Genome variation in neurodevelopmental diseases or syndromes
Publications 2024
Scientific Business Abstracts
QJM (in press)
DOI 10.1093/qjmed/hcae157, PubMed 39298287
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Commun Biol, 7 (1), 831
DOI 10.1038/s42003-024-06466-1, PubMed 38977784
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
Mol Genet Genomic Med, 12 (6), e2476
DOI 10.1002/mgg3.2476, PubMed 38888203
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Genes (Basel), 15 (4)
DOI 10.3390/genes15040500, PubMed 38674434
Publications 2023
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
BMC Endocr Disord, 23 (1), 155
DOI 10.1186/s12902-023-01388-1, PubMed 37474955
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
Sci Signal, 16 (771), eadd0509
DOI 10.1126/scisignal.add0509, PubMed 36749824
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage
J Clin Lab Anal, 37 (21-22), e24983
DOI 10.1002/jcla.24983, PubMed 37950505
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain, 146 (8), 3513-3527
DOI 10.1093/brain/awad086, PubMed 36917474
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928
Publications 2022
DNA methylation episignature in Gabriele-de Vries syndrome
Genet Med, 24 (4), 905-914
DOI 10.1016/j.gim.2021.12.003, PubMed 35027293
APOE-ε4 Is Associated With Reduced Verbal Memory Performance and Higher Emotional, Cognitive, and Everyday Executive Function Symptoms Two Months After Mild Traumatic Brain Injury
Front Neurol, 13, 735206
DOI 10.3389/fneur.2022.735206, PubMed 35250800
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Genet Med, 25 (1), 90-102
DOI 10.1016/j.gim.2022.09.010, PubMed 36318270
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Brain, 145 (7), 2602-2616
DOI 10.1093/brain/awac034, PubMed 35104841
Publications 2021
Apolipoprotein ɛ4 Status and Brain Structure 12 Months after Mild Traumatic Injury: Brain Age Prediction Using Brain Morphometry and Diffusion Tensor Imaging
J Clin Med, 10 (3)
DOI 10.3390/jcm10030418, PubMed 33499167
Publications 2020
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
Hum Mutat, 41 (10), 1738-1744
DOI 10.1002/humu.24075, PubMed 32643838
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
Am J Hum Genet, 106 (6), 893-904
DOI 10.1016/j.ajhg.2020.04.005, PubMed 32386558
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Hum Mutat, 41 (12), 2179-2194
DOI 10.1002/humu.24127, PubMed 33131181
Syndecan-4 Protects the Heart From the Profibrotic Effects of Thrombin-Cleaved Osteopontin
J Am Heart Assoc, 9 (3), e013518
DOI 10.1161/JAHA.119.013518, PubMed 32000579
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
Hum Mol Genet, 29 (13), 2218-2239
DOI 10.1093/hmg/ddaa108, PubMed 32504085
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 Med Genet, 21 (1), 96
DOI 10.1186/s12881-020-01024-y, PubMed 32381069
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
Clin Dysmorphol, 29 (2), 107-110
DOI 10.1097/MCD.0000000000000314, PubMed 31929336
Publications 2019
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
Cell Calcium, 85, 102110
DOI 10.1016/j.ceca.2019.102110, PubMed 31785581
The extracellular matrix proteoglycan lumican improves survival and counteracts cardiac dilatation and failure in mice subjected to pressure overload
Sci Rep, 9 (1), 9206
DOI 10.1038/s41598-019-45651-9, PubMed 31235849
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
Pediatr Neurol, 96, 74-75
DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414
Publications 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
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
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
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
Publications 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Genet Med, 20 (7), 778-784
DOI 10.1038/gim.2017.113, PubMed 28837161
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios
Gene, 624, 50-55
DOI 10.1016/j.gene.2017.04.030, PubMed 28456592
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
J Med Genet, 54 (7), 460-470
DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535
Publications 2016
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860
Publications 2015
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
Am J Med Genet A, 167A (8), 1890-6
DOI 10.1002/ajmg.a.37079, PubMed 25846056
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
DOI 10.1186/s12881-015-0260-4, PubMed 26684006
Publications 2014
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
Heart, 100 (22), 1793-8
DOI 10.1136/heartjnl-2014-305616, PubMed 25031264
Global gene expression analysis reveals a link between NDRG1 and vesicle transport
PLoS One, 9 (1), e87268
DOI 10.1371/journal.pone.0087268, PubMed 24498060
A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Gene, 539 (1), 168-72
DOI 10.1016/j.gene.2014.01.060, PubMed 24508274
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
Eur J Med Genet, 57 (9), 513-9
DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659
A dominant STIM1 mutation causes Stormorken syndrome
Hum Mutat, 35 (5), 556-64
DOI 10.1002/humu.22544, PubMed 24619930
Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: ex vivo and in vitro studies
Metabolism, 63 (5), 672-81
DOI 10.1016/j.metabol.2014.02.001, PubMed 24636346
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038
Publications 2013
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy
Eur J Med Genet, 56 (7), 361-4
DOI 10.1016/j.ejmg.2013.04.005, PubMed 23664928
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
Am J Med Genet A, 161A (5), 1137-42
DOI 10.1002/ajmg.a.35823, PubMed 23463539
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Gene, 518 (2), 457-60
DOI 10.1016/j.gene.2013.01.029, PubMed 23370340
Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay
Gene, 533 (1), 403-10
DOI 10.1016/j.gene.2013.09.090, PubMed 24095780
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
Eur J Med Genet, 56 (3), 131-7
DOI 10.1016/j.ejmg.2012.12.008, PubMed 23298620
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
PLoS One, 8 (9), e75770
DOI 10.1371/journal.pone.0075770, PubMed 24086631
Publications 2012
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Eur J Med Genet, 55 (12), 695-9
DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108
1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
Gene, 507 (1), 85-91
DOI 10.1016/j.gene.2012.07.021, PubMed 22842548
Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance
Cancer Cell, 21 (4), 488-503
DOI 10.1016/j.ccr.2012.02.017, PubMed 22516258
Publications 2011
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
Orphanet J Rare Dis, 6, 58
DOI 10.1186/1750-1172-6-58, PubMed 21878110
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855
Publications 2010
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277
Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report
Acta Paediatr, 99 (11), 1741-3
DOI 10.1111/j.1651-2227.2010.01929.x, PubMed 20608899
Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome
Eur J Pediatr, 169 (8), 983-9
DOI 10.1007/s00431-010-1161-3, PubMed 20186429
A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects
Scand Cardiovasc J, 44 (6), 331-6
DOI 10.3109/14017431.2010.525747, PubMed 21070126
[Determination of chromosome aberrations with the help of DNA arrays]
Tidsskr Nor Laegeforen, 130 (9), 944-7
DOI 10.4045/tidsskr.10.0101, PubMed 20453958
Cognitive impairment and the role of the ApoE epsilon4-allele after stroke--a 13 months follow-up study
Int J Geriatr Psychiatry, 25 (8), 833-42
DOI 10.1002/gps.2425, PubMed 19960482
Publications 2009
Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells
BMC Biotechnol, 9, 88
DOI 10.1186/1472-6750-9-88, PubMed 19835613
A core MYC gene expression signature is prominent in basal-like breast cancer but only partially overlaps the core serum response
PLoS One, 4 (8), e6693
DOI 10.1371/journal.pone.0006693, PubMed 19690609
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
DOI 10.1007/s10048-009-0197-x, PubMed 19471976
A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22
Am J Med Genet A, 149A (2), 290-3
DOI 10.1002/ajmg.a.32623, PubMed 19161140
Increasing the resolution of the comet assay using fluorescent in situ hybridization--a review
Mutagenesis, 24 (5), 383-9
DOI 10.1093/mutage/gep021, PubMed 19535362
Association between ApoE epsilon4 and cognitive impairment after stroke
Dement Geriatr Cogn Disord, 27 (6), 525-33
DOI 10.1159/000223230, PubMed 19494491
Publications 2008
[Structural variation in the human genome contributes to variation of traits]
Tidsskr Nor Laegeforen, 128 (17), 1951-5
PubMed 18787571
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Am J Hum Genet, 82 (4), 1003-10
DOI 10.1016/j.ajhg.2008.01.013, PubMed 18342287
A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient
Am J Med Genet A, 146A (24), 3230-3
DOI 10.1002/ajmg.a.32582, PubMed 19012337
ABCB4 sequence variations in young adults with cholesterol gallstone disease
Liver Int, 29 (5), 743-7
DOI 10.1111/j.1478-3231.2008.01914.x, PubMed 19018976
Publications 2007
A retroviral vector for siRNA expression in mammalian cells
Mol Biotechnol, 35 (3), 275-82
DOI 10.1007/BF02686013, PubMed 17652791