Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Simone, Feurstein"'
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Inherited hematologic malignancies are linked to a heterogenous group of genes, knowledge of which is rapidly expanding using panel-based next-generation sequencing (NGS) or whole-exome/whole-genome sequencing. Importantly, the penetrance for these s
Externí odkaz:
https://doaj.org/article/e9cac98260e14b27ac9dffd4d5d77bef
Autor:
Simone Feurstein, Julian Zoller, Constantin Schwab, Sarah Schreiner, Heiko Mundt, Iris Breitkreutz, Brigitte Schneider, Jörg Beimler, Martin Zeier, Rüdiger Waldherr, Stefan Gröschel, Carsten Müller‐Tidow, Stefan O. Schönland, Ute Hegenbart
Publikováno v:
eJHaem, Vol 3, Iss 4, Pp 1377-1380 (2022)
Abstract Due to differences in the protein folding mechanisms, it is exceedingly rare for amyloid light chain (AL) amyloidosis and monoclonal gammopathy of renal significance (MGRS) to coexist. We herein report the first case of concurrent AL amyloid
Externí odkaz:
https://doaj.org/article/762da7cf1a1d491ba281f9f797e23edf
Autor:
Simone Feurstein
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Inherited bone marrow failure (BMF) syndromes are genetically diverse — more than 100 genes have been associated with those syndromes and the list is rapidly expanding. Risk assessment and genetic counseling of patients with recently discovered BMF
Externí odkaz:
https://doaj.org/article/956e7aff55dd44429e2bc474810203d9
Autor:
Shruthi Mohan, Eran Tallis, Taylor Walker, Sioban Keel, Marcin Wlodarski, Amy Hsu, Katherine Calvo, Simone Feurstein, Panagiotis Baliakas, Xi Luo, Guimin Gao, David Wu, Lucy Godley
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100055- (2023)
Externí odkaz:
https://doaj.org/article/7cfbbb239d5c4f12aa716750516882dc
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Autor:
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley
Publikováno v:
Blood Advances, Vol 3, Iss 20, Pp 2962-2979 (2019)
Abstract: Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are developing disease-associated gene specifications usin
Externí odkaz:
https://doaj.org/article/147cccd407e042c69af7b468c729162f
Autor:
David Wu, Xi Luo, Simone Feurstein, Chimene Kesserwan, Shruthi Mohan, Daniel E. Pineda-Alvarez, Lucy A. Godley, on behalf of the collaborative group of the American Society of Hematology - Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel
Publikováno v:
Haematologica, Vol 105, Iss 4 (2020)
The broad use of next-generation sequencing and microarray platforms in research and clinical laboratories has led to an increasing appreciation of the role of germline mutations in genes involved in hematopoiesis and lineage differentiation that con
Externí odkaz:
https://doaj.org/article/db5f643664714946a3861fe77c9cbbe5
Autor:
Michael W. Drazer, Sabah Kadri, Madina Sukhanova, Sushant A. Patil, Allison H. West, Simone Feurstein, Dalein A. Calderon, Matthew F. Jones, Caroline M. Weipert, Christopher K. Daugherty, Adrián A. Ceballos-López, Gordana Raca, Mark W. Lingen, Zejuan Li, Jeremy P. Segal, Jane E. Churpek, Lucy A. Godley
Publikováno v:
Blood Advances, Vol 2, Iss 2, Pp 146-150 (2018)
Abstract: Next-generation sequencing (NGS)–based targeted gene capture panels are used to profile hematopoietic malignancies to guide prognostication and treatment decisions. Because these panels include genes associated with hereditary hematopoiet
Externí odkaz:
https://doaj.org/article/9d39cfe2ed3a40e9bed4f702d8809afc
Autor:
Simone Feurstein, Amy M. Trottier, Noel Estrada-Merly, Matthew Pozsgai, Kelsey McNeely, Michael W. Drazer, Brian Ruhle, Katharine Sadera, Ashwin L. Koppayi, Bart L. Scott, Betul Oran, Taiga Nishihori, Vaibhav Agrawal, Ayman Saad, R. Coleman Lindsley, Ryotaro Nakamura, Soyoung Kim, Zhenhuan Hu, Ronald Sobecks, Stephen Spellman, Wael Saber, Lucy A. Godley
Publikováno v:
Blood. 140:2533-2548
The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20%. However, there are no comprehensive studies assessing the frequency of such varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57f06b7ec8a79a8ae6c5e4a3fdadf65
https://doi.org/10.1182/blood.2022015790
https://doi.org/10.1182/blood.2022015790
Autor:
Yasuo Kubota, Misam Zawit, Jibran Durrani, Wenyi Shen, Waled Bahaj, Tariq Kewan, Ben Ponvilawan, Minako Mori, Manja Meggendorfer, Carmelo Gurnari, Thomas LaFramboise, Simone Feurstein, Mikkael A. Sekeres, Valeria Visconte, Lucy A. Godley, Torsten Haferlach, Jaroslaw P. Maciejewski
Publikováno v:
Leukemia. 36:2827-2834
Broader genetic screening has led to the growing recognition of the role of germline variants associated with adult bone marrow failure (BMF) and myeloid neoplasia (MN) not exclusively in children and young adults. In this study, we applied a germlin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81115f2e65cc62a19f034dfa59e6fc0c
https://doi.org/10.1038/s41375-022-01729-4
https://doi.org/10.1038/s41375-022-01729-4
Publikováno v:
Genetics in Medicine. 24:931-954
Refereed/Peer-reviewed Purpose: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for germline variant interpretation are implemented as a broad framework by standardizing variant interpretat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb43b0ce0a996894a819f312b25b45cc
https://doi.org/10.1016/j.gim.2021.12.008
https://doi.org/10.1016/j.gim.2021.12.008