Genome variation in neurodevelopmental diseases or syndromes
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
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
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
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
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 2012
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