RSS feed

Publications (original articles or review articles) published in 2018 from OUS - Department of Medical Genetics

103 publications found

Adams CD, Richmond R, Ferreira DLS, Spiller W, Tan V, Zheng J, Würtz P, Donovan J, Hamdy F, Neal D, Lane JA, Smith GD, Relton C, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Olama AAA, Benlloch S, Muir K, Berndt SI, Conti DV, Wiklund F, Chanock SJ, Gapstur S et al. (2018)
Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study
Cancer Epidemiol Biomarkers Prev, 28 (1), 208-216
DOI 10.1158/1055-9965.EPI-18-0079, PubMed 30352818

Akkouh IA, Ueland T, Andreassen OA, Brattbakk HR, Steen VM, Hughes T, Djurovic S (2018)
Expression of TCN1 in Blood is Negatively Associated with Verbal Declarative Memory Performance
Sci Rep, 8 (1), 12654
DOI 10.1038/s41598-018-30898-5, PubMed 30139959

Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T (2018)
Effect of epilepsy on autism symptoms in Angelman syndrome
Mol Autism, 9, 2
DOI 10.1186/s13229-017-0185-1, PubMed 29340132

Bakke MJ, Agusti C, Bruusgaard JC, Sundaram AYM, Horsberg TE (2018)
Deltamethrin resistance in the salmon louse, Lepeophtheirus salmonis (Krøyer): Maternal inheritance and reduced apoptosis
Sci Rep, 8 (1), 8450
DOI 10.1038/s41598-018-26420-6, PubMed 29855496

Berg AO, Jørgensen KN, Nerhus M, Athanasiu L, Popejoy AB, Bettella F, Norbom LCB, Gurholt TP, Dahl SR, Andreassen OA, Djurovic S, Agartz I, Melle I (2018)
Vitamin D levels, brain volume, and genetic architecture in patients with psychosis
PLoS One, 13 (8), e0200250
DOI 10.1371/journal.pone.0200250, PubMed 30142216

Bitarafan F, Garshasbi M (2018)
Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease
Iran J Kidney Dis, 12 (6), 350-358
PubMed 30595564

Bjune K, Sundvold H, Leren TP, Naderi S (2018)
MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent
Atherosclerosis, 276, 28-38
DOI 10.1016/j.atherosclerosis.2018.07.009, PubMed 30025252

Bjune K, Wierød L, Naderi S (2018)
Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA
Sci Rep, 8 (1), 16174
DOI 10.1038/s41598-018-34237-6, PubMed 30385871

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
BMC Nephrol, 19 (1), 39
DOI 10.1186/s12882-018-0835-3, PubMed 29439672

Czajkowski N, Aggen SH, Krueger RF, Kendler KS, Neale MC, Knudsen GP, Gillespie NA, Røysamb E, Tambs K, Reichborn-Kjennerud T (2018)
A Twin Study of Normative Personality and DSM-IV Personality Disorder Criterion Counts: Evidence for Separate Genetic Influences
Am J Psychiatry, 175 (7), 649-656
DOI 10.1176/appi.ajp.2017.17050493, PubMed 29558815

Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN, Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama AAA, Schumacher FR, Berndt SI, Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P et al. (2018)
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Nat Commun, 9 (1), 2256
DOI 10.1038/s41467-018-04109-8, PubMed 29892050

Dahl JA, Gilfillan GD (2018)
How low can you go? Pushing the limits of low-input ChIP-seq
Brief Funct Genomics, 17 (2), 89-95
DOI 10.1093/bfgp/elx037, PubMed 29087438

Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C et al. (2018)
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
Nat Commun, 9 (1), 2098
DOI 10.1038/s41467-018-04362-x, PubMed 29844566

de Jong S, Diniz MJA, Saloma A, Gadelha A, Santoro ML, Ota VK, Noto C, Major Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics Consortium, Curtis C, Newhouse SJ, Patel H, Hall LS, O Reilly PF, Belangero SI, Bressan RA, Breen G (2018)
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
Commun Biol, 1, 163
DOI 10.1038/s42003-018-0155-y, PubMed 30320231

Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2018)
Vigorous exercise in patients with hypertrophic cardiomyopathy
Int J Cardiol, 250, 157-163
DOI 10.1016/j.ijcard.2017.07.015, PubMed 29169752

Dieset I, Mørch RH, Hope S, Hoseth EZ, Reponen EJ, Gran JM, Aas M, Michelsen AE, Reichborn-Kjennerud T, Nesvåg R, Agartz I, Melle I, Aukrust P, Djurovic S, Ueland T, Andreassen OA (2018)
An association between YKL-40 and type 2 diabetes in psychotic disorders
Acta Psychiatr Scand, 139 (1), 37-45
DOI 10.1111/acps.12971, PubMed 30328100

Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
Hered Cancer Clin Pract, 16, 4
DOI 10.1186/s13053-018-0086-0, PubMed 29371908

Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
Fam Cancer, 17 (1), 141-153
DOI 10.1007/s10689-017-0011-0, PubMed 28608266

Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
Identification of genetic variants for clinical management of familial colorectal tumors
BMC Med Genet, 19 (1), 26
DOI 10.1186/s12881-018-0533-9, PubMed 29458332

Dusanov S, Ruzzin J, Kiviranta H, Klemsdal TO, Retterstøl L, Rantakokko P, Airaksinen R, Djurovic S, Tonstad S (2018)
Associations between persistent organic pollutants and metabolic syndrome in morbidly obese individuals
Nutr Metab Cardiovasc Dis, 28 (7), 735-742
DOI 10.1016/j.numecd.2018.03.004, PubMed 29699815

EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M et al. (2018)
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Atherosclerosis, 277, 234-255
DOI 10.1016/j.atherosclerosis.2018.08.051, PubMed 30270054

Ebenesersdóttir SS, Sandoval-Velasco M, Gunnarsdóttir ED, Jagadeesan A, Guðmundsdóttir VB, Thordardóttir EL, Einarsdóttir MS, Moore KHS, Sigurðsson Á, Magnúsdóttir DN, Jónsson H, Snorradóttir S, Hovig E, Møller P, Kockum I, Olsson T, Alfredsson L, Hansen TF, Werge T, Cavalleri GL, Gilbert E, Lalueza-Fox C, Walser JW, Kristjánsdóttir S, Gopalakrishnan S et al. (2018)
Ancient genomes from Iceland reveal the making of a human population
Science, 360 (6392), 1028-1032
DOI 10.1126/science.aar2625, PubMed 29853688

Eguíluz-Gracia I, Malmstrom K, Dheyauldeen SA, Lohi J, Sajantila A, Aaløkken R, Sundaram AYM, Gilfillan GD, Makela M, Baekkevold ES, Jahnsen FL (2018)
Monocytes accumulate in the airways of children with fatal asthma
Clin Exp Allergy, 48 (12), 1631-1639
DOI 10.1111/cea.13265, PubMed 30184280

Falkenberg-Jensen B, Heimdal KR, Høgevold HE, Jablonski GE, Due-Tønnessen BJ, Hopp E (2018)
Abnormally wide eustachian tubes involving the sphenoid bone: A collection
Laryngoscope Investig Otolaryngol, 3 (3), 214-217
DOI 10.1002/lio2.158, PubMed 30062137

Fjermestad KW, Nyhus L, Kanavin ØJ, Heiberg A, Hoxmark LB (2018)
Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
J Genet Couns, 27 (5), 1102-1110
DOI 10.1007/s10897-018-0229-5, PubMed 29429039

Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E (2018)
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
Cell Calcium, 76, 87-100
DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422

Guderud K, Mæhlen MT, Nordang GBN, Viken MK, Andreassen BK, Molberg Ø, Flåm ST, Lie BA (2018)
Lack of Association among Peptidyl Arginine Deiminase Type 4 Autoantibodies, PADI4 Polymorphisms, and Clinical Characteristics in Rheumatoid Arthritis
J Rheumatol, 45 (9), 1211-1219
DOI 10.3899/jrheum.170769, PubMed 29858238

Hasselberg NE, Berge KE, Rasmussen M, Früh A, Ørstavik K, Haugaa KH (2018)
[Cardiomyopathy in hereditary muscular dystrophies]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.16.0683, PubMed 29313627

Hasselberg NE, Haland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T, Haugaa KH (2018)
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
Eur Heart J, 39 (10), 853-860
DOI 10.1093/eurheartj/ehx596, PubMed 29095976

Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH, Brodtkorb E (2018)
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
Epilepsy Res, 145, 134-139
DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812

Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH (2018)
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
BMC Med Genet, 19 (1), 184
DOI 10.1186/s12881-018-0700-z, PubMed 30305042

Heramb C, Wangensteen T, Grindedal EM, Ariansen SL, Lothe S, Heimdal KR, Mæhle L (2018)
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway
Hered Cancer Clin Pract, 16, 3
DOI 10.1186/s13053-017-0085-6, PubMed 29339979

Hjorthaug HS, Gervin K, Mowinckel P, Munthe-Kaas MC (2018)
Exploring the influence from whole blood DNA extraction methods on Infinium 450K DNA methylation
PLoS One, 13 (12), e0208699
DOI 10.1371/journal.pone.0208699, PubMed 30540848

Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
Exploring the Wnt signaling pathway in schizophrenia and bipolar disorder
Transl Psychiatry, 8 (1), 55
DOI 10.1038/s41398-018-0102-1, PubMed 29507296

Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
Attenuated Notch signaling in schizophrenia and bipolar disorder
Sci Rep, 8 (1), 5349
DOI 10.1038/s41598-018-23703-w, PubMed 29593239

Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2018)
Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia: A Register Study From Norway
Stroke, 50 (1), 172-174
DOI 10.1161/STROKEAHA.118.023456, PubMed 30580708

Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L, Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S (2018)
Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder
Transl Psychiatry, 8 (1), 210
DOI 10.1038/s41398-018-0175-x, PubMed 30297702

Jiang X, Dong X, Li SH, Zhou YP, Rayner S, Xia HM, Gao GF, Yuan H, Tang YP, Luo MH (2018)
Proteomic Analysis of Zika Virus Infected Primary Human Fetal Neural Progenitors Suggests a Role for Doublecortin in the Pathological Consequences of Infection in the Cortex
Front Microbiol, 9, 1067
DOI 10.3389/fmicb.2018.01067, PubMed 29922247

Johnsen GM, Størvold GL, Drabbels JJM, Haasnoot GW, Eikmans M, Spruyt-Gerritse MJ, Alnæs-Katjavivi P, Scherjon SA, Redman CWG, Claas FHJ, Staff AC (2018)
The combination of maternal KIR-B and fetal HLA-C2 is associated with decidua basalis acute atherosis in pregnancies with preeclampsia
J Reprod Immunol, 129, 23-29
DOI 10.1016/j.jri.2018.07.005, PubMed 30055414

Kaikkonen E, Rantapero T, Zhang Q, Taimen P, Laitinen V, Kallajoki M, Jambulingam D, Ettala O, Knaapila J, Boström PJ, Wahlström G, Sipeky C, Pursiheimo JP, Tammela T, Kellokumpu-Lehtinen PL, PRACTICAL Consortium, Fey V, Maehle L, Wiklund F, Wei GH, Schleutker J (2018)
ANO7 is associated with aggressive prostate cancer
Int J Cancer, 143 (10), 2479-2487
DOI 10.1002/ijc.31746, PubMed 30157291

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2018)
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 21 (4), 850-860
DOI 10.1038/s41436-018-0259-2, PubMed 30245513

Kim SJ, Huzarski T, Gronwald J, Singer CF, Møller P, Lynch HT, Armel S, Karlan BY, Foulkes WD, Neuhausen SL, Senter L, Eisen A, Eng C, Panchal S, Pal T, Olopade O, Zakalik D, Lubinski J, Narod SA, Kotsopoulos J, (2018)
Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
Int J Epidemiol, 47 (3), 987-997
DOI 10.1093/ije/dyy039, PubMed 29547931

Kondratskaya E, Ievglevskyi O, Züchner M, Samara A, Glover JC, Boulland JL (2018)
Locomotor central pattern generator excitability states and serotonin sensitivity after spontaneous recovery from a neonatal lumbar spinal cord injury
Brain Res, 1708, 10-19
DOI 10.1016/j.brainres.2018.12.001, PubMed 30521786

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C (2018)
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Nat Genet, 50 (3), 344-348
DOI 10.1038/s41588-018-0063-6, PubMed 29483653

Kotsopoulos J, Gronwald J, Karlan B, Rosen B, Huzarski T, Moller P, Lynch HT, Singer CF, Senter L, Neuhausen SL, Tung N, Eisen A, Foulkes WD, Ainsworth P, Sun P, Lubinski J, Narod SA, Hereditary Ovarian Cancer Clinical Study Group (2018)
Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation
Gynecol Oncol, 150 (1), 85-91
DOI 10.1016/j.ygyno.2018.05.011, PubMed 29793803

Kotsopoulos J, Gronwald J, Karlan BY, Huzarski T, Tung N, Moller P, Armel S, Lynch HT, Senter L, Eisen A, Singer CF, Foulkes WD, Jacobson MR, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2018)
Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers
JAMA Oncol, 4 (8), 1059-1065
DOI 10.1001/jamaoncol.2018.0211, PubMed 29710224

Kulkarni RU, Vandenberghe M, Thunemann M, James F, Andreassen OA, Djurovic S, Devor A, Miller EW (2018)
In Vivo Two-Photon Voltage Imaging with Sulfonated Rhodamine Dyes
ACS Cent Sci, 4 (10), 1371-1378
DOI 10.1021/acscentsci.8b00422, PubMed 30410975

Kverneland M, Molteberg E, Iversen PO, Veierød MB, Taubøll E, Selmer KK, Nakken KO (2018)
Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial
Epilepsia, 59 (8), 1567-1576
DOI 10.1111/epi.14457, PubMed 29901816

Lande A, Andersen I, Egeland T, Lie BA, Viken MK (2018)
HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians
Hum Immunol, 79 (7), 527-529
DOI 10.1016/j.humimm.2018.04.012, PubMed 29684411

Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N (2018)
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Hum Genomics, 12 (1), 51
DOI 10.1186/s40246-018-0183-1, PubMed 30458859

LeBlanc M, Nustad HE, Zucknick M, Page CM (2018)
Quality control for Illumina 450K methylation data in the absence of iDat files using correlation structure in pedigrees and repeated measures
BMC Genet, 19 (Suppl 1), 66
DOI 10.1186/s12863-018-0636-5, PubMed 30255766

Li W, Fan CC, Mäki-Marttunen T, Thompson WK, Schork AJ, Bettella F, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Djurovic S, Dale AM, Andreassen OA, Wang Y (2018)
A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia
Am J Med Genet B Neuropsychiatr Genet, 177 (4), 454-467
DOI 10.1002/ajmg.b.32634, PubMed 29704319

Lillestøl K (2018)
'Neurasthenia gastrica' revisited: perceptions of nerve-gut interactions in nervous exhaustion, 1880-1920
Microb Ecol Health Dis, 29 (2), 1553438
DOI 10.1080/16512235.2018.1553438, PubMed 30651725

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH et al. (2018)
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Eur J Hum Genet, 26 (3), 330-339
DOI 10.1038/s41431-017-0088-9, PubMed 29343805

Matejcic M, Saunders EJ, Dadaev T, Brook MN, Wang K, Sheng X, Olama AAA, Schumacher FR, Ingles SA, Govindasami K, Benlloch S, Berndt SI, Albanes D, Koutros S, Muir K, Stevens VL, Gapstur SM, Tangen CM, Batra J, Clements J, Gronberg H, Pashayan N, Schleutker J, Wolk A, West C et al. (2018)
Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nat Commun, 9 (1), 4616
DOI 10.1038/s41467-018-06863-1, PubMed 30397198

Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B et al. (2018)
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Am J Med Genet A, 176 (4), 862-876
DOI 10.1002/ajmg.a.38626, PubMed 29460469

Mikropoulos C, Hutten Selkirk CG, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W et al. (2018)
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Br J Cancer, 118 (6), e17
DOI 10.1038/bjc.2018.11, PubMed 29509747

Mikropoulos C, Selkirk CGH, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W et al. (2018)
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Br J Cancer, 118 (2), 266-276
DOI 10.1038/bjc.2017.429, PubMed 29301143

Mundal LJ, Igland J, Veierød MB, Holven KB, Ose L, Selmer RM, Wisloff T, Kristiansen IS, Tell GS, Leren TP, Retterstøl K (2018)
Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia
Heart, 104 (19), 1600-1607
DOI 10.1136/heartjnl-2017-312706, PubMed 29622598

Navarro-Fernández J, Eugenia de la Morena-Barrio M, Martínez-Alonso E, Dybedal I, Toderici M, Bohdan N, Miñano A, Heimdal K, Abildgaard U, Martínez-Menárguez JÁ, Corral J, Vicente V (2018)
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
Oncotarget, 9 (69), 33202-33214
DOI 10.18632/oncotarget.26059, PubMed 30237862

Norum J, Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Undlien DE, Schlichting E, Mæhle L (2018)
BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer
ESMO Open, 3 (3), e000328
DOI 10.1136/esmoopen-2018-000328, PubMed 29682331

Nustad HE, Almeida M, Canty AJ, LeBlanc M, Page CM, Melton PE (2018)
Epigenetics, heritability and longitudinal analysis
BMC Genet, 19 (Suppl 1), 77
DOI 10.1186/s12863-018-0648-1, PubMed 30255778

Nustad HE, Page CM, Reiner AH, Zucknick M, LeBlanc M (2018)
A Bayesian mixed modeling approach for estimating heritability
BMC Proc, 12 (Suppl 9), 31
DOI 10.1186/s12919-018-0131-z, PubMed 30275883

Opsahl EM, Akslen LA, Schlichting E, Aas T, Brauckhoff K, Hagen AI, Rosenlund AF, Sigstad E, Grøholt KK, Mæhle L, Engebretsen LF, Jørgensen LH, Varhaug JE, Bjøro T (2018)
Trends in Diagnostics, Surgical Treatment, and Prognostic Factors for Outcomes in Medullary Thyroid Carcinoma in Norway: A Nationwide Population-Based Study
Eur Thyroid J, 8 (1), 31-40
DOI 10.1159/000493977, PubMed 30800639

Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM et al. (2018)
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Nat Genet, 50 (3), 381-389
DOI 10.1038/s41588-018-0059-2, PubMed 29483656

Pla A, Zhong X, Rayner S (2018)
miRAW: A deep learning-based approach to predict microRNA targets by analyzing whole microRNA transcripts
PLoS Comput Biol, 14 (7), e1006185
DOI 10.1371/journal.pcbi.1006185, PubMed 30005074

Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G (2018)
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Eur J Hum Genet, 26 (7), 960-971
DOI 10.1038/s41431-018-0130-6, PubMed 29681619

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B (2018)
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
BMC Med Genet, 19 (1), 155
DOI 10.1186/s12881-018-0671-0, PubMed 30170566

Rounge TB, Umu SU, Keller A, Meese E, Ursin G, Tretli S, Lyle R, Langseth H (2018)
Circulating small non-coding RNAs associated with age, sex, smoking, body mass and physical activity
Sci Rep, 8 (1), 17650
DOI 10.1038/s41598-018-35974-4, PubMed 30518766

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C (2018)
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Eur J Neurol, 25 (7), 943-e71
DOI 10.1111/ene.13625, PubMed 29528531

Santoro F, Pettini E, Kazmin D, Ciabattini A, Fiorino F, Gilfillan GD, Evenroed IM, Andersen P, Pozzi G, Medaglini D (2018)
Transcriptomics of the Vaccine Immune Response: Priming With Adjuvant Modulates Recall Innate Responses After Boosting
Front Immunol, 9, 1248
DOI 10.3389/fimmu.2018.01248, PubMed 29922291

Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA, Karlsson R, Krapohl E, Lam M, Nygaard M, Reynolds CA, Trampush JW, Young H, Zabaneh D, Hägg S, Hansell NK, Karlsson IK, Linnarsson S et al. (2018)
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
Nat Genet, 50 (7), 912-919
DOI 10.1038/s41588-018-0152-6, PubMed 29942086

Schumacher FR, Al Olama AA, Berndt SI, Benlloch S, Ahmed M, Saunders EJ, Dadaev T, Leongamornlert D, Anokian E, Cieza-Borrella C, Goh C, Brook MN, Sheng X, Fachal L, Dennis J, Tyrer J, Muir K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman PJ, Thompson IM, Batra J et al. (2018)
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
Nat Genet, 50 (7), 928-936
DOI 10.1038/s41588-018-0142-8, PubMed 29892016

Segorbe D, Wilkinson D, Mizeranschi A, Hughes T, Aaløkken R, Váchová L, Palková Z, Gilfillan GD (2018)
An optimized FAIRE procedure for low cell numbers in yeast
Yeast, 35 (8), 507-512
DOI 10.1002/yea.3316, PubMed 29577419

Singer CF, Balmaña J, Bürki N, Delaloge S, Filieri ME, Gerdes AM, Grindedal EM, Han S, Johansson O, Kaufman B, Krajc M, Loman N, Olah E, Paluch-Shimon S, Plavetic ND, Pohlodek K, Rhiem K, Teixeira M, Evans DG (2018)
Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations
Eur J Cancer, 106, 54-60
DOI 10.1016/j.ejca.2018.10.007, PubMed 30471648

Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L (2018)
Whole-exome sequencing for diagnosis of hereditary ichthyosis
J Eur Acad Dermatol Venereol, 32 (6), 1022-1027
DOI 10.1111/jdv.14870, PubMed 29444371

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J (2018)
Homocarnosinosis: A historical update and findings in the SPG11 gene
Acta Neurol Scand, 138 (3), 245-250
DOI 10.1111/ane.12949, PubMed 29732542

Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC (2018)
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
J Neurodev Disord, 10 (1), 17
DOI 10.1186/s11689-018-9235-z, PubMed 29788902

Smeland OB, Wang Y, Frei O, Li W, Hibar DP, Franke B, Bettella F, Witoelar A, Djurovic S, Chen CH, Thompson PM, Dale AM, Andreassen OA (2018)
Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms
Schizophr Bull, 44 (4), 854-864
DOI 10.1093/schbul/sbx148, PubMed 29136250

Srinivasan S, Bettella F, Frei O, Hill WD, Wang Y, Witoelar A, Schork AJ, Thompson WK, Davies G, Desikan RS, Deary IJ, Melle I, Ueland T, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2018)
Enrichment of genetic markers of recent human evolution in educational and cognitive traits
Sci Rep, 8 (1), 12585
DOI 10.1038/s41598-018-30387-9, PubMed 30135563

Steineger J, Osnes T, Heimdal K, Dheyauldeen S (2018)
Long-term experience with intranasal bevacizumab therapy
Laryngoscope, 128 (10), 2237-2244
DOI 10.1002/lary.27147, PubMed 29469958

Steineger J, Ueland T, Aukrust P, Michelsen A, Osnes T, Heimdal K, Dheyauldeen S (2018)
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis
Laryngoscope, 129 (1), E44-E49
DOI 10.1002/lary.27548, PubMed 30329172

Stokowy T, Polushina T, Sønderby IE, Karlsson R, Giddaluru S, Le Hellard S, Bergen SE, Sullivan PF, Andreassen OA, Djurovic S, Hultman CM, Steen VM (2018)
Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes
Sci Rep, 8 (1), 6915
DOI 10.1038/s41598-018-25280-4, PubMed 29720671

Stormorken AT, Berg T, Norum OJ, Hølmebakk T, Aaberg K, Steigen SE, Grindedal EM (2018)
APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis
Fam Cancer, 17 (4), 539-543
DOI 10.1007/s10689-018-0072-8, PubMed 29368261

Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ (2018)
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Thyroid, 28 (11), 1406-1415
DOI 10.1089/thy.2018.0595, PubMed 30296914

Stüken A, Haverkamp THA, Dirven HAAM, Gilfillan GD, Leithaug M, Lund V (2018)
Microbial Community Composition of Tap Water and Biofilms Treated with or without Copper-Silver Ionization
Environ Sci Technol, 52 (6), 3354-3364
DOI 10.1021/acs.est.7b05963, PubMed 29461810

Størdal K, McArdle HJ, Hayes H, Tapia G, Viken MK, Lund-Blix NA, Haugen M, Joner G, Skrivarhaug T, Mårild K, Njølstad PR, Eggesbø M, Mandal S, Page CM, London SJ, Lie BA, Stene LC (2018)
Prenatal iron exposure and childhood type 1 diabetes
Sci Rep, 8 (1), 9067
DOI 10.1038/s41598-018-27391-4, PubMed 29899542

Szabo A, Gogolak P, Koncz G, Foldvari Z, Pazmandi K, Miltner N, Poliska S, Bacsi A, Djurovic S, Rajnavolgyi E (2018)
Immunomodulatory capacity of the serotonin receptor 5-HT2B in a subset of human dendritic cells
Sci Rep, 8 (1), 1765
DOI 10.1038/s41598-018-20173-y, PubMed 29379077

Søberg K, Skålhegg BS (2018)
The Molecular Basis for Specificity at the Level of the Protein Kinase a Catalytic Subunit
Front Endocrinol (Lausanne), 9, 538
DOI 10.3389/fendo.2018.00538, PubMed 30258407

Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S et al. (2018)
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Mol Psychiatry, 25 (3), 584-602
DOI 10.1038/s41380-018-0118-1, PubMed 30283035

Teixeira da Costa L, Powell C, van Noort S, Costa C, Sinno M, Caleca V, Rhode C, Kennedy RJ, van Staden M, van Asch B (2018)
The complete mitochondrial genome of Bactrocera biguttula (Bezzi) (Diptera: Tephritidae) and phylogenetic relationships with other Dacini
Int J Biol Macromol, 126, 130-140
DOI 10.1016/j.ijbiomac.2018.12.186, PubMed 30584936

Thunemann M, Lu Y, Liu X, Kılıç K, Desjardins M, Vandenberghe M, Sadegh S, Saisan PA, Cheng Q, Weldy KL, Lyu H, Djurovic S, Andreassen OA, Dale AM, Devor A, Kuzum D (2018)
Deep 2-photon imaging and artifact-free optogenetics through transparent graphene microelectrode arrays
Nat Commun, 9 (1), 2035
DOI 10.1038/s41467-018-04457-5, PubMed 29789548

Tinholt M, Garred Ø, Borgen E, Beraki E, Schlichting E, Kristensen V, Sahlberg KK, Iversen N (2018)
Subtype-specific clinical and prognostic relevance of tumor-expressed F5 and regulatory F5 variants in breast cancer: the CoCaV study
J Thromb Haemost, 16 (7), 1347-1356
DOI 10.1111/jth.14151, PubMed 29766637

Tuveng JM, Berling BM, Bunford G, Vanoye CG, Welch RC, Leren TP, George AL, Rognum TO (2018)
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death
Forensic Sci Med Pathol, 14 (3), 367-371
DOI 10.1007/s12024-018-9989-3, PubMed 29881912

Vaccaro CA, López-Kostner F, Adriana DV, Palmero EI, Rossi BM, Antelo M, Solano A, Carraro DM, Forones NM, Bohorquez M, Lino-Silva LS, Buleje J, Spirandelli F, Abe-Sandes K, Nascimento I, Sullcahuaman Y, Sarroca C, Gonzalez ML, Herrando AI, Alvarez K, Neffa F, Galvão HC, Esperon P, Golubicki M, Cisterna D et al. (2018)
From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America
Int J Cancer, 145 (2), 318-326
DOI 10.1002/ijc.31920, PubMed 30303536

van der Meer D, Rokicki J, Kaufmann T, Córdova-Palomera A, Moberget T, Alnæs D, Bettella F, Frei O, Doan NT, Sønderby IE, Smeland OB, Agartz I, Bertolino A, Bralten J, Brandt CL, Buitelaar JK, Djurovic S, van Donkelaar M, Dørum ES, Espeseth T, Faraone SV, Fernández G, Fisher SE, Franke B, Haatveit B et al. (2018)
Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes
Mol Psychiatry, 25 (11), 3053-3065
DOI 10.1038/s41380-018-0262-7, PubMed 30279459

Vanem TT, Geiran OR, Krohg-Sørensen K, Røe C, Paus B, Rand-Hendriksen S (2018)
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome
Mol Genet Genomic Med, 6 (6), 1114-1123
DOI 10.1002/mgg3.489, PubMed 30393980

Wilkinson D, Maršíková J, Hlaváček O, Gilfillan GD, Ježková E, Aaløkken R, Váchová L, Palková Z (2018)
Transcriptome Remodeling of Differentiated Cells during Chronological Ageing of Yeast Colonies: New Insights into Metabolic Differentiation
Oxid Med Cell Longev, 2018, 4932905
DOI 10.1155/2018/4932905, PubMed 29576850

Wilkinson D, Váchová L, Hlaváček O, Maršíková J, Gilfillan GD, Palková Z (2018)
Long Noncoding RNAs in Yeast Cells and Differentiated Subpopulations of Yeast Colonies and Biofilms
Oxid Med Cell Longev, 2018, 4950591
DOI 10.1155/2018/4950591, PubMed 29765496

Witoelar A, Rongve A, Almdahl IS, Ulstein ID, Engvig A, White LR, Selbæk G, Stordal E, Andersen F, Brækhus A, Saltvedt I, Engedal K, Hughes T, Bergh S, Bråthen G, Bogdanovic N, Bettella F, Wang Y, Athanasiu L, Bahrami S, Le Hellard S, Giddaluru S, Dale AM, Sando SB, Steinberg S et al. (2018)
Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci
Sci Rep, 8 (1), 18088
DOI 10.1038/s41598-018-36429-6, PubMed 30591712

Yang B, Liu XJ, Yao Y, Jiang X, Wang XZ, Yang H, Sun JY, Miao Y, Wang W, Huang ZL, Wang Y, Tang Q, Rayner S, Britt WJ, McVoy MA, Luo MH, Zhao F (2018)
WDR5 Facilitates Human Cytomegalovirus Replication by Promoting Capsid Nuclear Egress
J Virol, 92 (9)
DOI 10.1128/JVI.00207-18, PubMed 29437978

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Genet Med, 21 (3), 663-675
DOI 10.1038/s41436-018-0085-6, PubMed 30158690

Zuber V, Jönsson EG, Frei O, Witoelar A, Thompson WK, Schork AJ, Bettella F, Wang Y, Djurovic S, Smeland OB, Dieset I, Fanous AH, Desikan RS, Küry S, Bézieau S, Dale AM, Mills IG, Andreassen OA (2018)
Identification of shared genetic variants between schizophrenia and lung cancer
Sci Rep, 8 (1), 674
DOI 10.1038/s41598-017-16481-4, PubMed 29330379