[HTML][HTML] Subclone-specific microenvironmental impact and drug response in refractory multiple myeloma revealed by single‐cell transcriptomics
…, MHS Awwad, N Giesen, N Casiraghi, H Susak… - Nature …, 2021 - nature.com
Virtually all patients with multiple myeloma become unresponsive to treatment over time.
Relapsed/refractory multiple myeloma (RRMM) is accompanied by the clonal evolution of …
Relapsed/refractory multiple myeloma (RRMM) is accompanied by the clonal evolution of …
Analysis of a long-term outbreak of XDR Pseudomonas aeruginosa: a molecular epidemiological study
Objectives Here we report on a long-term outbreak from 2009 to 2012 with an XDR
Pseudomonas aeruginosa on two wards at a university hospital in southern Germany. Methods …
Pseudomonas aeruginosa on two wards at a university hospital in southern Germany. Methods …
[HTML][HTML] Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes
L Zapata, H Susak, O Drechsel, MR Friedländer… - Scientific Reports, 2017 - nature.com
Tumors are composed of an evolving population of cells subjected to tissue-specific
selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene …
selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene …
[HTML][HTML] Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
…, K Grundman-Hauser, P Bauer, S Ossowski, H Susak… - BMC cancer, 2019 - Springer
Background Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes
of hereditary breast and ovarian cancer (HBOC). The risk of developing breast cancer by …
of hereditary breast and ovarian cancer (HBOC). The risk of developing breast cancer by …
Allele balance bias identifies systematic genotyping errors and false disease associations
F Muyas, M Bosio, A Puig, H Susak… - Human …, 2019 - Wiley Online Library
In recent years, next‐generation sequencing (NGS) has become a cornerstone of clinical
genetics and diagnostics. Many clinical applications require high precision, especially if rare …
genetics and diagnostics. Many clinical applications require high precision, especially if rare …
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
…, T Shmaya, N Sidiropoulos, L Song, H Susak… - BioRxiv, 2017 - biorxiv.org
Cancers develop through somatic mutagenesis, however germline genetic variation can
markedly contribute to tumorigenesis via diverse mechanisms. We discovered and phased 88 …
markedly contribute to tumorigenesis via diverse mechanisms. We discovered and phased 88 …
Single cell multi-omics analysis of chromothriptic medulloblastoma highlights genomic and transcriptomic consequences of genome instability
RG Parra, MJ Przybilla, M Simovic, H Susak… - bioRxiv, 2021 - biorxiv.org
Chromothripsis is a form of genome instability, whereby a presumably single catastrophic
event generates extensive genomic rearrangements of one or few chromosome(s). However, …
event generates extensive genomic rearrangements of one or few chromosome(s). However, …
[HTML][HTML] Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
H Susak, L Serra-Saurina, G Demidov… - PLOS Computational …, 2021 - journals.plos.org
Rare variants are thought to play an important role in the etiology of complex diseases and
may explain a significant fraction of the missing heritability in genetic disease studies. Next-…
may explain a significant fraction of the missing heritability in genetic disease studies. Next-…
P-060: Subclone-specific microenvironmental impact and drug response in refractory multiple myeloma revealed by single cell transcriptomics
…, M Awwad, N Giesen, N Casiraghi, H Susak… - … Myeloma and Leukemia, 2021 - Elsevier
Background Relapsed/refractory multiple myeloma (RRMM) is characterized by a high inter-
and intratumor heterogeneity and a complex interplay of myeloma cells with the bone …
and intratumor heterogeneity and a complex interplay of myeloma cells with the bone …
Bayesian inference of cancer driver genes using signatures of positive selection
L Zapata, H Susak, O Drechsel, MR Friedländer… - bioRxiv, 2017 - biorxiv.org
Tumors are composed of an evolving population of cells subjected to tissue-specific
selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene …
selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene …