Inger-Lise Mero
- Research fellow, consultant; MD, PhD
Publications 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 213
DOI 10.1186/s13023-024-03196-9, PubMed 38778413
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 369
DOI 10.1186/s13023-024-03296-6, PubMed 39375751
Publications 2023
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
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
Brain Spine, 3, 101745
DOI 10.1016/j.bas.2023.101745, PubMed 37383439
Publications 2022
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
Nat Commun, 13 (1), 1822
DOI 10.1038/s41467-022-29280-x, PubMed 35383156
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
Am J Med Genet A, 188 (5), 1464-1475
DOI 10.1002/ajmg.a.62663, PubMed 35080095
Publications 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Am J Med Genet A, 185 (5), 1366-1378
DOI 10.1002/ajmg.a.62102, PubMed 33522091
Publications 2020
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
DOI 10.1038/s41431-020-00788-4, PubMed 33288889
Publications 2017
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391
Publications 2014
Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
J Neuroimmunol, 274 (1-2), 174-9
DOI 10.1016/j.jneuroim.2014.06.024, PubMed 25037176
Publications 2013
No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis
Ann Neurol, 73 (3), 430-2
DOI 10.1002/ana.23833, PubMed 23444327
Oligoclonal bands and age at onset correlate with genetic risk score in multiple sclerosis
Mult Scler, 20 (6), 660-8
DOI 10.1177/1352458513506503, PubMed 24099750
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Nat Genet, 45 (11), 1353-60
DOI 10.1038/ng.2770, PubMed 24076602
Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients
PLoS One, 8 (6), e64408
DOI 10.1371/journal.pone.0064408, PubMed 23785401
Associations between APOE genotypes and disease susceptibility, joint damage and lipid levels in patients with rheumatoid arthritis
PLoS One, 8 (4), e60970
DOI 10.1371/journal.pone.0060970, PubMed 23613766
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles
PLoS One, 8 (3), e58352
DOI 10.1371/journal.pone.0058352, PubMed 23472185
Publications 2012
From genes to characteristics of multiple sclerosis
Acta Neurol Scand Suppl (195), 76-83
DOI 10.1111/ane.12027, PubMed 23278661
Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus
Genes Immun, 14 (1), 62-6
DOI 10.1038/gene.2012.52, PubMed 23151489
Polymorphisms of the BDNF gene show neither association with multiple sclerosis susceptibility nor clinical course
J Neuroimmunol, 244 (1-2), 107-10
DOI 10.1016/j.jneuroim.2012.01.011, PubMed 22341604
Publications 2011
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Nature, 476 (7359), 214-9
DOI 10.1038/nature10251, PubMed 21833088
Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655
Eur J Hum Genet, 19 (10), 1100-3
DOI 10.1038/ejhg.2011.88, PubMed 21610746
Publications 2010
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene
Am J Hum Genet, 86 (2), 285-91
DOI 10.1016/j.ajhg.2010.01.017, PubMed 20159113
Association to the Glypican-5 gene in multiple sclerosis
J Neuroimmunol, 226 (1-2), 194-7
DOI 10.1016/j.jneuroim.2010.07.003, PubMed 20692050
Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus
Genes Immun, 12 (3), 191-8
DOI 10.1038/gene.2010.59, PubMed 21179112
Publications 2009
Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis
Ann Neurol, 65 (6), 658-66
DOI 10.1002/ana.21695, PubMed 19630074
A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis
Eur J Hum Genet, 18 (4), 502-4
DOI 10.1038/ejhg.2009.195, PubMed 19888296