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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

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

Treatment and Follow-up Data for Young Patients with a Gne Defect and Congenital Thrombocytopenia

Barbara Zieger, Karin M. Hoffmeister, Alfred Leipold, Eva-Maria Kornemann, Miriam Erlacher, Doris Boeckelmann

Blood (2023) 142 (Supplement 1): 3963.

https://doi.org/10.1182/blood-2023-180620

Published: 2023

Journal Articles

IL-7 receptor signaling drives human B-cell progenitor differentiation and expansion

Fabian M. P. Kaiser, Iga Janowska, Roberta Menafra, Melanie de Gier, Jakov Korzhenevich, Ingrid Pico-Knijnenburg, Indu Khatri, Ansgar Schulz, Taco W. Kuijpers, Arjan C. Lankester, Lukas Konstantinidis, Miriam Erlacher, Susan Kloet, Pauline A. van Schouwenburg, Marta Rizzi, Mirjam van der Burg

Blood (2023) 142 (13): 1113–1130.

https://doi.org/10.1182/blood.2023019721

Published: 2023

Includes: Supplemental data

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

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

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

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

Multi-Omics Profiling of JMML HSPCs Reveals Onco-Fetal Reprogramming and Identifies Novel Prognostic Biomarkers and Therapeutic Targets in High-Risk JMML

Blood (2022) 140 (Supplement 1): 8729–8730.

https://doi.org/10.1182/blood-2022-162224

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

MCL-1 and BCL-XL: blood brothers

Miriam Erlacher, Verena Labi

Blood (2021) 137 (14): 1850–1851.

https://doi.org/10.1182/blood.2020010569

Published: 2021

Journal Articles

NF1 Tumor Suppressor Gene Inactivation in Juvenile Myelomonocytic Leukemia: New Genetic Evidence and Consequences for Diagnostic Work-up

Blood (2020) 136 (Supplement 1): 30–31.

https://doi.org/10.1182/blood-2020-136294

Published: 2020

Journal Articles

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Richa Sharma, MD, Sushree Sangita Sahoo, PhD, Masayoshi Honda, Charnise Goodings-Harris, PhD, Victor Pastor, PhD, Hauke Busch, PhD, Melanie Börries, PhD, Fabian Beier, MD, Miriam Erlacher, MD PhD, Melchior Lauten, Marc Wold, PhD, Maria Spies, PhD, Charlotte M. Niemeyer, MD, Marcin Wlodarski, MD PhD

Blood (2020) 136 (Supplement 1): 36–37.

https://doi.org/10.1182/blood-2020-143006

Published: 2020

Journal Articles

Nonpermissive bone marrow environment impairs early B-cell development in common variable immunodeficiency

Blood (2020) 135 (17): 1452–1457.

https://doi.org/10.1182/blood.2019003855

Published: 2020

Includes: Supplemental data

Journal Articles

The Fanconi Anemia-Associated Protein NIPA Is Essential for the Nuclear Abundance of FANCD2

Blood (2019) 134 (Supplement_1): 3741.

https://doi.org/10.1182/blood-2019-125973

Published: 2019

Journal Articles

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Ayami Yoshimi, MD PhD, Sarah C Grünert, MD, Holger Cario, MD PhD, Ute Gross-Wieltsch, MD, Udo Kontny, MD, Kyogo Suzuki, MD PhD, Stephan Lobitz, MD, Helen Wagner, MD, Irene Schmid, MD, Daniela Karall, MD, Arndt Borkhardt, MD, Miriam Erlacher, Peter Noellke, MPH, Charlotte M. Niemeyer, MD

Blood (2019) 134 (Supplement_1): 3746.

https://doi.org/10.1182/blood-2019-125199

Published: 2019

Journal Articles

Oncogenic KRAS G12D in the Hematopoietic System Causes NLRP3 Inflammasome Activation Leading to Myeloproliferative Syndrome

Shaima'A Hamarsheh, MSc, BSc, Miriam Erlacher, MD PhD, Lena Osswald, Oliver Gorka, PhD, Justus Duyster, Prof., Olaf Groß, PhD, Claudia Lengerke, MD, Melanie Börries, PhD, Tilman Brummer, PhD, Robert Zeiser, MD

Blood (2018) 132 (Supplement 1): 2618.

https://doi.org/10.1182/blood-2018-99-114161

Published: 2018

Journal Articles

SAMD9 and SAMD9L Germline Disorders in Patients Enrolled in Studies of the European Working Group of MDS in Childhood (EWOG-MDS): Prevalence, Outcome, Phenotype and Functional Characterisation

Blood (2018) 132 (Supplement 1): 643.

https://doi.org/10.1182/blood-2018-99-118389

Published: 2018

Journal Articles

Deletion of the p53 Target Gene PUMA Prevents Bone Marrow Failure in a Dyskeratosis Congenita Mouse Model

Miriam Erlacher, MD PhD, Christian Molnar, Julia Miriam Weiss, Sheila Bohler, Doris Steinemann, PhD, Gudrun Göhring, MD, Andreas Villunger, Verena Labi, Charlotte Niemeyer, MD, Alexander Egle, MD

Blood (2018) 132 (Supplement 1): 648.

https://doi.org/10.1182/blood-2018-99-116349

Published: 2018

NARROW

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

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

Treatment and Follow-up Data for Young Patients with a Gne Defect and Congenital Thrombocytopenia

IL-7 receptor signaling drives human B-cell progenitor differentiation and expansion

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

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

Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation

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

Multi-Omics Profiling of JMML HSPCs Reveals Onco-Fetal Reprogramming and Identifies Novel Prognostic Biomarkers and Therapeutic Targets in High-Risk JMML

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

MCL-1 and BCL-XL: blood brothers

NF1 Tumor Suppressor Gene Inactivation in Juvenile Myelomonocytic Leukemia: New Genetic Evidence and Consequences for Diagnostic Work-up

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Nonpermissive bone marrow environment impairs early B-cell development in common variable immunodeficiency

The Fanconi Anemia-Associated Protein NIPA Is Essential for the Nuclear Abundance of FANCD2

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Oncogenic KRAS G12D in the Hematopoietic System Causes NLRP3 Inflammasome Activation Leading to Myeloproliferative Syndrome

SAMD9 and SAMD9L Germline Disorders in Patients Enrolled in Studies of the European Working Group of MDS in Childhood (EWOG-MDS): Prevalence, Outcome, Phenotype and Functional Characterisation

Deletion of the p53 Target Gene PUMA Prevents Bone Marrow Failure in a Dyskeratosis Congenita Mouse Model

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American Society of Hematology

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ASH Publications

American Society of Hematology

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