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D. Steinemann · SciRah

Researcher profile · Semantic Scholar

D. Steinemann

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D. Steinemann — researcher profile on SciRah

h-index: 43
Works: 208
Citations: 6,808

Most-cited papers

Identification of twelve new susceptibility loci for different histotypes of epithelial ovarian cancer
C. Phelan, Karoline B. Kuchenbaecker, J. Tyrer, S. Kar +410 more
2017Nature Genetics399 citations Open access
Semantic Scholar
Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations
T. Rebbeck, T. Friebel, E. Friedman, U. Hamann +238 more
2018Human Mutation299 citations Open access
Semantic Scholar
Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
T. Ripperger, S. Bielack, A. Borkhardt, I. Brecht +72 more
2017American Journal of Medical Genetics. Part A247 citations Open access
Semantic Scholar
Direct Reprogramming of Hepatic Myofibroblasts into Hepatocytes In Vivo Attenuates Liver Fibrosis.
G. Song, M. Pacher, A. Balakrishnan, Q. Yuan +16 more
2016Cell Stem Cell201 citations Open access
Semantic Scholar
IKZF1plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia.
M. Stanulla, E. Dağdan, M. Zaliova, A. Möricke +34 more
2018Journal of Clinical Oncology187 citations Open access
Semantic Scholar
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
J. Lecarpentier, Valentina Silvestri, Karoline B. Kuchenbaecker, D. Barrowdale +173 more
2017Journal of Clinical Oncology168 citations Open access
Semantic Scholar
Lobular breast cancer: Clinical, molecular and morphological characteristics.
M. Christgen, D. Steinemann, E. Kuhnle, F. Länger +3 more
2016Pathology, Research and Practice145 citations
Semantic Scholar
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
D. Barnes, M. Rookus, L. McGuffog, Goska Leslie +190 more
2020Genetics in Medicine116 citations Open access
Semantic Scholar
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Manuel A. R. Ferreira, E. Gamazon, F. Al-Ejeh, K. Aittomäki +308 more
2019Nature Communications116 citations Open access
Semantic Scholar
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
F. Couch, Karoline B. Kuchenbaecker, K. Michailidou, Gustavo A. Mendoza-Fandino +245 more
2016Nature Communications112 citations Open access
Semantic Scholar
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
Valentina Silvestri, D. Barrowdale, A. Mulligan, S. Neuhausen +142 more
2016Breast Cancer Research111 citations Open access
Semantic Scholar
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
M. de la Hoya, O. Soukarieh, Irene López-Perolio, A. Vega +71 more
2016Human Molecular Genetics94 citations Open access
Semantic Scholar
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
A. Rio-Machin, T. Vulliamy, N. Hug, A. Walne +54 more
2020Nature Communications91 citations Open access
Semantic Scholar
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
C. Phelan, K. Kuchenbaecker, J. Tyrer, S. Kar +410 more
2017Nature Genetics62 citations Open access
Semantic Scholar
On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer
J. Penkert, T. Ripperger, M. Schieck, B. Schlegelberger +2 more
2016OncoTarget60 citations Open access
Semantic Scholar
The Clinical Utility of Optical Genome Mapping for the Assessment of Genomic Aberrations in Acute Lymphoblastic Leukemia
J. Lühmann, Marie Stelter, M. Wolter, J. Kater +11 more
2021Cancers56 citations Open access
Semantic Scholar
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants
Stephanie A. Schubert, Jana L. Luttikhuizen, B. Auber, G. Schmidt +14 more
2019International Journal of Cancer55 citations Open access
Semantic Scholar
MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies
T. Ripperger, W. Hofmann, J. Koch, K. Shirneshan +10 more
2017Haematologica52 citations Open access
Semantic Scholar
Myb‐like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress‐associated bone marrow failure and developmental aberrations
E. Bahrami, Maximilian Witzel, T. Racek, Jaçek Puchalka +13 more
2017Journal of Allergy and Clinical Immunology50 citations
Semantic Scholar
Relapses and treatment-related events contributed equally to poor prognosis in children with ABL-class fusion positive B-cell acute lymphoblastic leukemia treated according to AIEOP-BFM protocols
G. Cario, V. Leoni, V. Conter, A. Attarbaschi +31 more
2019Haematologica47 citations Open access
Semantic Scholar
E-cadherin to P-cadherin switching in lobular breast cancer with tubular elements
M. Christgen, S. Bartels, Jana L. van Luttikhuizen, Janin Bublitz +8 more
2020Modern Pathology46 citations Open access
Semantic Scholar
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
I. Blanco, Karoline B. Kuchenbaecker, D. Cuadras, Xian-Shu Wang +190 more
2015PLoS ONE42 citations Open access
Semantic Scholar
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Chen-Jie Zeng, Xing-Yi Guo, J. Long, Karoline B. Kuchenbaecker +233 more
2016Breast Cancer Research41 citations Open access
Semantic Scholar
Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia
M. Schieck, J. Lentes, K. Thomay, W. Hofmann +16 more
2020Annals of Hematology40 citations Open access
Semantic Scholar
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)
Christina T. Thiesler, Samanta Cajic, D. Hoffmann, C. Thiel +15 more
2016Molecular & Cellular Proteomics40 citations Open access
Semantic Scholar
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome
G. Winter, R. Kirschner-Schwabe, Stefanie Groeneveld-Krentz, G. Escherich +15 more
2021Leukemia35 citations Open access
Semantic Scholar
Altered NFE2 activity predisposes to leukemic transformation and myelosarcoma with AML-specific aberrations.
J. S. Jutzi, T. Basu, Maximilian Pellmann, Sandra Kaiser +15 more
2019Blood34 citations Open access
Semantic Scholar
CDKN2A loss and PIK3CA mutation in myoepithelial‐like metaplastic breast cancer
S. Bartels, Jana Lisa van Luttikhuizen, M. Christgen, Lavinia Mägel +7 more
2018Journal of Pathology33 citations
Semantic Scholar
Subclonal analysis in a lobular breast cancer with classical and solid growth pattern mimicking a solid‐papillary carcinoma
M. Christgen, S. Bartels, Jana Lisa van Luttikhuizen, M. Schieck +9 more
2017The Journal of Pathology: Clinical Research33 citations Open access
Semantic Scholar
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
S. Blein, C. Bardel, Vincent Danjean, L. McGuffog +202 more
2015Breast Cancer Research33 citations Open access
Semantic Scholar
Optical Genome Mapping as a Diagnostic Tool in Pediatric Acute Myeloid Leukemia
J. Suttorp, J. Lühmann, Y. Behrens, G. Göhring +4 more
2022Cancers32 citations Open access
Semantic Scholar
A selectable all-in-one CRISPR prime editing piggyBac transposon allows for highly efficient gene editing in human cell lines
R. Eggenschwiler, Thomas Gschwendtberger, Christian Felski, Christopher Jahn +9 more
2021Scientific Reports30 citations Open access
Semantic Scholar
Venetoclax and dexamethasone synergize with inotuzumab-ozogamicin induced DNA damage signaling in B-lineage ALL.
Hanna Kirchhoff, Uemran Karsli, C. Schoenherr, K. Battmer +9 more
2020Blood28 citations Open access
Semantic Scholar
Improved bi-allelic modification of a transcriptionally silent locus in patient-derived iPSC by Cas9 nickase
R. Eggenschwiler, M. Moslem, M. S. Fráguas, Melanie Galla +15 more
2016Scientific Reports28 citations Open access
Semantic Scholar
16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome
K. Kloth, S. Renner, G. Burmester, D. Steinemann +6 more
2019Clinical Genetics25 citations
Semantic Scholar
iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia.
B. Dannenmann, M. Klimiankou, B. Oswald, A. Solovyeva +20 more
2021Cell Stem Cell24 citations Open access
Semantic Scholar
Frequency and prognostic impact of PAX5 p.P80R in pediatric acute lymphoblastic leukemia patients treated on an AIEOP‐BFM acute lymphoblastic leukemia protocol
Mareike Jung, M. Schieck, W. Hofmann, Marcel Tauscher +11 more
2020Genes, Chromosomes and Cancer23 citations Open access
Semantic Scholar
CAR-NK Cells Targeting HER1 (EGFR) Show Efficient Anti-Tumor Activity against Head and Neck Squamous Cell Carcinoma (HNSCC)
Juliette Nowak, Marco Bentele, I. Kutle, Katharina Zimmermann +13 more
2023Cancers21 citations Open access
Semantic Scholar
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases
Rensheng Wan, Johannes Fänder, Ia Zakaraia, Ae Lee-Kirsch Min +19 more
2022Frontiers in Immunology21 citations Open access
Semantic Scholar
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
C. Hakkaart, J. Pearson, L. Marquart, J. Dennis +157 more
2022Communications Biology18 citations Open access
Semantic Scholar
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency
L. van Diepen, Falk F. R. Buettner, D. Hoffmann, Christina T. Thiesler +9 more
2018European Journal of Human Genetics18 citations Open access
Semantic Scholar
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies
M. Decker, T. Lammens, A. Ferster, M. Erlacher +10 more
2021Leukemia17 citations Open access
Semantic Scholar
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
F. Qian, M. Rookus, Goska Leslie, H. Risch +134 more
2019British Journal of Cancer17 citations Open access
Semantic Scholar
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
J. Penkert, G. Schmidt, W. Hofmann, Stephanie A. Schubert +11 more
2018Breast Cancer Research17 citations Open access
Semantic Scholar
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains
Rensheng Wan, M. Schieck, Andrés Caballero-Oteyza, W. Hofmann +10 more
2022Journal of Clinical Immunology16 citations Open access
Semantic Scholar
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
M. Parsons, Emma Tudini, Hong-Yan Li, E. Hahnen +217 more
2019Human Mutation15 citations Open access
Semantic Scholar
A tandem duplication of BRCA1 exons 1–19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome
Chen Du, D. Mark, B. Wappenschmidt, B. Böckmann +11 more
2018Breast Cancer Research and Treatment15 citations
Semantic Scholar
NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?
C. Scholz, D. Steinemann, M. Mälzer, Mandy Roy +4 more
2016European Journal of Medical Genetics15 citations
Semantic Scholar
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia‐oculomotor apraxia 4 and pilocytic astrocytoma
C. Scholz, M. Golas, R. G. Weber, C. Hartmann +9 more
2018Clinical Genetics14 citations
Semantic Scholar
Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A
M. Golas, B. Auber, T. Ripperger, B. Pabst +6 more
2019American Journal of Medical Genetics. Part A12 citations
Semantic Scholar

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