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Journal Articles

Genetic and Clinical Spectrum of SAMD9 and SAMD9L Syndromes: from Variant Interpretation to Patient Management

Sushree S Sahoo, Miriam Erlacher, Marcin W Wlodarski

Blood blood.2022017717.

https://doi.org/10.1182/blood.2022017717

Published: 2024

Includes: Supplemental data

Journal Articles

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, Parvathy Venugopal, Milena Babic, Peter J. Brautigan, Lynda Truong, Luis Arriola-Martinez, Sarah Moore, Rachel Hollins, Wendy T. Parker, Hung Nguyen, Karin S. Kassahn, Susan Branford, Simone Feurstein, Lise Larcher, Flore Sicre de Fontbrune, Serwet Demirdas, Sonja de Munnik, Hélène Antoine-Poirel, Benedicte Brichard, Sahar Mansour, Kristiana Gordon, Marcin W. Wlodarski, Ashwin Koppayi, Sara Dobbins, Pim G. N. J. Mutsaers, Kim E. Nichols, Ninad Oak, Desiree DeMille, Rong Mao, Ali Crawford, Julie McCarrier, Donald Basel, Josue Flores-Daboub, Michael W. Drazer, Kerry Phillips, Nicola K. Poplawski, Graeme M. Birdsey, Daniela Pirri, Pia Ostergaard, Annet Simons, Lucy A. Godley, David M. Ross, Devendra K. Hiwase, Jean Soulier, Anna L. Brown, Catherine L. Carmichael, Hamish S. Scott, Christopher N. Hahn

Blood (2024) 144 (17): 1765–1780.

https://doi.org/10.1182/blood.2024024607

Published: 2024

Includes: Supplemental data

Journal Articles

Reduced Polycomb Repressor Complex 2 (PRC2) Activity and Increased TP53 Activity Mediate Hematopoietic Stem Cell Dysfunction in RPS19-Mutated Diamond-Blackfan Anemia

Senthil V Bhoopalan, Ruopeng Feng, Thiyagaraj Mayuranathan, Kalin Mayberry, Yoonjeong Jang, Jonathan S Yen, Yu Yao, Lance Palmer, Yong Cheng, Marcin W Wlodarski, Mitchell J. Weiss

Blood (2023) 142 (Supplement 1): 2732.

https://doi.org/10.1182/blood-2023-190069

Published: 2023

Journal Articles

Systematic Mapping of Gene-Editable Mutations in GATA2 and SAMD9/SAMD9L Syndromes

Damian Krzyzanowski, Sushree S Sahoo, Lili Kotmayer, Masanori Yoshida, Majd Khiami, Alessandra Giorgetti, Shengdar Q Tsai, Senthil V Bhoopalan, Jonathan S Yen, Marcin W Wlodarski

Blood (2023) 142 (Supplement 1): 1362.

https://doi.org/10.1182/blood-2023-190982

Published: 2023

Journal Articles

Branching Trajectories and Diversification of Clonal Escape in Aplastic Anemia Revealed By Single-Cell Genomics

Masanori Yoshida, Paula Arnold, Carmelo Gurnari, Charnise Goodings, Shinsuke Hirabayashi, Miriam Erlacher, Jaroslaw P. Maciejewski, Charlotte Marie Niemeyer, Marcin W Wlodarski

Blood (2023) 142 (Supplement 1): 705.

https://doi.org/10.1182/blood-2023-186205

Published: 2023

Journal Articles

ERCC6L2 syndrome: attack of the TP53 clones

Marcin W. Wlodarski

Blood (2023) 141 (23): 2788–2789.

https://doi.org/10.1182/blood.2023020394

Published: 2023

Journal Articles

Multiplex CRISPR/Cas9 Gene Editing in Human Stem Cells to Model Clonal Competition in GATA2 Deficiency

Damia Romero-Moya, Oskar Marin-Bejar, Maximiliano Distefano, Joan Pera, Julio Castaño, Jessica Gonzalez, Lili Kotmayer, Csaba Bödör, Albert Català, Marcin W Wlodarski, Anna Bigas, Alessandra Giorgetti

Blood (2022) 140 (Supplement 1): 8664–8665.

https://doi.org/10.1182/blood-2022-156882

Published: 2022

Journal Articles

Mutational Permutations of a Single Amino Acid Exert Divergent Phenotypic Effects in Human, Mice, and Cellular Models of SAMD9L Bone Marrow Failure Disorder

Sushree S Sahoo, Charnise Goodings-Harris, Shondra Miller, Maria Angeles Lillo Osuna, Baranda S Hansen, Lei Han, Ti-Cheng Chang, Tim Lammens, Mattias Hofmans, Marta Derecka, Barbara De Moerloose, Marcin W Wlodarski

Blood (2022) 140 (Supplement 1): 2216–2217.

https://doi.org/10.1182/blood-2022-169400

Published: 2022

Journal Articles

Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation

Masanori Yoshida, Felicia Andresen, Hermann Yang, Sara Lewis, Miriam Erlacher, Dirk Lebrecht, Akiko Shimamura, Charlotte M. Niemeyer, Sushree S Sahoo, Marcin W Wlodarski

Blood (2022) 140 (Supplement 1): 5816–5817.

https://doi.org/10.1182/blood-2022-166742

Published: 2022

Journal Articles

Transient Monosomy 7 Is a Rare Event in Young Children with SAMD9L Syndrome

Blood (2022) 140 (Supplement 1): 8678–8679.

https://doi.org/10.1182/blood-2022-159221

Published: 2022

Journal Articles

Germline SAMD9/9L MDS Predisposition Syndromes Are Characterized By Complex Clonal Architecture and Lineage-Specific Escape Mechanisms Including Somatic Genetic Rescue in T and B Lymphocytes

Charnise Goodings-Harris, Sushree Sangita Sahoo, Sara Lewis, Emilia J. Kozyra, Marc Arribas-Layton, Senthilkumar Ramamoorthy, Rohith Jesudas, Nathan Gray, Miriam Erlacher, Charlotte M. Niemeyer, Marcin W Wlodarski

Blood (2022) 140 (Supplement 1): 1195–1196.

https://doi.org/10.1182/blood-2022-163337

Published: 2022

Journal Articles

Germline Loss-of-Function Mutations in MDM4 Cause p53-Dependent Hematopoietic Cell Death in Patients with Variable Bone Marrow Failure Phenotypes

Richa Sharma, Senthil Bhoopalan, Lei Han, Yu Yao, Kalin Mayberry, Baranda S Hansen, Shondra Miller, Claudia Khurana, Miriam Erlacher, Marcin W Wlodarski

Blood (2022) 140 (Supplement 1): 2955–2956.

https://doi.org/10.1182/blood-2022-162614

Published: 2022

Journal Articles

UBTF tandem Duplications Account for a Third of Advanced Pediatric MDS without Genetic Predisposition to Myeloid Neoplasia

Blood (2022) 140 (Supplement 1): 1355–1356.

https://doi.org/10.1182/blood-2022-159002

Published: 2022

Journal Articles

The rise of Apollo, protector of telomeres

Marcin W. Wlodarski

Blood (2022) 139 (16): 2415–2416.

https://doi.org/10.1182/blood.2021015199

Published: 2022

Journal Articles

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Blood (2022) 139 (7): 1039–1051.

https://doi.org/10.1182/blood.2021011980

Published: 2022

Includes: Supplemental data

Journal Articles

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Blood (2021) 138 (23): 2441–2445.

https://doi.org/10.1182/blood.2021012781

Published: 2021

Includes: Supplemental data

Journal Articles

Liposome-Encapsulated Cytarabine and Daunorubicin (CPX-351) Induces Remission in Newly Diagnosed Pediatric Secondary Myeloid Malignancies

Kenneth J Caldwell, Yixin Hu, Mihaela Onciu, Sara M Federico, Marta Salek, Sara Lewis, Shaohua Lei, Jinghui Zhang, Kim E. Nichols, Clifford M Takemoto, Brandon M Triplett, Jason E Farrar, Jeffrey E. Rubnitz, Raul C Ribeiro, Marcin W. Wlodarski

Blood (2021) 138 (Supplement 1): 4415.

https://doi.org/10.1182/blood-2021-149619

Published: 2021

Journal Articles

A Novel RPS19 -Edited Hematopoietic Stem Cell Model of Diamond-Blackfan Anemia for Development of Lentiviral Vector Gene Therapy

Senthil Velan Bhoopalan, Jonathan Yen, Thiyagaraj Mayuranathan, Yu Yao, Kalin Mayberry, Sheng Zhou, Robert Throm, Marcin W. Wlodarski, Mitchell J. Weiss

Blood (2021) 138 (Supplement 1): 859.

https://doi.org/10.1182/blood-2021-147557

Published: 2021

Journal Articles

Metformin for Treatment of Cytopenias in Children and Young Adults with Fanconi Anemia

Blood (2021) 138 (Supplement 1): 1102.

https://doi.org/10.1182/blood-2021-153598

Published: 2021

Journal Articles

Clonal Hematopoiesis in Patients with Diamond Blackfan Anemia

Michelle Nash, MD, Adrianna Vlachos, MD, Marcin W. Wlodarski, MD PhD, Jeffrey Michael Lipton, MDPhD

Blood (2020) 136 (Supplement 1): 25–26.

https://doi.org/10.1182/blood-2020-139652

Published: 2020

NARROW

Genetic and Clinical Spectrum of SAMD9 and SAMD9L Syndromes: from Variant Interpretation to Patient Management

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Reduced Polycomb Repressor Complex 2 (PRC2) Activity and Increased TP53 Activity Mediate Hematopoietic Stem Cell Dysfunction in RPS19-Mutated Diamond-Blackfan Anemia

Systematic Mapping of Gene-Editable Mutations in GATA2 and SAMD9/SAMD9L Syndromes

Branching Trajectories and Diversification of Clonal Escape in Aplastic Anemia Revealed By Single-Cell Genomics

ERCC6L2 syndrome: attack of the TP53 clones

Multiplex CRISPR/Cas9 Gene Editing in Human Stem Cells to Model Clonal Competition in GATA2 Deficiency

Mutational Permutations of a Single Amino Acid Exert Divergent Phenotypic Effects in Human, Mice, and Cellular Models of SAMD9L Bone Marrow Failure Disorder

Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation

Transient Monosomy 7 Is a Rare Event in Young Children with SAMD9L Syndrome

Germline SAMD9/9L MDS Predisposition Syndromes Are Characterized By Complex Clonal Architecture and Lineage-Specific Escape Mechanisms Including Somatic Genetic Rescue in T and B Lymphocytes

Germline Loss-of-Function Mutations in MDM4 Cause p53-Dependent Hematopoietic Cell Death in Patients with Variable Bone Marrow Failure Phenotypes

UBTF tandem Duplications Account for a Third of Advanced Pediatric MDS without Genetic Predisposition to Myeloid Neoplasia

The rise of Apollo, protector of telomeres

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Liposome-Encapsulated Cytarabine and Daunorubicin (CPX-351) Induces Remission in Newly Diagnosed Pediatric Secondary Myeloid Malignancies

A Novel RPS19 -Edited Hematopoietic Stem Cell Model of Diamond-Blackfan Anemia for Development of Lentiviral Vector Gene Therapy

Metformin for Treatment of Cytopenias in Children and Young Adults with Fanconi Anemia

Clonal Hematopoiesis in Patients with Diamond Blackfan Anemia

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American Society of Hematology

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American Society of Hematology

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