Marc‐Henri Stern
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View article: Genetic Background Predicts Uveal Melanoma Patients’ Outcomes
Genetic Background Predicts Uveal Melanoma Patients’ Outcomes Open
Objective: Single nucleotide polymorphisms (SNPs) in IRF4 and HERC2 are associated with risk for disomy or monosomy of chromosome 3 (D3 or M3) uveal melanoma (UM), respectively. The aim of this study was to assess the association between g…
View article: AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia
AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia Open
Familial dysautonomia (FD) is a rare autosomal recessive neurodegenerative disorder caused by a splicing mutation in the ELP1 gene. It predominantly affects the sensory and autonomic nervous systems, with progressive vision loss due to opt…
View article: Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity
Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity Open
Uveal melanoma (UM) is a rare but frequently metastasizing cancer. Genome-wide association studies have identified three common genome-wide significant germline risk loci. Here, we perform a genome-wide association study on 401 new cases a…
View article: Safety and Potential Radiosensitizing Effect of Olaparib in Combination With Breast Radiation Therapy for Patients With Triple-Negative Breast Cancer With Residual Disease: Long-Term Results From the RADIOPARP Phase 1 Trial
Safety and Potential Radiosensitizing Effect of Olaparib in Combination With Breast Radiation Therapy for Patients With Triple-Negative Breast Cancer With Residual Disease: Long-Term Results From the RADIOPARP Phase 1 Trial Open
The RADIOPARP trial demonstrates the long-term safety of combining olaparib with radiation therapy and suggests its potential to enhance locoregional control in HRD tumors. Further studies are warranted to confirm these findings and refine…
View article: Supplementary Figure S7 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S7 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S7. Extraction of L1PA DNA hypomethylation signal from whole genome data
View article: Supplementary Figure S5 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S5 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S5. Comparison of tumor and plasma paired samples
View article: Supplementary Tables S1-S22 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Tables S1-S22 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Table S1. Targeted bisulfite sequencing primers Table S2. Target copies and CpG sites relative to the number of sequencing reads Table S3. Statistical results of global methylation differences between healthy samples and cancer subgroups u…
View article: Supplementary Figure S6 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S6 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S6. Classifier performances: feature types, calculation parameters, cancer subtypes and stages
View article: Supplementary Figure S7 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S7 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S7. Extraction of L1PA DNA hypomethylation signal from whole genome data
View article: Supplementary Figure S2 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S2 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S2. Methylation profiles obtained with bisulfite or enzymatic conversion are similar
View article: Supplementary Figure S6 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S6 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S6. Classifier performances: feature types, calculation parameters, cancer subtypes and stages
View article: Supplementary Figure S11 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S11 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S11. 2 step-models integrating CNA signal extracted from DIAMOND data
View article: Supplementary Figure S8 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S8 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S8. DIAMOND profiles and performances in the validation versus discovery cohorts
View article: Supplementary Figure S8 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S8 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S8. DIAMOND profiles and performances in the validation versus discovery cohorts
View article: Supplementary Tables S1-S22 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Tables S1-S22 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Table S1. Targeted bisulfite sequencing primers Table S2. Target copies and CpG sites relative to the number of sequencing reads Table S3. Statistical results of global methylation differences between healthy samples and cancer subgroups u…
View article: Supplementary Figure S9 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S9 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S9. Age has a minor effect on L1PA DNA methylation patterns and is not a confounding factor in this study
View article: Supplementary Figure S3 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S3 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S3. Preparation of L1PA targeted bisulfite sequencing libraries and analysis workflow
View article: Supplementary Figure S4 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S4 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S4. DIAMOND features: CpG calling and contribution of CG positions or haplotypes
View article: Supplementary Figure S3 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S3 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S3. Preparation of L1PA targeted bisulfite sequencing libraries and analysis workflow
View article: Data from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Data from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Purpose:The detection of ctDNA, which allows noninvasive tumor molecular profiling and disease follow-up, promises optimal and individualized management of patients with cancer. However, detecting small fractions of tumor DNA released when…
View article: Supplementary Figure S5 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S5 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S5. Comparison of tumor and plasma paired samples
View article: Supplementary Figure S2 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S2 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S2. Methylation profiles obtained with bisulfite or enzymatic conversion are similar
View article: Supplementary Figure S11 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S11 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S11. 2 step-models integrating CNA signal extracted from DIAMOND data
View article: Supplementary Figure S1 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S1 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S1. cfDNA extraction methods did not impact the L1PA methylation patterns
View article: Supplementary Figure S4 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S4 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S4. DIAMOND features: CpG calling and contribution of CG positions or haplotypes
View article: Supplementary Figure S10 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S10 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S10. Comparison of multiple classifiers (expert, all, stack and blind models) and prognostic value of L1PA hypomethylation
View article: Supplementary Figure S9 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons
Supplementary Figure S9 from Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons Open
Fig S9. Age has a minor effect on L1PA DNA methylation patterns and is not a confounding factor in this study
View article: <scp> <i>SMARCB1</i> </scp> ‐deficient malignant melanocytic uveal tumours: a new neural crest‐derived tumour entity with <scp> <i>SMARCB1</i> </scp> ‐related germline predisposition
<span> <i>SMARCB1</i> </span> ‐deficient malignant melanocytic uveal tumours: a new neural crest‐derived tumour entity with <span> <i>SMARCB1</i> </span> ‐related germline predisposition Open
Rhabdoid tumours (RT) are an aggressive malignancy affecting <2‐year‐old infants, characterised by biallelic loss‐of‐function alterations in SWI/SNF‐related BAF chromatin remodelling complex subunit B1 ( SMARCB1 ) in nearly all cases. Germ…