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Journal Articles

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Blood (2019) 134 (23): 2070–2081.

https://doi.org/10.1182/blood.2019000782

Published: 2019

Includes: Supplemental data

Journal Articles

Germline RUNX1 Variation and Predisposition to T-Cell Acute Lymphoblastic Leukemia in Children

Blood (2019) 134 (Supplement_1): 653.

https://doi.org/10.1182/blood-2019-125912

Published: 2019

Journal Articles

Prothrombin R541W Mutation Impairs Protein C Activation and Constitutes a New Genetic Risk Factor for Venous Thrombosis

XI WU, M.S., Dai Jing, Fang Li, PhD, Qin Xu, PhD, Changming Chen, Qiulan Ding, Xuefeng Wang, MD, Wenman WU, MD

Blood (2019) 134 (Supplement_1): 442.

https://doi.org/10.1182/blood-2019-127694

Published: 2019

Journal Articles

Identification of a Spontaneous Noncoding Mutation on Chromosome 18 Which Suppresses Thrombosis in Factor V Leiden Homozygous, TFPI Deficient Mice

Marisa A Brake, BSc, McKenzie A Allen, BSc, Guojing Zhu, MD, Amy E Siebert, PhD, Randal J Westrick, PhD

Blood (2019) 134 (Supplement_1): 483.

https://doi.org/10.1182/blood-2019-130936

Published: 2019

Journal Articles

Congenital STAT3 mutation Mediates Primary Persistent Polymorphic Inflammatory Activation and T Cell Leukemogenesis

Hongxing Liu

Blood (2019) 134 (Supplement_1): 1054.

https://doi.org/10.1182/blood-2019-132138

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

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Reena Das, MD, Manu Jamwal, PhD, Anu Aggarwal, PhD, Prashant Sharma, DM, Man Updesh Singh Sachdeva, MD, Deepak Bansal, MD, Sreejesh Sreedharanunni, DM, Narender Kumar, MD, Shano Naseem, MD, Jasmina Ahluwalia, MD, Neelam Varma, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD

Blood (2019) 134 (Supplement_1): 950.

https://doi.org/10.1182/blood-2019-126453

Published: 2019

Journal Articles

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Blood (2018) 132 (Supplement 1): 2594.

https://doi.org/10.1182/blood-2018-99-114639

Published: 2018

Journal Articles

Unravelling Genetic Mechanisms of Erythrocytosis: A Real-Life Experience from a Single Center

Carmelo Gurnari, MD, Annamaria Lombardi, Elisabetta Cosi, Giacomo Biagetti, Francesco Buccisano, MD, Luca Franceschini, MD, PhD, Manuela Rizzo, MD, Ambra Di Veroli, MD, Luca Maurillo, MD, PhD, Giulia Falconi, PhD, Emiliano Fabiani, PhD, Maria Cantonetti, MD, Ida Provenzano, Daniela Nasso, Francesco Lo-Coco, MD, Maria Luigia Randi, MD, Maria Teresa Voso

Blood (2018) 132 (Supplement 1): 3617.

https://doi.org/10.1182/blood-2018-99-115103

Published: 2018

Journal Articles

Clinical and Genetic Features of Epstein-Barr Virus-Triggered Late-Onset Primary Hemophagocytic Lymphohistiocytosis: 10 Pedigrees Study

Chunrui Li, MD PhD, Lili Gao, Li Yang, Min Xiao, MD PhD, Jianfeng Zhou, MD PhD, Yicheng Zhang, MD PhD

Blood (2018) 132 (Supplement 1): 3903.

https://doi.org/10.1182/blood-2018-99-114009

Published: 2018

Journal Articles

Compound Heterozygous Nonsense Mutations Leading to Hereditary Deficiency of Coagulation Factor XI in a Chinese Pedigree

Qian Li, Hui Zeng, Yong Xu, Min Zhou, Bing Chen, Rong-Fu Zhou, PhD MD

Blood (2018) 132 (Supplement 1): 5032.

https://doi.org/10.1182/blood-2018-99-118105

Published: 2018

Journal Articles

Identification of a Novel Mutation Predisposing to Familial AML and MDS Syndrome By a NGS Approach

Simona Bernardi, PhD, Camilla Zanaglio, PhD, Elif Dereli Eke, PhDStudent, Federica Cattina, MD PhD, Mirko Farina, MD, Stefania Masneri, PhD, Benedetta Rambaldi, MD, Francesca Schieppati, MD, Alessandro Turra, MD, Nicola Polverelli, MD, Enrico Morello, MD, Michele Malagola, MD, Domenico Russo, MD

Blood (2018) 132 (Supplement 1): 4387.

https://doi.org/10.1182/blood-2018-99-109927

Published: 2018

Journal Articles

A Heterozygous Mutation of G-Protein-Coupled Receptor 25 in a Family with Inherited Thrombocytopenia and Thrombosis

Jun Yamanouchi, MD PhD, Yuichi Ikeda, MD, Takaaki Hato, MD PhD, Masaki Yasukawa, MD PhD, Katsuto Takenaka, MD PhD

Blood (2018) 132 (Supplement 1): 1151.

https://doi.org/10.1182/blood-2018-99-110275

Published: 2018

Journal Articles

Genetics of Factor VIII Inhibitor Development in Hemophilia Patients: Novel Statistical Approaches in the PATH Study

Vincent P. Diego, PhD, Marcio A. Almeida, PhD, Bernadette W. Luu, BS, MT/CLS, Karin Haack, PhD, Meera B. Chitlur, MD, Afshin Ameri, MD, Long V. Dinh, PhD, Raja Rajalingam, PhD, Jerry S. Powell, MD, John Blangero, PhD, Laura Almasy, PhD, Shelley Cole, PhD, Tom E. Howard

Blood (2018) 132 (Supplement 1): 1199.

https://doi.org/10.1182/blood-2018-99-120021

Published: 2018

Journal Articles

Early Diagnosis of an Infant with Gaucher's Disease Type 3. Case Report

Adriana C. Bello, MD, Rossana Cortez

Blood (2018) 132 (Supplement 1): 4950.

https://doi.org/10.1182/blood-2018-99-110263

Published: 2018

Journal Articles

Identification of APP As a Novel Candidate Familial Eosinophilia Predisposition Gene

Dan Liu, Peiling Zhang, MD, Fuhong He, PhD, Yueying Li, MD, Wenbing Liu, Xin Liu, PhD, Qianfei Wang, PhD, Jianfeng Zhou, PhD

Blood (2018) 132 (Supplement 1): 3681.

https://doi.org/10.1182/blood-2018-99-117495

Published: 2018

Journal Articles

Human Germline HLTF E259K Mutation Identified in Familial MDS Patients Accumulates DNA Damage through Impaired PCNA Polyubiquitination

Kensuke Takaoka, Masahito Kawazu, Junji Koya, Akihide Yoshimi, Yosuke Masamoto, MD PhD, Hiroaki Maki, Takashi Toya, Takashi Kobayashi, Yasuhito Nannya, MD PhD, Shunya Arai, MD PhD, Hironori Ueno, Kenshi Suzuki, Hironori Harada, Atsushi Manabe, Yasuhide Hayashi, Hiroyuki Mano, MDPhD, Mineo Kurokawa, MD PhD

Blood (2017) 130 (Supplement 1): 4238.

https://doi.org/10.1182/blood.V130.Suppl_1.4238.4238

Published: 2017

Journal Articles

Systematic Assessment of GATA2 Genetic Variation Reveals the Presence of Novel Disease-Causing Synonymous Exonic Mutations

Blood (2017) 130 (Supplement 1): 2449.

https://doi.org/10.1182/blood.V130.Suppl_1.2449.2449

Published: 2017

Journal Articles

Somatic Mutations Associated with Myeloid Transformation of RUNX1 -Mutated Familial Platelet Disorders with Propensity to Myeloid Malignancies Using Targeted Next-Generation Sequencing

Bruno K L Duarte, Samuel S Medina, MD, Gabriela G Yamaguti Hayakawa, MD, Fernando Ferreira Costa, MD PhD, Michael J. Rauh, MD PhD, Margareth C Ozelo, MD PhD

Blood (2017) 130 (Supplement 1): 2482.

https://doi.org/10.1182/blood.V130.Suppl_1.2482.2482

Published: 2017

Journal Articles

Genetic Defects Affecting Lymphocyte Cytotoxicity in Epstein-Barr Virus-Associated T/NK-Cell Lymphoproliferative Diseases

Wei Zhang, MD, Xiao Min, MD PhD, Zhou Jianfeng, MD PhD

Blood (2017) 130 (Supplement 1): 4002.

https://doi.org/10.1182/blood.V130.Suppl_1.4002.4002

Published: 2017

NARROW

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Germline RUNX1 Variation and Predisposition to T-Cell Acute Lymphoblastic Leukemia in Children

Prothrombin R541W Mutation Impairs Protein C Activation and Constitutes a New Genetic Risk Factor for Venous Thrombosis

Identification of a Spontaneous Noncoding Mutation on Chromosome 18 Which Suppresses Thrombosis in Factor V Leiden Homozygous, TFPI Deficient Mice

Congenital STAT3 mutation Mediates Primary Persistent Polymorphic Inflammatory Activation and T Cell Leukemogenesis

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

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Unravelling Genetic Mechanisms of Erythrocytosis: A Real-Life Experience from a Single Center

Clinical and Genetic Features of Epstein-Barr Virus-Triggered Late-Onset Primary Hemophagocytic Lymphohistiocytosis: 10 Pedigrees Study

Compound Heterozygous Nonsense Mutations Leading to Hereditary Deficiency of Coagulation Factor XI in a Chinese Pedigree

Identification of a Novel Mutation Predisposing to Familial AML and MDS Syndrome By a NGS Approach

A Heterozygous Mutation of G-Protein-Coupled Receptor 25 in a Family with Inherited Thrombocytopenia and Thrombosis

Genetics of Factor VIII Inhibitor Development in Hemophilia Patients: Novel Statistical Approaches in the PATH Study

Early Diagnosis of an Infant with Gaucher's Disease Type 3. Case Report

Identification of APP As a Novel Candidate Familial Eosinophilia Predisposition Gene

Human Germline HLTF E259K Mutation Identified in Familial MDS Patients Accumulates DNA Damage through Impaired PCNA Polyubiquitination

Systematic Assessment of GATA2 Genetic Variation Reveals the Presence of Novel Disease-Causing Synonymous Exonic Mutations

Somatic Mutations Associated with Myeloid Transformation of RUNX1 -Mutated Familial Platelet Disorders with Propensity to Myeloid Malignancies Using Targeted Next-Generation Sequencing

Genetic Defects Affecting Lymphocyte Cytotoxicity in Epstein-Barr Virus-Associated T/NK-Cell Lymphoproliferative Diseases

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American Society of Hematology

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American Society of Hematology

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