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Author Details

Doris Steinemann
Hannover Medical School
1994
169
37
PMIDPaper TitleJournal TitlePublished Year
38031808Deciphering the molecular complexity of the IKZF1<sup>plus</sup> genomic profile using Optical Genome Mapping.Haematologica2024
37370779CAR-NK Cells Targeting HER1 (EGFR) Show Efficient Anti-Tumor Activity against Head and Neck Squamous Cell Carcinoma (HNSCC).Cancers (Basel)2023
37756525Germ line variant GFI1-36N affects DNA repair and sensitizes AML cells to DNA damage and repair therapy.Blood2023
37845283Recurrent DNMT3B rearrangements are associated with unfavorable outcome in dicentric (9;20)-positive pediatric BCP-ALL.Leukemia2023
37683606iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia.Cell Stem Cell2023
37081310Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.Am J Med Genet A2023
34460133Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing.Genes Chromosomes Cancer2022
35428972Donor-transmitted extramedullary acute myeloid leukaemia after living donor kidney transplantation.Br J Haematol2022
35565187Optical Genome Mapping as a Diagnostic Tool in Pediatric Acute Myeloid Leukemia.Cancers (Basel)2022
35486341Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains.J Clin Immunol2022
35875134Clonal Evolution at First Sight: A Combined Visualization of Diverse Diagnostic Methods Improves Understanding of Leukemic Progression.Front Oncol2022
36275728Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.Front Immunol2022
36258014Correction to: Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.Leukemia2022
33382535Chromosome 2q gain and epigenetic silencing of GATA3 in microglandular adenosis of the breast.J Pathol Clin Res2021
33486841Unbalanced translocation der(5;17) resulting in a TP53 loss as recurrent aberration in myelodysplastic syndrome and acute myeloid leukemia with complex karyotype.Genes Chromosomes Cancer2021
33512436Venetoclax and dexamethasone synergize with inotuzumab ozogamicin-induced DNA damage signaling in B-lineage ALL.Blood2021
33647814BCR-ABL1 positive AML or CML in blast crisis? A pediatric case report with inv(3) and t(9;22) in the initial clone.Cancer Genet2021
33894142iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia.Cell Stem Cell2021
33692461Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.Leukemia2021
33804706Genetic Correction of IL-10RB Deficiency Reconstitutes Anti-Inflammatory Regulation in iPSC-Derived Macrophages.J Pers Med2021
33580201Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome.Leukemia2021
34773059A selectable all-in-one CRISPR prime editing piggyBac transposon allows for highly efficient gene editing in human cell lines.Sci Rep2021
34503197The Clinical Utility of Optical Genome Mapping for the Assessment of Genomic Aberrations in Acute Lymphoblastic Leukemia.Cancers (Basel)2021
33197935SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic leukemia with diverse genetic presentation and variable outcome.Blood2021
31601692Relapses 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.Haematologica2020
33537535Forming megakaryocytes from murine-induced pluripotent stem cells by the inducible overexpression of supporting factors.Res Pract Thromb Haemost2020
31724318From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.Mol Genet Genomic Med2020
31837633Induced pluripotent stem cell line (PEIi003-A) derived from an apparently healthy male individual.Stem Cell Res2020
31723001Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness.Cancer Res2020
32051561Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.Gene Ther2020
32078009Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia.Ann Hematol2020
32098966The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.Nat Commun2020
32062129Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1).Stem Cell Res2020
32572153E-cadherin to P-cadherin switching in lobular breast cancer with tubular elements.Mod Pathol2020
32627184De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.Clin Genet2020
32592278Frequency and prognostic impact of PAX5 p.P80R in pediatric acute lymphoblastic leukemia patients treated on an AIEOP-BFM acute lymphoblastic leukemia protocol.Genes Chromosomes Cancer2020
30611016Generation of an induced pluripotent stem cell cohort suitable to investigate sporadic Alzheimer's Disease.Stem Cell Res2019
31698189Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A).Stem Cell Res2019
31213659Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.Br J Cancer2019
3104441916p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.Clin Genet2019
31062505Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.Am J Med Genet A2019
30755419Altered NFE2 activity predisposes to leukemic transformation and myelosarcoma with AML-specific aberrations.Blood2019
30426508The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.Int J Cancer2019
29097497<i>MDS1</i> and <i>EVI1</i> complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.Haematologica2018
30191368A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.Breast Cancer Res Treat2018
30089820A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.Eur J Hum Genet2018
30086788Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.Breast Cancer Res2018
29893455Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome.Pediatr Blood Cancer2018
2950161112q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.Eur J Med Genet2018
29446198Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.Hum Mutat2018
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Collaborators

Gudrun G??hring
Hannover Medical School
Co-authored papers 36
Charlotte M Niemeyer
Co-authored papers 15
Paolo Radice
Ospedale Circolo e Fondazione Macchi
Co-authored papers 15
Douglas F Easton
University of Cambridge
Co-authored papers 15
Fergus J Couch
Mayo Clinic
Co-authored papers 15
Irene L Andrulis
University of Toronto
Co-authored papers 15
Susan M Domchek
Co-authored papers 14
Thomas Illig
Co-authored papers 14
Georgia Chenevix-Trench
QIMR Berghofer Medical Research Institute
Co-authored papers 14
Katherine L Nathanson
Perelman School of Medicine, University of Pennsylvania, USA Abramson Cancer Center
Co-authored papers 14
David E Goldgar
University of Utah
Co-authored papers 14
Javier Ben??tez
Instituto de Salud Carlos III
Co-authored papers 13
Siranoush Manoukian
Fondazione IRCCS Istituto Nazionale dei Tumori
Co-authored papers 13
Ana Osorio
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre
Co-authored papers 13
Judy E Garber
Dana-Farber Cancer Institute
Co-authored papers 12
Jan Lubinski
Pomeranian Medical University
Co-authored papers 12
Beth Y Karlan
David Geffen School of Medicine, University of California los angeles
Co-authored papers 12
Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 11
Esther M John
Co-authored papers 11
Timothy R Rebbeck
Center for Cancer Equity and Engagement, Dana-Farber/Harvard Cancer Center
Co-authored papers 11
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 10
Mary Beth Terry
Co-authored papers 10
Robert L Nussbaum
Invitae Corporation
Co-authored papers 10
Jenny Lester
David Geffen School of Medicine, University of California at Los Angeles
Co-authored papers 10
Rosalind A Eeles
The Institute of Cancer Research
Co-authored papers 10
Claudine Isaacs
Co-authored papers 9
Christian P Kratz
Co-authored papers 9
Sue Healey
QIMR Berghofer Medical Research Institute
Co-authored papers 9
Noralane M Lindor
Mayo Clinic
Co-authored papers 8
Peter J Hulick
Neaman Center for Personalized Medicine, NorthShore University HealthSystem
Co-authored papers 8
Release 1.2