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Journal Articles

Association of clinical severity with FANCB variant type in Fanconi anemia

Moonjung Jung, Ramanagouda Ramanagoudr-Bhojappa, Sylvie van Twest, Rasim Ozgur Rosti, Vincent Murphy, Winnie Tan, Frank X. Donovan, Francis P. Lach, Danielle C. Kimble, Caroline S. Jiang, Roger Vaughan, Parinda A. Mehta, Filomena Pierri, Carlo Dufour, Arleen D. Auerbach, Andrew J. Deans, Agata Smogorzewska, Settara C. Chandrasekharappa

Blood (2020) 135 (18): 1588–1602.

https://doi.org/10.1182/blood.2019003249

Published: 2020

Includes: Supplemental data

Journal Articles

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

Jibran Durrani, Hassan Awada, MD, Wenyi Shen, MD, Cassandra M Kerr, MS, Vera Adema, PhD, Sunisa Kongkiatkamon, Ashwin Kishtagari, MBBS, Samuel Li, Yasunobu Nagata, MD PhD, Sanghee Hong, MD, Aziz Nazha, MD, Bhumika J. Patel, MD, Yogenthiran Saunthararajah, MD, Hetty E. Carraway, MD MBA, Valeria Visconte, PhD, Seth J. Corey, MD, Mikkael A. Sekeres, MD MS, Thomas Laframboise, PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 452.

https://doi.org/10.1182/blood-2019-130142

Published: 2019

Journal Articles

TET2 Loss Accelerates Leukemogenesis By Disrupting Mismatch Repair Proteins

Blood (2019) 134 (Supplement_1): 1200.

https://doi.org/10.1182/blood-2019-132005

Published: 2019

Journal Articles

Targeting DNA Damage and Repair in Acute Myeloid Leukemia Carrying Internal Tandem Duplication of Fms-like Tyrosine Kinase 3 (FLT3-ITD) - a Mechanistic Study

Ka Lam Nelson Ng, PhD, Claire Lynn, Thomas Wing Yan Leung, Eric Chi Wai So, PhD, Anskar Yu Hung Leung, MD PhD

Blood (2019) 134 (Supplement_1): 1261.

https://doi.org/10.1182/blood-2019-129472

Published: 2019

Journal Articles

New Germline Syndrome Discovery: Heterozygous CSF3R Mutations May Predispose to Myeloid and Lymphoid Malignancies

Amy M Trottier, MDBSc,MSc, Ira L Kraft, MD, Lawrence J Druhan, PhD, Amanda Lance, MS, Belinda R Avalos, MD, Lucy A Godley, MD PhD

Blood (2019) 134 (Supplement_1): 2543.

https://doi.org/10.1182/blood-2019-129492

Published: 2019

Journal Articles

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

Blood (2019) 134 (Supplement_1): 4226.

https://doi.org/10.1182/blood-2019-127204

Published: 2019

Journal Articles

Primary and Secondary Hematological Neoplasms - Are They Related?

Claudia Haferlach, MD, Constance Baer, PhD, Stephan Hutter, PhD, Anna Stengel, PhD, Niroshan Nadarajah, Wencke Walter, PhD, Manja Meggendorfer, PhD, Wolfgang Kern, MD, Torsten Haferlach, MD

Blood (2019) 134 (Supplement_1): 1702.

https://doi.org/10.1182/blood-2019-126585

Published: 2019

Journal Articles

Potential Influence of Hematological or Immunological Hereditary Predisposition Genes on the Outcomes of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Hematological Malignancies

Zhihui Li, Qinlong Zheng, Yongqiang Zhao, Yanzhi Song, Fan Yang, Min Jiang, Chunrong Tong, Tong Wu, MD

Blood (2019) 134 (Supplement_1): 2037.

https://doi.org/10.1182/blood-2019-126339

Published: 2019

Journal Articles

Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility

Anna L Brown, PhD, Milena Babic, BMPharBio (Hons), Andreas Schreiber, Jinghua Feng, PhD, Julia Dobbins, BSc (Hons), Peer Arts, PhD, Paul Wang, PhD, Kerry Phillips, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Parvathy Venugopal, PhD MSc, BSc, Susan Branford, PhD FFSc (RCPA), Nicola Poplawski, MD, Christopher N Hahn, PhD, Hamish S Scott, PhD FFSc (RCPA)

Blood (2019) 134 (Supplement_1): 3794.

https://doi.org/10.1182/blood-2019-131642

Published: 2019

Journal Articles

NHEJ-Mediated Gene Editing, a Versatile Approach to Correct a Variety of Fanconi Anemia Genes in HSCs

Francisco J Roman-Rodriguez, PhD, Laura Ugalde, Lara A. Alvarez, Begoña Díez-Cabezas, PhD, Jordi Surrallés, PhD, Maria Jose Ramirez, PhD, Massimo Bogliolo, PhD, Helmut Hanenberg, MD PhD, Julian Sevilla, MD PhD, Sandra Rodriguez-Perales, PhD, Raul Torres-Ruiz, PhD, Juan A. Bueren, PhD, Paula Rio, PhD

Blood (2019) 134 (Supplement_1): 4639.

https://doi.org/10.1182/blood-2019-129946

Published: 2019

Journal Articles

Fanconi Anemia: A Paradigm for Understanding DNA Repair During Replication.

Agata Smogorzewska, MD PhD

Blood (2019) 134 (Supplement_1): SCI-32.

https://doi.org/10.1182/blood-2019-121229

Published: 2019

Journal Articles

Synthetic Lethal Interaction between Apto-253 and IDH1/2 Mutations

Cheng-Yu Tsai, PhD, Hongying Zhang, MD PhD, William G Rice, PhD, Stephen B Howell, MD

Blood (2019) 134 (Supplement_1): 5755.

https://doi.org/10.1182/blood-2019-123571

Published: 2019

Journal Articles

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

Daisuke Araki, MD, Ma Evette Barranta, Fariba Chinian, MS, Julie Erb-Alvarez, MPH, Thomas Winkler, MD, Neelam Giri, MD, Andre Larochelle, MD PhD

Blood (2019) 134 (Supplement_1): 3753.

https://doi.org/10.1182/blood-2019-123151

Published: 2019

Journal Articles

Prevalence of Inherited Cancer Predisposition Mutations in a Cohort of Older AML Patients Enrolled on the Beat AML Master Trial

Blood (2019) 134 (Supplement_1): 373.

https://doi.org/10.1182/blood-2019-131925

Published: 2019

Journal Articles

Characterization of Germline Variants in Multiple Myeloma

Fernanda Martins Rodrigues, MSc, Qingsong Gao, PhD, Kuan-lin Huang, PhD, Adam David Scott, PhD BA, MS, Steven M. Foltz, MS, Justin King, Mark A. Fiala, BS, Daniel R. Kohnen, MBA, John F. DiPersio, MD PhD, Ravi Vij, MBBS, Li Ding, PhD

Blood (2018) 132 (Supplement 1): 4499.

https://doi.org/10.1182/blood-2018-99-118673

Published: 2018

Journal Articles

Expression Signature of Myeloma Residual Cells Is Characterized By Genes Associated with Proliferation, Epigenetic Modification, and Stem Cell Maintenance

Michael A Bauer, PhD, Matthew Henry, M.S., Purvi Patel, Yan Wang, Joshua Epstein, DSc, Faith E. Davies, MD, Carolina D. Schinke, MD, Maurizio Zangari, MD, Sharmilan Thanendrarajan, MD, Frits van Rhee, MD PhD, Gareth Morgan, MD, Brian A Walker, PhD, Sarah K Johnson, PhD

Blood (2018) 132 (Supplement 1): 4465.

https://doi.org/10.1182/blood-2018-99-119131

Published: 2018

Journal Articles

An Integrated Genomics Analysis Identifies Recurrent Gain- and Loss-of-Function Events and in Distinct Subtypes of Multiple Myeloma

Sara Nasser, PhD, Jessica Aldrich, Daniel Penaherrera, BSc, Austin Christofferson, BSc, Christophe Legendre, Jennifer Yesil, MS, Daniel Auclair, PhD, Winnie Liang, PhD, Sagar Lonial, MD, Sheri Skerget, PhD, Jonathan J Keats, PhD

Blood (2018) 132 (Supplement 1): 113.

https://doi.org/10.1182/blood-2018-99-119354

Published: 2018

Journal Articles

Analysis of BRCA1 and BRCA2 Mutations and Gene Expression in Hematological Malignancies - Implications for Differential Involvement in Pathogenesis of Lymphoid Neoplasms

Anna Stengel, PhD, Wencke Walter, PhD, Stephan Hutter, PhD, Wolfgang Kern, MD, Manja Meggendorfer, PhD, Torsten Haferlach, MD, Claudia Haferlach, MD

Blood (2018) 132 (Supplement 1): 1348.

https://doi.org/10.1182/blood-2018-99-111826

Published: 2018

Journal Articles

BRCA1 & BRCA2 Germline Variants Are Enriched in MDS/AML and Portend Higher Average Mutational Burden

Louis Williams, MD MBA, Teodora Kuzmanovic, BA, Cassandra M. Hirsch, Bartlomiej P. Przychodzen, Yogenthiran Saunthararajah, MD, Hassan Awada, MD, Vera Adema, PhD, Amy C Graham, BS, MS, Tomas Radivoyevitch, PhD, Hetty E. Carraway, MD MBA, Aziz Nazha, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 4352.

https://doi.org/10.1182/blood-2018-99-116802

Published: 2018

Journal Articles

Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH)

Wenyi Shen, MD, Cassandra M. Hirsch, Bartlomiej P. Przychodzen, Hideki Makishima, MD PhD, Louis Williams, MD MBA, Sudipto Mukherjee, MD PhD MPH, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 2583.

https://doi.org/10.1182/blood-2018-99-115228

Published: 2018

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Association of clinical severity with FANCB variant type in Fanconi anemia

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

TET2 Loss Accelerates Leukemogenesis By Disrupting Mismatch Repair Proteins

Targeting DNA Damage and Repair in Acute Myeloid Leukemia Carrying Internal Tandem Duplication of Fms-like Tyrosine Kinase 3 (FLT3-ITD) - a Mechanistic Study

New Germline Syndrome Discovery: Heterozygous CSF3R Mutations May Predispose to Myeloid and Lymphoid Malignancies

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

Primary and Secondary Hematological Neoplasms - Are They Related?

Potential Influence of Hematological or Immunological Hereditary Predisposition Genes on the Outcomes of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Hematological Malignancies

Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility

NHEJ-Mediated Gene Editing, a Versatile Approach to Correct a Variety of Fanconi Anemia Genes in HSCs

Fanconi Anemia: A Paradigm for Understanding DNA Repair During Replication.

Synthetic Lethal Interaction between Apto-253 and IDH1/2 Mutations

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

Prevalence of Inherited Cancer Predisposition Mutations in a Cohort of Older AML Patients Enrolled on the Beat AML Master Trial

Characterization of Germline Variants in Multiple Myeloma

Expression Signature of Myeloma Residual Cells Is Characterized By Genes Associated with Proliferation, Epigenetic Modification, and Stem Cell Maintenance

An Integrated Genomics Analysis Identifies Recurrent Gain- and Loss-of-Function Events and in Distinct Subtypes of Multiple Myeloma

Analysis of BRCA1 and BRCA2 Mutations and Gene Expression in Hematological Malignancies - Implications for Differential Involvement in Pathogenesis of Lymphoid Neoplasms

BRCA1 & BRCA2 Germline Variants Are Enriched in MDS/AML and Portend Higher Average Mutational Burden

Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH)

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