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Author Details

Simone Feurstein
University Hospital Heidelberg
2010
22
13
PMIDPaper TitleJournal TitlePublished Year
36496180Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.Genet Med2023
37904876Germline and somatic drivers in inherited hematologic malignancies.Front Oncol2023
37091189Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.Front Oncol2023
35063349A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias.Genet Med2022
35764482Revision of RUNX1 variant curation rules.Blood Adv2022
36467828Concurrent light chain amyloidosis and proximal tubulopathy: Insights into different aggregation behavior-A case report.EJHaem2022
35969835Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.Blood2022
36266327Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.Leukemia2022
34100074Germline predisposition to hematopoietic malignancies.Hum Mol Genet2021
33850299Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.Leukemia2021
33510405Germline variants drive myelodysplastic syndrome in young adults.Leukemia2021
34387894GATA2 deficiency syndrome: A decade of discovery.Hum Mutat2021
32165484How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for <i>RUNX1</i> variant curation for germline predisposition to myeloid malignancies.Haematologica2020
33108454Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.Blood Adv2020
33351114Accurate germline RUNX1 variant interpretation and its clinical significance.Blood Adv2020
31648317ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.Blood Adv2019
29365323Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.Blood Adv2018
30347879Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion.Int J Mol Sci2018
28555414Germline ETV6 mutations and predisposition to hematological malignancies.Int J Hematol2017
27899193Genetic predisposition to leukemia and other hematologic malignancies.Semin Oncol2016
25213837Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype.BMC Genomics2014
20589934Clonal heterogeneity in childhood myelodysplastic syndromes--challenge for the detection of chromosomal imbalances by array-CGH.Genes Chromosomes Cancer2010
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Collaborators

Lucy A Godley
The University of Chicago
Co-authored papers 13
Gudrun G??hring
Hannover Medical School
Co-authored papers 3
Michael Heuser
Hannover Medical School
Co-authored papers 3
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Baylor College of Medicine
Co-authored papers 3
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Co-authored papers 3
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Co-authored papers 3
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Invitae Corporation
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Abbvie Inc., Genomics Research Center
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Charlotte M Niemeyer
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Shannon K McWeeney
Oregon Health & Science University, University of California Berkeley
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Panagiotis Baliakas
Uppsala University
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Kim E Nichols
St. Jude Children's Research Hospital
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Justyne E Ross
University of North Carolina at Chapel Hill
Co-authored papers 1
Nancy A Speck
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 1
Ying Wang
Johns Hopkins University School of Medicine
Co-authored papers 1
David M Thomas
Garvan Institute of Medical Research
Co-authored papers 1
Thomas LaFramboise
Co-authored papers 1
Tom Walsh
University of Washington
Co-authored papers 1
Release 1.2