8357. 24(5), s. 383–389. doi: 10.1093/mutage/gep021.
• Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B & Jaeger, T [Vis alle 9 forfattere av denne artikkelen] (2009). SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics. ISSN 1364-6745. 10(4), s. 371–374. doi: 10.1007/s10048-009-0197-x.
• Skinningsrud, Beate; Husebye, Einar; Husebye, Eystein Sverre; Gilfillan, Gregor D; Frengen, Eirik & Erichsen, Aage [Vis alle 13 forfattere av denne artikkelen] (2009). X-Linked Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism Caused by an Inversion Disrupting a Conserved Noncoding Element Upstream of the NR0B1 (DAX1) Gene. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 94(10), s. 4086–4093. doi: 10.1210/jc.2009-0923.
• Chandriani, S; Frengen, Eirik; Cowling, V; Pendergrass, SA; Perou, CM & Whitfield, ML [Vis alle 7 forfattere av denne artikkelen] (2009). A Core MYC Gene Expression Signature is prominent in basal-like breast cancer but only partially overlaps the Core Serum Response. PLOS ONE. ISSN 1932-6203. 4(8). Fulltekst i vitenarkiv
• Askautrud, Hanne Arenberg; Gjernes, Elisabet; Størvold, Gro Leite; Lindeberg, Mona Mari; Thorsen, J & Prydz, Hans Peter B [Vis alle 7 forfattere av denne artikkelen] (2009). Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells. BMC Biotechnology. ISSN 1472-6750. 9. doi: 10.1186/1472-6750-9-88.
• Misceo, Doriana; Ørstavik, Karen Helene; Lybæk, H; Sandvig, I; Ormerod, E & Houge, G [Vis alle 7 forfattere av denne artikkelen] (2009). Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother. American Journal of Medical Genetics. ISSN 0148-7299. 149A(12), s. 2877–2881. doi: 10.1002/ajmg.a.33106.
• Misceo, Doriana; Rocchi, M; Hagen, Carl Birger van der & Frengen, Eirik (2009). A Partial Trisomy 1q Patient With a Deletion 1q22 and an Insertion 1(q42q44) Into 1q22. American Journal of Medical Genetics. ISSN 0148-7299. 149A(2), s. 290–293. doi: 10.1002/ajmg.a.32623.
• Stavik, Benedicte; Skretting, Grethe; Sletten, Marit; Frengen, Eirik; Sandset, Per Morten & Iversen, Nina (2009). Knockdown of TFPI expression in Sum102 breast cancer cells leads to pro-angiogenic phenotypes. Journal of Thrombosis and Haemostasis. ISSN 1538-7933. 7.
• Barøy, Tuva; Misceo, Doriana & Frengen, Eirik (2008). Strukturell variasjon i genomet bidrar til variasjon i egenskaper. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 128(17), s. 1951–1955.
• Shaposhnikov, Sergey; Akopov, SB; Chernov, IP; Thomsen, PD; Joergensen, C & Collins, Andrew Richard [Vis alle 8 forfattere av denne artikkelen] (2007). A map of nuclear matrix attachment regions within the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1. Genomics. ISSN 0888-7543. 89, s. 354–361. doi: 10.1016/j.ygeno.2006.11.003.
• Størvold, Gro Leite; Gjernes, Elisabet; Askautrud, Hanne Arenberg; Børresen-Dale, Anne-Lise ; Perou, Charles M & Frengen, Eirik (2007). A retroviral vector for siRNA expression in mammalian cells. Molecular Biotechnology. ISSN 1073-6085. 35(3), s. 275–282.
• Størvold, GL; Andersen, TI; Perou, CM & Frengen, Eirik (2006). siRNA, a potential tool for future breast cancer therapy? Critical reviews in oncogenesis. ISSN 0893-9675. 12, s. 127–150.
• Thorsen, Jim; Zhu, B.P; Frengen, Eirik; Osoegawa, Kazutoyo; de Jong, Pieter J. & Koop, Ben F. [Vis alle 8 forfattere av denne artikkelen] (2005). A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects. BMC Genomics. ISSN 1471-2164. 6. Vis sammendrag

  Conclusion: Identification of genes and genomic regions of interest is greatly aided by the availability of the CHORI-214 Atlantic salmon BAC library. We have demonstrated the library's ability to identify specific genes and genetic markers using hybridization, PCR and fingerprinting experiments. In addition, multiple fingerprinting contigs indicated a pseudo-tetraploidity of the Atlantic salmon genome. The highly redundant CHORI-214 BAC library is expected to be an important resource for mapping and sequencing of the Atlantic salmon genome.

• Thorsen, J; Zhu, BL; Frengen, Eirik; Osoegawa, K; de Jong, PJ & Koop, BF [Vis alle 8 forfattere av denne artikkelen] (2005). A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects. BMC Genomics. ISSN 1471-2164. 6.

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• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Corominas, Jordi; Frengen, Eirik & Misceo, Doriana (2019). TBCK encephaloneuropathy with abnormal lysosomal storage: Use of a structural variant bioinformatics pipeline on whole-genome sequencing data unravels a 20-year-old clinical mystery. Pediatric Neurology. ISSN 0887-8994. 96, s. 74–75. doi: 10.1016/j.pediatrneurol.2019.02.001.
• Hladilkova, Eva; Barøy, Tuva; Fannemel, Madeleine; Vallova, Vladimira; Misceo, Doriana & Bryn, Vesna [Vis alle 10 forfattere av denne artikkelen] (2015). A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Molecular Cytogenetics. ISSN 1755-8166. 8:57. doi: 10.1186/s13039-015-0157-0.
• Barøy, Tuva; Misceo, Doriana; Fannemel, Madeleine; Stormyr, Alice; Rødningen, Olaug Kristin & Helle, Johan Robert [Vis alle 12 forfattere av denne artikkelen] (2010). Two girls with mental retardation and behavioural abnormalities: Is the deletion of the ATXN1 gene on 6p22.3 a major factor in causing the phenotype?
• Ørstavik, Karen Helene; Misceo, Doriana; Lybæk, H; Frengen, Eirik & Houge, G (2008). A terminal 7,1 Mb chromosome 18p deletion flanked by a 2,3 Mb duplication in a phenotypically normal mother and her microcephalic and mentally retarded son. European Journal of Human Genetics. ISSN 1018-4813. 16.
• Misceo, Doriana; BJØRGO, KATHRINE; Ormerod, E; RINGEN, ØYVIND; Rocchi, M & Hagen, Carl Birger van der [Vis alle 7 forfattere av denne artikkelen] (2008). A patient with a 6p interstital deletion and a de novo complex translocation involving chromosomes 2, 6 and 14. European Journal of Human Genetics. ISSN 1018-4813. 16.
• Misceo, Doriana; BJØRGO, KATHRINE; Ormerod, Eli; RINGEN, ØYVIND; Rocchi, Mariano & Hagen, Carl Birger van der [Vis alle 7 forfattere av denne artikkelen] (2008). A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient. American Journal of Medical Genetics. Part A. ISSN 1552-4825. 146A(24), s. 3230–3233. doi: 10.1002/ajmg.a.32582.
• Stavik, Benedicte; Skretting, Grethe; Sletten, Marit; Frengen, Eirik; Sandset, Per Morten & Iversen, Nina (2008). Stable knockdown of TFPI in cancer cells influences genes involved in angiogenesis.
• Shaposhnikov, Sergey; Akopov, S; Chernov, I I.; Nikolaev, LG; Frengen, Eirik & Collins, Andrew Richard [Vis alle 7 forfattere av denne artikkelen] (2007). A map of nuclear matrix attachment regions within the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1.
• Askautrud, Hanne Arenberg; Gjernes, Elisabet; Størvold, Gro Leite; Børresen-Dale, Anne-Lise & Frengen, Eirik (2006). Hypoxia response in breast cancer models. Mechanisms and Models of Cancer.
• Gjernes, Elisabet; Størvold, Gro Leite; Askautrud, Hanne Arenberg; Børresen-Dale, Anne-Lise ; Perou, Charles M & Frengen, Eirik (2005). Functional characterization of genes involved in the development of breast cancer.
• Driouch, K; Prydz, Hans Peter B; Lidereau, R & Frengen, Eirik (2003). Altered expression of the candidate tumor suppressor gene, WWOX, in human breast tumors. European Journal of Human Genetics. ISSN 1018-4813. 10, s. 86–86.
• Shaposhnikov, Sergey; Frengen, Eirik; Thomsen, P; Zverev, V & Prydz, Hans Peter B (2003). Investigation of chromosomal DNA loop organization within a region of human chromosome 16q22.1. European Journal of Human Genetics. ISSN 1018-4813. 10, s. 170–170.

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