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- 2023
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Mark
Genetic variants associated with weight loss and metabolic outcomes after bariatric surgery : A systematic review
(
- Contribution to journal › Scientific review
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Mark
Contribution of rare genetic variants to heart failure and cardiomyopathy in the UK Biobank
(
- Contribution to journal › Letter
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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)
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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
A novel scatterplot-based method to detect copy number variation (CNV)
(
- Contribution to journal › Article
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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
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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
Fast and sensitive validation of fusion transcripts in whole-genome sequencing data
(
- Contribution to journal › Article
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Mark
Causality assessment of circulating Vitamin D level on venous thromboembolism : A Mendelian randomization study
(
- 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
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Mark
Transcription factor networks link B-lymphocyte development and malignant transformation in leukemia
(
- Contribution to journal › Scientific review
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Mark
The molecular genetic landscape of human brain size variation
(
- 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
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
(
- Contribution to journal › Article
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Mark
BRCA1 frameshift variants leading to extended incorrect protein C termini
(
- Contribution to journal › Article