المؤلفون: Julian Zoller, Despina Trajanova, Simone Feurstein

المصدر: Frontiers in Oncology, Vol 13 (2023)

مصطلحات موضوعية: inherited hematologic malignancies, next-generation sequencing somatic drivers, DDX41, ETV6, GATA2, RUNX1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2023.1205855/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/e9cac98260e14b27ac9dffd4d5d77bef

المؤلفون: 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

المصدر: eJHaem, Vol 3, Iss 4, Pp 1377-1380 (2022)

مصطلحات موضوعية: AL amyloidosis, case report, light chain proximal tubulopathy, monoclonal gammopathy of renal significance, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2688-6146

URL الوصول: https://doaj.org/article/762da7cf1a1d491ba281f9f797e23edf

المؤلفون: Simone Feurstein

المصدر: Frontiers in Oncology, Vol 13 (2023)

مصطلحات موضوعية: bone marrow failure, ADH5, ALDH2, DNAJC21, ERCC6L2, MECOM, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2023.1128533/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/956e7aff55dd44429e2bc474810203d9

المؤلفون: 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

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100055- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000559; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/7cfbbb239d5c4f12aa716750516882dc

المؤلفون: 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

المصدر: Blood Advances, Vol 3, Iss 20, Pp 2962-2979 (2019)

مصطلحات موضوعية: Specialties of internal medicine, RC581-951

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2473952920318152; https://doaj.org/toc/2473-9529

URL الوصول: https://doaj.org/article/147cccd407e042c69af7b468c729162f

المؤلفون: 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

المصدر: Haematologica, Vol 105, Iss 4 (2020)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/9324; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/db5f643664714946a3861fe77c9cbbe5

المؤلفون: 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

المصدر: Blood. 140:2533-2548

مصطلحات موضوعية: Adult, Germ Cells, Myelodysplastic Syndromes, Immunology, Humans, Genetic Predisposition to Disease, Genetic Testing, Cell Biology, Hematology, Biochemistry, Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57f06b7ec8a79a8ae6c5e4a3fdadf65
https://doi.org/10.1182/blood.2022015790

المؤلفون: 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

المصدر: Blood Advances, Vol 2, Iss 2, Pp 146-150 (2018)

مصطلحات موضوعية: Specialties of internal medicine, RC581-951

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2473952920311241; https://doaj.org/toc/2473-9529

URL الوصول: https://doaj.org/article/9d39cfe2ed3a40e9bed4f702d8809afc

المؤلفون: 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

المصدر: Leukemia. 36:2827-2834

مصطلحات موضوعية: Heterozygote, Cancer Research, Phenotype, Myeloproliferative Disorders, Oncology, Pancytopenia, Neoplasms, Humans, Hematology, Bone Marrow Failure Disorders, Settore MED/15, Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81115f2e65cc62a19f034dfa59e6fc0c
https://doi.org/10.1038/s41375-022-01729-4

المؤلفون: Simone Feurstein, Christopher N. Hahn, Nikita Mehta, Lucy A. Godley

المساهمون: Feurstein, Simone, Hahn, Christopher N, Mehta, Nikita, Godley, Lucy A

المصدر: Genetics in Medicine. 24:931-954

مصطلحات موضوعية: Genome, Human, Genetic Variation, ACMG/AMP criteria, curation, Bone Marrow Failure Disorders, germline variant, Germ Cells, Hematologic Neoplasms, Humans, cytopenia, hematopoietic malignancies, Genetic Testing, bone marrow failure, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb43b0ce0a996894a819f312b25b45cc
https://doi.org/10.1016/j.gim.2021.12.008

المؤلفون: Niles Nelson, Simone Feurstein, Aram Niaz, Jia Quyen Truong, Jessica Holien

مصطلحات موضوعية: Genetics not elsewhere classified, ACMG/AMP criteria, Direct telomerase assay, Germline variant curation, Telomere biology disorder, Telomeric repeat amplification protocol

Relation: 10779/rmit.27573639.v1; https://figshare.com/articles/journal_contribution/Functional_genomics_for_curation_of_variants_in_telomere_biology_disorder_associated_genes_A_systematic_review/27573639

الاتاحة: https://figshare.com/articles/journal_contribution/Functional_genomics_for_curation_of_variants_in_telomere_biology_disorder_associated_genes_A_systematic_review/27573639

المؤلفون: Simone Feurstein

مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, bone marrow failure, ADH5, ALDH2, DNAJC21, ERCC6L2, MECOM, early onset myeloid malignancies

Relation: https://figshare.com/articles/dataset/Table_1_Emerging_bone_marrow_failure_syndromes-_new_pieces_to_an_unsolved_puzzle_xlsx/22566229

الاتاحة: https://doi.org/10.3389/fonc.2023.1128533.s001
https://figshare.com/articles/dataset/Table_1_Emerging_bone_marrow_failure_syndromes-_new_pieces_to_an_unsolved_puzzle_xlsx/22566229

المؤلفون: Simone Feurstein, Kathrin Thomay, Winfried Hofmann, Guntram Buesche, Hans Kreipe, Felicitas Thol, Michael Heuser, Arnold Ganser, Brigitte Schlegelberger, Gudrun Göhring

المصدر: International Journal of Molecular Sciences; Volume 19; Issue 10; Pages: 3269

مصطلحات موضوعية: myelodysplastic syndrome, clonal evolution, chromothripsis, complex karyotype, TP53

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms19103269

الاتاحة: https://doi.org/10.3390/ijms19103269

المؤلفون: Ulla Wartiovaara-Kautto, Ulrich Germing, Hari Prasanna Subramanian, Tara Cronin, Gudrun Goehring, Elizabeth A. Griffiths, Guimin Gao, Eunice S. Wang, Mary Claire King, Simone Feurstein, Carolyn Owen, Thomas Schroeder, Brigitte Schlegelberger, Outi Kilpivaara, Marja Hakkarainen, Torsten Haferlach, Divij Verma, Felicitas Thol, Stefanie Geyh, Hartmut Döhner, Colin C. Pritchard, Sioban Keel, Juehua Gao, Zejuan Li, Tom Walsh, Daniela S. Krause, Suleyman Gulsuner, Michael Heuser, Lucy A. Godley, Daniela del Gaudio, Ming Lee, Jane E. Churpek, Konstanze Döhner, Soma Das, Christian Pohlkamp

المصدر: Leukemia

مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Adolescent, Article, Germline, Young Adult, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Aplastic anemia, Young adult, Germ-Line Mutation, business.industry, Anemia, Aplastic, Hematology, Prognosis, medicine.disease, Myelodysplastic Syndromes, Female, Line (text file), business, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8decc2783192df4f187c197ea5387d31
https://doi.org/10.1038/s41375-021-01137-0

المؤلفون: Simone Feurstein, Xi Luo, Mancy Shah, Taylor Walker, Nikita Mehta, David Wu, Lucy A. Godley

المصدر: Blood advances. 6(16)

مصطلحات موضوعية: Core Binding Factor Alpha 2 Subunit, Genetic Variation, Hematology, Genetic Testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe24a35d34e8d7dc603e792238ddc719
https://pubmed.ncbi.nlm.nih.gov/35764482

المؤلفون: Claire C. Homan, Parvathy Venugopal, Peer Arts, Nur H. Shahrin, Simone Feurstein, Lesley Rawlings, David M. Lawrence, James Andrews, Sarah L. King‐Smith, Natasha L. Harvey, Anna L. Brown, Hamish S. Scott, Christopher N. Hahn

المصدر: Human Mutation. 42

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::966e4a2ff17258284f4c481b1137b35c
https://doi.org/10.1002/humu.24288

المؤلفون: Taylor Walker, Mancy Shah, Shruthi Mohan, Eran Tallis, Xi Luo, Simone Feurstein, David Wu, Lucy Godley

المصدر: Cancer Genetics. :42

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f2287d98f1885810fb5fb3ff45d5420
https://doi.org/10.1016/j.cancergen.2022.10.133

المؤلفون: Lucy A. Godley, Michael W. Drazer, Simone Feurstein

المصدر: Human molecular genetics. 30(20)

مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Biology, Bioinformatics, Germline, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Molecular Biology, Gene, Genetics (clinical), Germ-Line Mutation, Genetic testing, medicine.diagnostic_test, Cancer, General Medicine, medicine.disease, Haematopoiesis, 030104 developmental biology, Hematologic Neoplasms, Stem cell, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86820e4ceb5ad2b561d5244ecf662007
https://pubmed.ncbi.nlm.nih.gov/34100074

المؤلفون: Claire Homan, Parvathy Venugopal, Peer Arts, Nur Hezrin Shahrin, Simone Feurstein, Lesley Rawlings, David Lawrence, James Andrews, Sarah King-Smith, Anna Brown, Hamish Scott, Christopher Hahn

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9afa0c588d92e8e9663e3ce3a19a402f
https://doi.org/10.22541/au.161453332.24299786/v1

المؤلفون: David Lawrence, Hamish S. Scott, Parvathy Venugopal, Claire C. Homan, James Andrews, Sarah L King-Smith, Natasha L. Harvey, Nur Hezrin Shahrin, Simone Feurstein, Christopher N. Hahn, Anna L. Brown, Peer Arts, Lesley Rawlings

المساهمون: Homan, Claire C, Venugopal, Parvathy, Arts, Peer, Shahrin, Nur H, Feurstein, Simone, Rawlings, Lesley, Lawrence, David M, Andrews, James, King-Smith, Sarah L, Harvey, Natasha L, Brown, Anna L, Scott, Hamish S, Hahn, Christopher N

مصطلحات موضوعية: Adult, Adolescent, GATA2 Deficiency, Disease, Biology, Germline, Cohort Studies, Young Adult, Genetics, medicine, Humans, GATA2 deficiency syndrome, Child, Genetics (clinical), Immunodeficiency, Aged, GATA2, Infant, Newborn, Myeloid leukemia, Infant, Middle Aged, lymphedema, medicine.disease, GATA2 Transcription Factor, myeloidmalignancy, predisposition, Child, Preschool, germline variants, Immunology, Age of onset, Haploinsufficiency, immunodeficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f13f4fdf308a69d461d6ff418c7a312
https://hdl.handle.net/11541.2/25469