Publications by authors named "Simone Feurstein"

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Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Jiarna R Zerella, Claire C Homan, Peer Arts, Xuzhu Lin, Sam J Spinelli, Simone Feurstein

Blood· October 2024

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Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
Amy M Trottier, Simone Feurstein, Lucy A Godley

Best Pract Res Clin Haematol· March 2024

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Germline and somatic drivers in inherited hematologic malignancies.
Julian Zoller, Despina Trajanova, Simone Feurstein

Front Oncol· October 2023

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Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Simone Feurstein

Front Oncol· April 2023

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Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.
Niles Nelson, Simone Feurstein, Aram Niaz, Jia Truong, Jessica K Holien

Genet Med· March 2023

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Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.
Simone Feurstein, Amy M Trottier, Noel Estrada-Merly, Matthew Pozsgai, Kelsey McNeely

Blood· December 2022

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Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.
Yasuo Kubota, Misam Zawit, Jibran Durrani, Wenyi Shen, Waled Bahaj, Simone Feurstein

Leukemia· December 2022

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Concurrent light chain amyloidosis and proximal tubulopathy: Insights into different aggregation behavior-A case report.
Simone Feurstein, Julian Zoller, Constantin Schwab, Sarah Schreiner, Heiko Mundt

EJHaem· November 2022

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Revision of RUNX1 variant curation rules.
Simone Feurstein, Xi Luo, Mancy Shah, Taylor Walker, Nikita Mehta

Blood Adv· August 2022

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A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias.
Simone Feurstein, Christopher N Hahn, Nikita Mehta, Lucy A Godley

Genet Med· April 2022

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Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Deepak Singhal, Christopher N Hahn, Simone Feurstein, Li Yan A Wee, Luke Moma

Leukemia· November 2021

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GATA2 deficiency syndrome: A decade of discovery.
Claire C Homan, Parvathy Venugopal, Peer Arts, Nur H Shahrin, Simone Feurstein

Hum Mutat· November 2021

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Germline predisposition to hematopoietic malignancies.
Simone Feurstein, Michael Drazer, Lucy A Godley

Hum Mol Genet· October 2021

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Germline variants drive myelodysplastic syndrome in young adults.
Simone Feurstein, Jane E Churpek, Tom Walsh, Sioban Keel, Marja Hakkarainen

Leukemia· August 2021

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Accurate germline RUNX1 variant interpretation and its clinical significance.
Simone Feurstein, Liying Zhang, Courtney D DiNardo

Blood Adv· December 2020

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Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Simone Feurstein, Ayodeji Adegunsoye, Danijela Mojsilovic, Rekha Vij, Allison H West DePersia

Blood Adv· October 2020

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Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Amy M Trottier, Lawrence J Druhan, Ira L Kraft, Amanda Lance, Simone Feurstein

Blood Adv· October 2020

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How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for variant curation for germline predisposition to myeloid malignancies.
David Wu, Xi Luo, Simone Feurstein, Chimene Kesserwan, Shruthi Mohan

Haematologica· April 2020

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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C Porter, Sarah A Jackson

Blood Adv· October 2019

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Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion.
Simone Feurstein, Kathrin Thomay, Winfried Hofmann, Guntram Buesche, Hans Kreipe

Int J Mol Sci· October 2018

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Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.
Michael W Drazer, Sabah Kadri, Madina Sukhanova, Sushant A Patil, Allison H West, Simone Feurstein

Blood Adv· January 2018

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Germline ETV6 mutations and predisposition to hematological malignancies.
Simone Feurstein, Lucy A Godley

Int J Hematol· August 2017

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Genetic predisposition to leukemia and other hematologic malignancies.
Simone Feurstein, Michael W Drazer, Lucy A Godley

Semin Oncol· October 2016

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Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype.
Simone Feurstein, Frank G Rücker, Lars Bullinger, Winfried Hofmann, Georgi Manukjan

BMC Genomics· September 2014

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Clonal heterogeneity in childhood myelodysplastic syndromes--challenge for the detection of chromosomal imbalances by array-CGH.
Inka Praulich, Marcel Tauscher, Gudrun Göhring, Stefanie Glaser, Winfried Hofmann, Simone Feurstein

Genes Chromosomes Cancer· October 2010

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