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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
MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma
(
- 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
-
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)
-
Mark
A genome-wide association study of social trust in 33,882 Danish blood donors
(
- Contribution to journal › Article
-
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
-
Mark
Decoding Genetic Enigmas in Sarcoma
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- Contribution to journal › Article
-
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
-
Mark
Of gains and losses : SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome
(
- Contribution to journal › Scientific review
-
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
-
Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
-
Mark
Variability of polygenic prediction for body mass index in Africa
(
- Contribution to journal › Article
- 2023
-
Mark
Best Practices to Promote Data Utility and Reuse by the Non-Traditional Model Organism Community
(
- Contribution to journal › Article
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Mark
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases : 2005-2022
(
- Contribution to journal › Article
-
Mark
Identifying actionable druggable targets for breast cancer : Mendelian randomization and population-based analyses
(
- Contribution to journal › Article
-
Mark
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
(
- Contribution to journal › Article
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Mark
BRCA1 frameshift variants leading to extended incorrect protein C termini
(
- Contribution to journal › Article
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Mark
Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
(
- Contribution to journal › Article
-
Mark
Transcription factor networks link B-lymphocyte development and malignant transformation in leukemia
(
- Contribution to journal › Scientific review
-
Mark
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
(
- Contribution to journal › Article
-
Mark
Epigenetics and Obesity
(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
(
- Contribution to journal › Article
-
Mark
The molecular genetic landscape of human brain size variation
(
- Contribution to journal › Article
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Mark
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
(
- Contribution to journal › Article
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Mark
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci
(
- Contribution to journal › Article
-
Mark
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
(
- Contribution to journal › Article
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Mark
A large meta-analysis identifies genes associated with anterior uveitis
(
- Contribution to journal › Article
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Mark
Inactivation of RB1, CDKN2A and TP53 have distinct effects on genomic stability at side-by-side comparison in karyotypically normal cells
(
- Contribution to journal › Article
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Mark
Epigenome-wide association study of serum folate in maternal peripheral blood leukocytes
(
- Contribution to journal › Article
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Mark
Proteogenomic mapping sets stage for precision medicine
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
-
Mark
Germline variants of the genes involved in NF-kB activation are associated with the risk of COPD and lung cancer development
(
- Contribution to journal › Article
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Mark
A novel scatterplot-based method to detect copy number variation (CNV)
(
- Contribution to journal › Article
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Mark
Multimorbidity can run in families - What are implications for clinical practice?
2023) In BMJ(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Rare-variant collapsing and bioinformatic analyses for amyloidosis, dementia and Parkinson’s disease in the UK biobank reveal novel susceptibility loci
(
- Contribution to journal › Letter
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Mark
Fast and sensitive validation of fusion transcripts in whole-genome sequencing data
(
- Contribution to journal › Article
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Mark
Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion)
2023) In Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 36(2).(
- Contribution to journal › Article
-
Mark
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
(
- Contribution to journal › Article
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Mark
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
(
- Contribution to journal › Article
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Mark
Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer
(
- Contribution to journal › Article
-
Mark
Causality assessment of circulating Vitamin D level on venous thromboembolism : A Mendelian randomization study
(
- Contribution to journal › Article
-
Mark
Insertion of the CXXC domain of KMT2A into YAP1 : An unusual mechanism behind the formation of a chimeric oncogenic protein
(
- Contribution to journal › Article
-
Mark
Role of mitochondria in early molecular diagnosis and prognosis of cancer
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease
(
- Contribution to journal › Article
-
Mark
Gestational weight gain in pregnant women with obesity is associated with cord blood DNA methylation, which partially mediates offspring anthropometrics
(
- Contribution to journal › Article
-
Mark
Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort
(
- Contribution to journal › Article
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Mark
Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
(
- Contribution to journal › Published meeting abstract
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Mark
A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology
(
- Contribution to journal › Article
-
Mark
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
(
- Contribution to journal › Article
-
Mark
A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
(
- Contribution to journal › Article
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Mark
Evaluation of genetic demultiplexing of single-cell sequencing data from model species
(
- Contribution to journal › Article
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Mark
Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia : Associations with chromosome 21 gains and SH2B3 mutations
(
- Contribution to journal › Article
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Mark
Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation
(
- Contribution to journal › Article
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Mark
Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis
(
- Contribution to journal › Article
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Mark
Cross-Ancestry DNA Methylation Marks of Insulin Resistance in Pregnancy : An Integrative Epigenome Wide Association Study
(
- Contribution to journal › Article
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Mark
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
(
- Contribution to journal › Article
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Mark
Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity
(
- Contribution to journal › Article
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Mark
Liver saturated fat content associates with hepatic DNA methylation in obese individuals
(
- Contribution to journal › Article