| # | Title | Journal | Year | Citations |
|---|
| 1 | Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population | Amyloid: the International Journal of Experimental and Clinical Investigation: the Official Journal of the International Society of Amyloidosis | 2008 | 142 |
| 2 | The prognostic role of KRAS, BRAF, PIK3CA and PTEN in colorectal cancer | British Journal of Cancer | 2013 | 140 |
| 3 | Prevention of Diabetes in Nonobese Diabetic Mice Mediated by CD1d-Restricted Nonclassical NKT Cells | Journal of Immunology | 2004 | 98 |
| 4 | Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23 | Blood | 2013 | 88 |
| 5 | Outcome of ETV6/RUNX1‐positive childhood acute lymphoblastic leukaemia in the NOPHO‐ALL‐1992 protocol: frequent late relapses but good overall survival | British Journal of Haematology | 2008 | 85 |
| 6 | Characterization and tissue-specific expression of human LRIG2 | Gene | 2004 | 63 |
| 7 | The Enlarged Population of Marginal Zone/CD1dhigh B Lymphocytes in Nonobese Diabetic Mice Maps to Diabetes Susceptibility Region Idd11 | Journal of Immunology | 2005 | 55 |
| 8 | Genetic screening in sudden cardiac death in the young can save future lives | International Journal of Legal Medicine | 2016 | 54 |
| 9 | CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden | BMC Medical Genetics | 2007 | 53 |
| 10 | Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families | European Journal of Human Genetics | 2007 | 52 |
| 11 | Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia | Leukemia | 2013 | 50 |
| 12 | High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols | Haematologica | 2013 | 47 |
| 13 | SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts | Scientific Reports | 2017 | 43 |
| 14 | Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum | Human Mutation | 2014 | 41 |
| 15 | Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome | Clinical Genetics | 2005 | 38 |
| 16 | The clinical impact of IKZF1 deletions in paediatric B‐cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013 | British Journal of Haematology | 2015 | 37 |
| 17 | Variation in the Cd3ζ (Cd247) Gene Correlates with Altered T Cell Activation and Is Associated with Autoimmune Diabetes | Journal of Immunology | 2010 | 35 |
| 18 | Clinical and cytogenetic features of a population‐based consecutive series of 285 pediatric T‐cell acute lymphoblastic leukemias: Rare T‐cell receptor gene rearrangements are associated with poor outcome | Genes Chromosomes and Cancer | 2009 | 33 |
| 19 | Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations | PLoS ONE | 2016 | 32 |
| 20 | Paediatric B‐cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols | British Journal of Haematology | 2011 | 31 |
| 21 | Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden | Europace | 2012 | 31 |
| 22 | Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation | Heart Rhythm | 2011 | 30 |
| 23 | EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families | BMC Medical Genetics | 2006 | 29 |
| 24 | Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)‐positive B‐cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature | Genes Chromosomes and Cancer | 2008 | 29 |
| 25 | Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma | Journal of Neuro-Oncology | 2016 | 29 |
| 26 | Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability | Clinical Genetics | 2018 | 29 |
| 27 | Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder | BMC Medical Genetics | 2012 | 28 |
| 28 | High levels of the AR-V7 Splice Variant and Co-Amplification of the Golgi Protein CodingYIPF6inARAmplified Prostate Cancer Bone Metastases | Prostate | 2017 | 27 |
| 29 | The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial | Leukemia | 2011 | 25 |
| 30 | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing | BMC Cardiovascular Disorders | 2012 | 25 |
| 31 | Simultaneous visualization of Propionibacterium acnes and Propionibacterium granulosum with immunofluorescence and fluorescence in situ hybridization | Anaerobe | 2013 | 24 |
| 32 | Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome | Cell Death and Disease | 2020 | 23 |
| 33 | Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 | European Journal of Human Genetics | 2011 | 22 |
| 34 | Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1families | BMC Cardiovascular Disorders | 2014 | 22 |
| 35 | Reduction in WT1 Gene Expression During Early Treatment Predicts the Outcome in Patients With Acute Myeloid Leukemia | Diagnostic Molecular Pathology | 2012 | 21 |
| 36 | The genetic population structure of northern Sweden and its implications for mapping genetic diseases | Hereditas | 2007 | 20 |
| 37 | Vascular density in childhood acute lymphoblastic leukaemia correlates to biological factors and outcome | British Journal of Haematology | 2009 | 19 |
| 38 | A quality assessment survey of SNP genotyping laboratories | Human Mutation | 2006 | 18 |
| 39 | CTLA-4 (CD152) and its involvement in autoimmune disease | Autoimmunity | 2005 | 17 |
| 40 | A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome | BMC Medical Genetics | 2014 | 17 |
| 41 | Frequent false‐negative FIP1L1‐PDGFRA FISH analyses of bone marrow samples from clonal eosinophilia at diagnosis | British Journal of Haematology | 2020 | 17 |
| 42 | A role for E2-2 at the DN3 stage of early thymopoiesis | Molecular Immunology | 2008 | 16 |
| 43 | Novel variants in Nordic patients referred for genetic testing of telomere-related disorders | European Journal of Human Genetics | 2018 | 14 |
| 44 | hTERT gene copy number is not associated with hTERT RNA expression or telomerase activity in colorectal cancer | International Journal of Cancer | 2005 | 13 |
| 45 | Screening for Familial Thoracic Aortic Aneurysms with Aortic Imaging Does Not Detect All Potential Carriers of the Disease | Aorta | 2015 | 13 |
| 46 | PITPNM3 is an uncommon cause of cone and cone-rod dystrophies | Ophthalmic Genetics | 2010 | 11 |
| 47 | Mutation analysis of cases of sudden unexplained death, 15 years after death: Prompt genetic evaluation after resuscitation can save future lives | Resuscitation | 2012 | 10 |
| 48 | EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation | BMC Medical Genetics | 2014 | 9 |
| 49 | Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis | BMC Medical Genetics | 2017 | 9 |
| 50 | Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders | Orphanet Journal of Rare Diseases | 2018 | 8 |
