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- 2020
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Mark
Genetic predisposition for multiple myeloma
(
- Contribution to journal › Scientific review
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Mark
Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene
(
- Contribution to journal › Article
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Mark
Farewell message from the Editor-in-Chief of Genes, Chromosomes & Cancer
(
- Contribution to journal › Debate/Note/Editorial
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Mark
NTRK fusions in osteosarcoma are rare and non-functional events
(
- Contribution to journal › Article
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Mark
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
(
- Contribution to journal › Article
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Mark
Human Physiology of Genetic Defects Causing Beta-cell Dysfunction
(
- Contribution to journal › Scientific review
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Mark
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
(
- Contribution to journal › Article
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Mark
Clonal competition within complex evolutionary hierarchies shapes AML over time
(
- Contribution to journal › Article
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Mark
PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells
(
- Contribution to journal › Article
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Mark
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
(
- Contribution to journal › Article
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Mark
Two Prevalent ∼100-kb GYPB Deletions Causative of the GPB-Deficient Blood Group MNS Phenotype S-s-U-in Black Africans
(
- Contribution to journal › Article
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Mark
Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma
(
- Contribution to journal › Article
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Mark
The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men : The MrOS Sweden Study
(
- Contribution to journal › Article
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Mark
Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
(
- Contribution to journal › Article
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Mark
Search for multiple myeloma risk factors using Mendelian randomization
(
- Contribution to journal › Article
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Mark
Parental origin of monosomic chromosomes in near-haploid acute lymphoblastic leukemia
(
- Contribution to journal › Letter
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Mark
Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity : A multi-center study
(
- Contribution to journal › Article
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Mark
The effect of LRRK2 loss-of-function variants in humans
(
- Contribution to journal › Article
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Mark
Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for acute lymphoblastic leukemia and lymphoma in caucasian children
(
- Contribution to journal › Article
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Mark
Identify New Genetic Variants on Chromosome 6 Associated with Mortality after Heart Transplantation
2020) In The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 39(4). p.473-473(
- Contribution to journal › Published meeting abstract
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Mark
Epigenetic regulation of insulin action and secretion – role in the pathogenesis of type 2 diabetes
(
- Contribution to journal › Scientific review
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Mark
Subclonal patterns in follow-up of acute myeloid leukemia combining whole exome sequencing and ultrasensitive IBSAFE digital droplet analysis
(
- Contribution to journal › Article
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Mark
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
(
- Contribution to journal › Article
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Mark
Evaluating drug targets through human loss-of-function genetic variation
(
- Contribution to journal › Article
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Mark
Transcript expression-aware annotation improves rare variant interpretation
(
- Contribution to journal › Article
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Mark
A structural variation reference for medical and population genetics
(
- Contribution to journal › Article
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Mark
The mutational constraint spectrum quantified from variation in 141,456 humans
(
- Contribution to journal › Article
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Mark
Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells
(
- Contribution to journal › Article
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Mark
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
(
- Contribution to journal › Article
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Mark
Frequent false-negative FIP1L1-PDGFRA FISH analyses of bone marrow samples from clonal eosinophilia at diagnosis
(
- Contribution to journal › Letter
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Mark
Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma
(
- Contribution to journal › Article
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Mark
Epistatic effect of TLR3 and cGAS-STING-IKKε-TBK1-IFN signaling variants on colorectal cancer risk
(
- Contribution to journal › Article
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Mark
Transcriptome-wide association study reveals candidate causal genes for lung cancer
(
- Contribution to journal › Article
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Mark
Deep sequencing of myxoinflammatory fibroblastic sarcoma
(
- Contribution to journal › Article
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Mark
Genomic and transcriptomic features of dermatofibrosarcoma protuberans : Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development
(
- Contribution to journal › Article
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Mark
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
(
- Contribution to journal › Article
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Mark
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(
- Contribution to journal › Article
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Mark
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
(
- Contribution to journal › Article
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Mark
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents
(
- Contribution to journal › Article
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Mark
A seventeenth-century Mycobacterium tuberculosis genome supports a Neolithic emergence of the Mycobacterium tuberculosis complex
(
- Contribution to journal › Article
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Mark
Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
(
- Contribution to journal › Article
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Mark
Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis
(
- Contribution to journal › Article
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Mark
Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung Cancer Cases and 15,971 Controls
2020) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 29(7). p.1423-1429(
- Contribution to journal › Article
-
Mark
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
(
- Contribution to journal › Article
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Mark
Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB
(
- Contribution to journal › Article
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Mark
Familial risks between Graves disease and Hashimoto thyroiditis and other autoimmune diseases in the population of Sweden
(
- Contribution to journal › Article
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Mark
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
(
- Contribution to journal › Article
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Mark
Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment
(
- Contribution to journal › Article
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Mark
The CCND1 c.870G risk allele is enriched in individuals of African ancestry with plasma cell dyscrasias
(
- Contribution to journal › Letter
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Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
(
- Contribution to journal › Article
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Mark
BMD-Related Genetic Risk Scores Predict Site-Specific Fractures as Well as Trabecular and Cortical Bone Microstructure
(
- Contribution to journal › Article
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Mark
Hydroxysteroid 17-β dehydrogenase 13 variant increases phospholipids and protects against fibrosis in nonalcoholic fatty liver disease
(
- Contribution to journal › Article
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Mark
Loci associated with genomic damage levels in chronic kidney disease patients and controls
(
- Contribution to journal › Article
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article
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Mark
Global RNA expression and DNA methylation patterns in primary anaplastic thyroid cancer
(
- Contribution to journal › Article
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Mark
Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant
(
- Contribution to journal › Article
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Mark
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
(
- Contribution to journal › Article
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Mark
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
(
- Contribution to journal › Article
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Mark
New generation genetic testing entering the clinic
(
- Contribution to journal › Article
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Mark
An integrative phenotype–genotype approach using phenotypic characteristics from the UAE national diabetes study identifies HSD17B12 as a candidate gene for obesity and type 2 diabetes
(
- Contribution to journal › Article
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Mark
13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking
(
- Contribution to journal › Article
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Mark
The Xg blood group system : no longer forgotten
(
- Contribution to journal › Letter
-
Mark
May the FORS be with you : a system sequel
(
- Contribution to journal › Scientific review
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Mark
Association between the rs1544410 polymorphism in the vitamin D receptor (VDR) gene and insulin secretion after gestational diabetes mellitus
(
- Contribution to journal › Article
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Mark
Protein-altering germline mutations implicate novel genes related to lung cancer development
(
- Contribution to journal › Article
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Mark
A new efficient method to detect genetic interactions for lung cancer GWAS
(
- Contribution to journal › Article
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Mark
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
(
- Contribution to journal › Article
-
Mark
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
(
- Contribution to journal › Article
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Mark
Targeting OGG1 arrests cancer cell proliferation by inducing replication stress
2020) In Nucleic Acids Research(
- Contribution to journal › Article
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Mark
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium
2020)(
- Working paper/Preprint › Preprint in preprint archive
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Mark
The Mutational Landscape of the SCAN-B Real-World Primary Breast Cancer Transcriptome
2020)(
- Working paper/Preprint › Preprint in preprint archive
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Mark
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
2020)(
- Working paper/Preprint › Preprint in preprint archive
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Mark
Distribution of HLA-DQ risk genotypes for celiac disease in Ethiopian children
(
- Contribution to journal › Article
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Mark
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline
(
- Contribution to journal › Article
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Mark
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
(
- Contribution to journal › Article
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Mark
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
(
- Contribution to journal › Article
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Mark
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
(
- Contribution to journal › Article
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Mark
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
(
- Contribution to journal › Article
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Mark
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
(
- Contribution to journal › Article
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Mark
Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD
(
- Contribution to journal › Scientific review
-
Mark
Dyslexia Candidate Gene and Ciliary Gene Expression Dynamics During Human Neuronal Differentiation
(
- Contribution to journal › Article
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Mark
p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids
(
- Contribution to journal › Article
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Mark
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
(
- Contribution to journal › Article
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Mark
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
(
- Contribution to journal › Article
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Mark
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
(
- Contribution to journal › Article
-
Mark
A novel function for CDK2 activity at meiotic crossover sites
(
- Contribution to journal › Article
-
Mark
Genomic and Transcriptomic Analyses of Osteogenic Tumours of Bone
2020) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
(
- Contribution to journal › Article
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Mark
CRISPR-terapi visar potential – möjligheter och utmaningar
(
- Contribution to journal › Article
-
Mark
Public support for healthcare-mediated disclosure of hereditary cancer risk information : Results from a population-based survey in Sweden
(
- Contribution to journal › Article
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Mark
Diagnostic potential of circulating cell-free nuclear and mitochondrial DNA for several cancer types and nonmalignant diseases : A study on suspected cancer patients
(
- Contribution to journal › Article
-
Mark
Blood pressure and bladder cancer risk in men by use of survival analysis and in interaction with NAT2 genotype, and by Mendelian randomization analysis
(
- Contribution to journal › Article
-
Mark
Blood-based epigenetic estimators of chronological age in human adults using DNA methylation data from the Illumina MethylationEPIC array
(
- Contribution to journal › Article
-
Mark
A high-stringency blueprint of the human proteome
(
- Contribution to journal › Scientific review
-
Mark
Epigenetic changes in islets of langerhans preceding the onset of diabetes
(
- Contribution to journal › Article
-
Mark
Robustness and lethality in multilayer biological molecular networks
(
- Contribution to journal › Article
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Mark
Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
(
- Contribution to journal › Article
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Mark
Transparency, consent and trust in the use of customers' data by an online genetic testing company : an Exploratory survey among 23andMe users
(
- Contribution to journal › Article
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Mark
Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data
(
- Contribution to journal › Article
-
Mark
Familial associations for rheumatoid autoimmune diseases
(
- Contribution to journal › Article