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- 2024
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Mark
SMIM1 absence is associated with reduced energy expenditure and excess weight
2024) In Med (New York, N.Y.)(
- Contribution to journal › Article
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Mark
An intronic polymorphism associated with 2,3-bisphosphoglycerate levels in human red cells is linked to expression of RhCE blood groups
2024) In Proceedings of the National Academy of Sciences of the United States of America 121(36). p.1-2(
- Contribution to journal › Letter
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Mark
Haplotype analysis identifies functional elements in monoclonal gammopathy of unknown significance
(
- Contribution to journal › Article
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Mark
Genetic counselling legislation and practice in cancer in EU Member States
(
- Contribution to journal › Article
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Mark
Heritability of Atrial Fibrillation Among Swedish Adoptees
(
- Contribution to journal › Letter
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Mark
The fifth international hackathon for developing computational cloud-based tools and resources for pan-structural variation and genomics
(
- Contribution to journal › Article
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Mark
Deciphering the genetics and mechanisms of predisposition to multiple myeloma
(
- Contribution to journal › Article
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Mark
TLE3 Is a Novel Fusion Partner of JAK2 in Myeloid/Lymphoid Neoplasm With Eosinophilia Responding to JAK2 Inhibition
(
- Contribution to journal › Article
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Mark
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
(
- Contribution to journal › Article
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Mark
Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
(
- Contribution to journal › Article
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Mark
Precision Diagnostics in Myeloid Malignancies : Development and Validation of a National Capture-Based Gene Panel
(
- Contribution to journal › Article
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Mark
DNA methylation governs the sensitivity of repeats to restriction by the HUSH-MORC2 corepressor
(
- Contribution to journal › Article
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Mark
Human Genetic Variation at rs10071329 Correlates with Adiposity-related Traits, Modulates PPARGC1B Expression, and Alters Brown Adipocyte Function
2024) In Diabetes(
- Contribution to journal › Article
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Mark
Epigenetic Fingerprint of the SARS-CoV-2 Infection in the Lung of Lethal COVID-19
2024) In Chest(
- Contribution to journal › Article
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Mark
Coagulation abnormalities and vascular complications are common in PGM1-CDG
(
- Contribution to journal › Article
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Mark
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
(
- Contribution to journal › Article
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Mark
Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges
(
- Contribution to journal › Scientific review
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Mark
Genome-wide discovery for biomarkers using quantile regression at biobank scale
(
- Contribution to journal › Article
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Mark
KnockoffHybrid : A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies
(
- Contribution to journal › Article
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Mark
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
(
- Contribution to journal › Article
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Mark
Genetic association of glycemic traits and antihyperglycemic agent target genes with the risk of lung cancer: A Mendelian randomization study
2024) In Diabetes & metabolic syndrome(
- Contribution to journal › Article
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Mark
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
(
- Contribution to journal › Article
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Mark
Red-Haired People's Altered Responsiveness to Pain, Analgesics, and Hypnotics : Myth or Fact?-A Narrative Review
(
- Contribution to journal › Scientific review
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Mark
The Gly82Ser polymorphism in the receptor for advanced glycation endproducts increases the risk for coronary events in the general population
(
- Contribution to journal › Article
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Mark
Genetic determinants of renal scarring in children with febrile UTI
2024) In Pediatric Nephrology(
- Contribution to journal › Article
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Mark
Transcriptome-Wide Association Analysis Identifies Candidate Susceptibility Genes for Prostate-Specific Antigen Levels in Men Without Prostate Cancer
2024) In Human Genetics and Genomics Advances(
- Contribution to journal › Article
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Mark
Epigenome-wide association study of DNA methylation in maternal blood leukocytes with BMI in pregnancy and gestational weight gain
2024) In International Journal of Obesity(
- Contribution to journal › Article
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Mark
The MSC-EV-microRNAome : A Perspective on Therapeutic Mechanisms of Action in Sepsis and ARDS
(
- Contribution to journal › Scientific review
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Mark
Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous
(
- Contribution to journal › Article
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Mark
Genetic and phenotypic discordance in cardiometabolic diseases
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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Mark
Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration
(
- Contribution to journal › Article
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Mark
A genomic mutational constraint map using variation in 76,156 human genomes
(
- Contribution to journal › Article
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Mark
Antihypertensive drug targets and breast cancer risk : a two-sample Mendelian randomization study
2024) In European Journal of Epidemiology(
- Contribution to journal › Article
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Mark
The HLA region in ANCA-associated vasculitis : characterisation of genetic associations in a Scandinavian patient population
(
- Contribution to journal › Article
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Mark
Decoding Genetic Enigmas in Sarcoma
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- Contribution to journal › Article
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
(
- Contribution to journal › Article
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Mark
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma
(
- Contribution to journal › Article
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Mark
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes
(
- Contribution to journal › Article
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Mark
Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications
2024) In Human Genetics(
- Contribution to journal › Article
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Mark
Phylogenetic analysis of pediatric tumors
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Decoding pan-cancer complexity. Multiomic insights from the lung and breast
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Editorial : Celebration of DNA Day
(
- Contribution to journal › Debate/Note/Editorial
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Mark
AβPP-tau-HAS1 axis trigger HAS1-related nuclear speckles and gene transcription in Alzheimer's disease
(
- Contribution to journal › Article
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Mark
Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci
(
- Contribution to journal › Article
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Mark
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
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Mark
Gene amplification in neoplasia : A cytogenetic survey of 80 131 cases
(
- Contribution to journal › Article
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Mark
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway
(
- Contribution to journal › Article
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Mark
Weaponized genomics : potential threats to international and human security
(
- Contribution to journal › Letter
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article