Eirik Frengen

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Visiting address Kirkeveien 166 Laboratoriebygget 0450 Oslo
Postal address Postboks 4956 Nydalen OUS HF Ullevål sykehus 0424 Oslo

Research environment

The research group is a a part of the Research section (In Norwegian) at the Department of Medical Genetics, Oslo University Hospital (OUS).

Scientific interests

We aim to reveal information about the genetic mechanisms causing neurodevelopmental diseases or syndromes, and obtain knowledge about biological consequences leading to the clinical presentation (more information).

Teaching

  • Lecturer in genetics at the Medical School (Modul 1, blokk 2)
  • Supervisor in Problem Based Learning for students at the Medical School.
  • Supervisor for 9 PhD students (5 as main supervisor) and 20 MSc students

Scientific background

  • 1989 Cand. scient (MSc) in general genetics, University of Oslo (UoO)
  • 1993 Dr.scient (PhD) in molecular genetics, UoO. Supervised by Bill Davies at the Norwegian College of Veterinary Medicine.
  • 1993-95 Post doc at Roswell Park Cancer Institute, Buffalo, USA.
  • 1995-2002 Post doc and researcher at Biotechnology Centre of Oslo, UoO.
  • 2002 Researcher at Department of Genetics, Radiumhospitalet.
  • 2003-04 Guest Researcher at Lineberger Comprehensive Cancer Center, Chapel Hill, USA.
  • 2010-> Head of the Research section at the Department of Medical Genetics, Oslo University Hospital (OUS).
  • 2005-> empoyed at the Department of Medical Genetics, UoO.

Publications

  • Cogne, Benjamin; Latypova, Xénia; Senaratne, Lokuliyanage Dona Samudita; Martin, Ludovic; Koboldt, Daniel C. & Kellaris, Georgios [Show all 28 contributors for this article] (2020). Mutations in the Kinesin-2 motor KIF3B cause an Autosomal-Dominant Ciliopathy. American Journal of Human Genetics. ISSN 0002-9297. 106(6), p. 893–904. doi: 10.1016/j.ajhg.2020.04.005.
  • Chen, Chun-An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N.; Robak, Laurie A. & Jongmans, Marjolijn C.J. [Show all 18 contributors for this article] (2020). The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Human Mutation. ISSN 1059-7794. 41(10), p. 1738–1744. doi: 10.1002/humu.24075. Full text in Research Archive
  • Sumathipala, Dulika Sanjeewani; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H. & Frengen, Eirik [Show all 7 contributors for this article] (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), p. 107–110. doi: 10.1097/MCD.0000000000000314.
  • Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Einarsen, Ingunn Holm; Bjørndalen, Hilde & Server, Andrés [Show all 11 contributors for this article] (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, p. 1–6. doi: 10.1186/s12881-020-01024-y. Full text in Research Archive
  • Epting, Daniel; Senaratne, Lokuliyanage Dona Samudita; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika Sanjeewani & Larsen, Selma Mujezinovic [Show all 30 contributors for this article] (2020). Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. . Human Mutation. ISSN 1059-7794. p. 1–16. doi: 10.1002/humu.24127. Full text in Research Archive
  • Slavotinek, Anne; Misceo, Doriana; Htun, Stephanie; Mathisen, Linda; Frengen, Eirik & Foreman, Michelle [Show all 23 contributors for this article] (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), p. 2218–2239. doi: 10.1093/hmg/ddaa108. Full text in Research Archive
  • Yaddehi Gamage, Thilini Hansamali Gamage; Lengle, Emma; Gunnes, Gjermund; Pullisaar, Helen; Holmgren, Asbjørn & Reseland, Janne Elin [Show all 16 contributors for this article] (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.
  • Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza & Hollizeck, Sebastian [Show all 24 contributors for this article] (2018). Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics. ISSN 1061-4036. 50(3), p. 344–348. doi: 10.1038/s41588-018-0063-6. Full text in Research Archive
  • Yaddehi Gamage, Thilini Hansamali Gamage; Gunnes, Gjermund; Lee, Robert Hugh; Louch, William Edward; Holmgren, Asbjørn & Bruton, Joseph D. [Show all 19 contributors for this article] (2018). STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. Cell Calcium. ISSN 0143-4160. 76, p. 87–100. doi: 10.1016/j.ceca.2018.10.001. Full text in Research Archive
  • Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette & Holmgren, Asbjørn [Show all 17 contributors for this article] (2018). Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid. ISSN 1050-7256. 28(11), p. 1406–1415. doi: 10.1089/thy.2018.0595. Full text in Research Archive
  • Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; Paracha, Sohail Aziz & Iqbal, Zafar [Show all 26 contributors for this article] (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), p. 778–784. doi: 10.1038/gim.2017.113. Full text in Research Archive
  • Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan & Hu, Chun [Show all 75 contributors for this article] (2017). GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics. ISSN 0022-2593. 54(7), p. 460–470. doi: 10.1136/jmedgenet-2016-104509. Full text in Research Archive
  • Gabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman & Douglas, Evelyn [Show all 51 contributors for this article] (2017). YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics. ISSN 0002-9297. 100(6), p. 907–925. doi: 10.1016/j.ajhg.2017.05.006. Full text in Research Archive
  • Pedurupillay Jesuthasan, Christeen Ramane; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne & Stadheim, Barbro [Show all 12 contributors for this article] (2016). Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Neuromuscular Disorders. ISSN 0960-8966. 26(9), p. 570–575. doi: 10.1016/j.nmd.2016.06.457.
  • Pedurupillay Jesuthasan, Christeen Ramane; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik & Misceo, Doriana [Show all 7 contributors for this article] (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.
  • Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah & Hentschel, Julia [Show all 58 contributors for this article] (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. ISSN 0028-3878. 86(23), p. 2171–2178. doi: 10.1212/WNL.0000000000002740.
  • Barøy, Tuva; Pedurupillay Jesuthasan, Christeen Ramane; Bliksrud, Yngve Thomas; Rasmussen, Magnhild; Holmgren, Asbjørn & Vigeland, Magnus Dehli [Show all 13 contributors for this article] (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), p. 342–346. doi: 10.1016/j.ejmg.2016.05.005.
  • Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn & Stray-Pedersen, Asbjørg [Show all 10 contributors for this article] (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.
  • Christeen Ramane, Pedurupillay Jesuthasan; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli & Sheng, Ying [Show all 9 contributors for this article] (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), p. 657–663. doi: 10.1002/ajmg.a.36944.
  • 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), p. 1890–1896. doi: 10.1002/ajmg.a.37079.
  • Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd & Frengen, Eirik [Show all 7 contributors for this article] (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.
  • Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana & Ferdinandusse, Sacha [Show all 18 contributors for this article] (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), p. 5845–5854. doi: 10.1093/hmg/ddv305.
  • Belengeanu, Valerica; Gamage, Thilini Yaddehi; Farcas, Sorina; Stoian, Monica; Andreescu, Nicoleta & Belengeanu, Alina [Show all 8 contributors for this article] (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), p. 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. [Show all 14 contributors for this article] (2014). A Dominant STIM1 Mutation Causes Stormorken Syndrome. Human Mutation. ISSN 1059-7794. 35(5), p. 556–564. doi: 10.1002/humu.22544.
  • Fannemel, Madeleine; Barøy, Tuva; Holmgren, Asbjørn; Rødningen, Olaug Kristin; Haugsand, Trine Marie & Hansen, Børre [Show all 8 contributors for this article] (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), p. 513–519. doi: 10.1016/j.ejmg.2014.05.008.
  • 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), p. 403–410. doi: 10.1016/j.gene.2013.09.090.
  • Vetvik, Katja K; Sonerud, Tonje; Lindeberg, Mona Mari; Luders, Torben; Størkson, Ragnhild Helene & Jonsdottir, Kristin [Show all 9 contributors for this article] (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), p. 672–681. doi: 10.1016/j.metabol.2014.02.001.
  • Askautrud, Hanne Arenberg; Gjernes, Elisabet; Gunnes, Gjermund; Sletten, Marit; Ross, D. T. & Børresen-Dale, Anne-Lise [Show all 9 contributors for this article] (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. Full text in Research Archive
  • Wedding, Iselin Marie; Koht, Jeanette ; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine & Holmgren, Asbjørn [Show all 10 contributors for this article] (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. Full text in Research Archive
  • 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), p. 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), p. 1137–1142. doi: 10.1002/ajmg.a.35823.
  • Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn & Rødningen, Olaug Kristin [Show all 12 contributors for this article] (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), p. 695–699. doi: 10.1016/j.ejmg.2012.08.002.
  • 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), p. 85–91. doi: 10.1016/j.gene.2012.07.021.
  • Nakasone, Elizabeth S.; Askautrud, Hanne Arenberg; Kees, Tim; Park, Jae-Hyun; Plaks, Vicki & Ewald, Andrew J. [Show all 16 contributors for this article] (2012). Imaging Tumor-Stroma Interactions during Chemotherapy Reveals Contributions of the Microenvironment to Resistance. Cancer Cell. ISSN 1535-6108. 21(4), p. 488–503. doi: 10.1016/j.ccr.2012.02.017.
  • Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar & Strømme, Petter [Show all 8 contributors for this article] (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), p. 403–408. doi: 10.1002/ajmg.a.33798.
  • Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine & Strømme, Petter [Show all 7 contributors for this article] (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), p. 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), p. 116–120. doi: 10.1007/s12033-010-9247-8.
  • Chandriani, S; Frengen, Eirik; Cowling, V; Pendergrass, SA; Perou, CM & Whitfield, ML [Show all 7 contributors for this article] (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). Full text in Research Archive
  • 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.
  • 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), p. 383–389. doi: 10.1093/mutage/gep021.
  • Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B & Jaeger, T [Show all 9 contributors for this article] (2009). SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics. ISSN 1364-6745. 10(4), p. 371–374. doi: 10.1007/s10048-009-0197-x.
  • Misceo, Doriana; Ørstavik, Karen Helene; Lybæk, H; Sandvig, I; Ormerod, E & Houge, G [Show all 7 contributors for this article] (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), p. 2877–2881. doi: 10.1002/ajmg.a.33106.
  • Askautrud, Hanne Arenberg; Gjernes, Elisabet; Størvold, Gro Leite; Lindeberg, Mona Mari; Thorsen, J & Prydz, Hans Peter B [Show all 7 contributors for this article] (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.
  • Skinningsrud, Beate; Husebye, Einar; Husebye, Eystein Sverre; Gilfillan, Gregor D; Frengen, Eirik & Erichsen, Aage [Show all 13 contributors for this article] (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), p. 4086–4093. doi: 10.1210/jc.2009-0923.
  • 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), p. 290–293. doi: 10.1002/ajmg.a.32623.
  • 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), p. 1951–1955.
  • 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), p. 275–282.
  • Shaposhnikov, Sergey; Akopov, SB; Chernov, IP; Thomsen, PD; Joergensen, C & Collins, Andrew Richard [Show all 8 contributors for this article] (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, p. 354–361. doi: 10.1016/j.ygeno.2006.11.003.
  • 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, p. 127–150.
  • Thorsen, Jim; Zhu, B.P; Frengen, Eirik; Osoegawa, Kazutoyo; de Jong, Pieter J. & Koop, Ben F. [Show all 8 contributors for this article] (2005). A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects. BMC Genomics. ISSN 1471-2164. 6.
  • Thorsen, J; Zhu, BL; Frengen, Eirik; Osoegawa, K; de Jong, PJ & Koop, BF [Show all 8 contributors for this article] (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, p. 74–75. doi: 10.1016/j.pediatrneurol.2019.02.001.
  • Hladilkova, Eva; Barøy, Tuva; Fannemel, Madeleine; Vallova, Vladimira; Misceo, Doriana & Bryn, Vesna [Show all 10 contributors for this article] (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 [Show all 12 contributors for this article] (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 [Show all 7 contributors for this article] (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.
  • 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.
  • Misceo, Doriana; BJØRGO, KATHRINE; Ormerod, Eli; RINGEN, ØYVIND; Rocchi, Mariano & Hagen, Carl Birger van der [Show all 7 contributors for this article] (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), p. 3230–3233. doi: 10.1002/ajmg.a.32582.
  • Shaposhnikov, Sergey; Akopov, S; Chernov, I I.; Nikolaev, LG; Frengen, Eirik & Collins, Andrew Richard [Show all 7 contributors for this article] (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.
  • 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, p. 170–170.
  • 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, p. 86–86.

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Published Apr. 13, 2011 2:53 PM - Last modified July 5, 2019 4:40 PM