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Journal Articles

Computational Analysis Model Applied to Spanish Gaucher Registry Data

Marcio M Andrade-Campos, MD PhD, Laura Lopez de Frutos, PhD, Jorge J Cebolla, MSc, Blanca Medrano-Engay, PhD, Mercedes Roca-Espiau, PhD, Beatriz Gomez-Barrera, David Iniguez, Pilar Giraldo, PhD

Blood (2019) 134 (Supplement_1): 2323.

https://doi.org/10.1182/blood-2019-122347

Published: 2019

Journal Articles

Hematological Disorders in Human Patients with Son Mutations

Lana Vukadin, Jung-Hyun Kim, PhD, Tara Bly Hackwelder, Nathan Ungerleider, PhD, Erik Flemington, Eun-Young Erin Ahn, PhD

Blood (2019) 134 (Supplement_1): 3709.

https://doi.org/10.1182/blood-2019-130616

Published: 2019

Journal Articles

Whole Exome Sequencing of Relapsed Double-Mutated CEBPA Acute Myeloid Leukemia Identified Mutated KIT and WNT10A As a Potential Co-Mutation with Negative Impact on Prognosis

Chin-Hin NG, MD MRCP, FRCPATH, MCI, Alvin Yu-Jin Ng, PhD, Benedict Yan, MBBS, Wee-Joo Chng, MBBS, PhD

Blood (2019) 134 (Supplement_1): 5177.

https://doi.org/10.1182/blood-2019-127727

Published: 2019

Journal Articles

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Shruthi Mohan, PhD, Kristy Lee, MS, CGC, Manuel Carcao, Bhavya S Doshi, MD, Kate Downes, PhD, Geoff Kemball-Cook, PhD, Frank Leebeek, MD PhD, Jamie McCreery, MS, CGC, Connie H. Miller, PhD, Amanda B Payne, MPH,PhD, Valerie Trapp-Stamborski, PhD, Barbara A. Konkle, MD, Keith Gomez, MBBS, PhD MRCP, FRCPath

Blood (2019) 134 (Supplement_1): 5794.

https://doi.org/10.1182/blood-2019-124842

Published: 2019

Journal Articles

Cathelicidin Antimicrobial Peptide Expression Is Inversely Associated with Absolute Neutrophil Counts in Pediatric HCT Recipients

Jos Domen, PhD, Hung-Wen Yeh, PhD, Nancy L Shreve, Lei Sun, MD, Yongwu Li, MD, Katrina D Walters, CCRC, Jignesh Dalal, MD, Rakesh K. Goyal, MBBS,MDMRCP

Blood (2019) 134 (Supplement_1): 3294.

https://doi.org/10.1182/blood-2019-131471

Published: 2019

Journal Articles

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Anna L. Brown, PhD BSc, Mark Armstrong, MSc, David Lawrence, Paul Wang, Peer Arts, PhD, Nicolas Duployez, PharmD, PhD, Jane Churpek, MD, Kiran Tawana, MD, Erin Degelman, MSc, BSc, Georges Natsoulis, PhD, Monica L. Guzman, PhD, Mrinal M. Patnaik, MD MBBS, Akiko Shimamura, MD PhD, Alan B. Cantor, MD PhD, Tim Ripperger, MD PhD, Brigitte Schlegelberger, MD PhD, Doris Steinemann, PhD, Courtney D. DiNardo, MD MSc, Cristina Mecucci, MD PhD, Elvira DRP Velloso, MD PhD, Fabio PS Santos, MD, Marcela CA Silva, Uma Borate, MD, Shannon K. McWeeney, PhD, Grzegorz Nalepa, MD PhD, Susanne Ragg, MD PhD, Erika Mijin Kwon, PhD, Anupriya Agarwal, PhD, Stephen Langabeer, PhD, Jeffery M. Klco, MD PhD, Jun J. Yang, PhD, Cecily Forsyth, FRACP, FRCPA, MBBS, Sally Mapp, MD PhD, Helen Mar Fan, MD, Lesley Rawlings, PhD, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Andrew H Wei, MBBS,PhD, Inderjeet Dokal, MD, Tom Vulliamy, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Deepak Singhal, MBBS, MD FRACP, FRCPA, Susan Branford, PhD, Elli Papaemmanuil, PhD, Jean Soulier, MDPhD, Stefan Fröhling, MD, Alwin Kramer, MD, Guy Sauvageau, MD PhD, Neil Morgan, Carolyn Owen, Csaba Bödör, PhD, Jude Fitzgibbon, Hugh Y. Rienhoff, Jr., MD, Mineo Kurokawa, MD PhD, Lucy Godley, MD PhD, Claude Preudhomme, Paul P Liu, MD PhD, Nicola Poplawski, MD, Christopher N. Hahn, PhD, Hamish S. Scott, PhD

Blood (2018) 132 (Supplement 1): 5241.

https://doi.org/10.1182/blood-2018-99-118017

Published: 2018

Journal Articles

Human Hematopoietic Progenitor Cells and Erythrocytes Generated from Human iPSCs Lacking CD55

Mengyao Wu, Senquan Liu, Hao Bai, PhD, Yongxing Gao, Rachel Evans, David Sullivan, Tong Chen, MD, Linzhao Cheng, PhD

Blood (2017) 130 (Supplement 1): 2204.

https://doi.org/10.1182/blood.V130.Suppl_1.2204.2204

Published: 2017

Journal Articles

In Vitro Erythropoietic Response to Enzyme Replacement Therapy in Gaucher Type 1 Patients

Paola Delbini, PhD, Irene Motta, Elena Cassinerio, Lorena Duca, Elena Trombetta, Margherita Migone De Amicis, Maria Domenica Cappellini, MD

Blood (2017) 130 (Supplement 1): 3476.

https://doi.org/10.1182/blood.V130.Suppl_1.3476.3476

Published: 2017

Journal Articles

The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia

Hiromi Ogura, MD PhD, Toshiyuki Yamamoto, MD PhD, Taiju Utsugisawa, MD PhD, Takako Aoki, MLS, Takuya Iwasaki, MLS, Yumiko Ondo, MLS, Takahiro Kawakami, MD PhD, Shinichiro Nakagawa, MD PhD, Shuichi Ozono, MD PhD, Hiroko Inada, MD PhD, Hitoshi Kanno, MD PhD

Blood (2016) 128 (22): 400.

https://doi.org/10.1182/blood.V128.22.400.400

Published: 2016

Journal Articles

Identification of Novel Mutations with Molecular Modelling of Missense Mutations of Congenital Afibrinogenemia Patients in Pakistan

Tehmina nafees sonia Khan, M.B;B.S ,PhD, Arshi Naz, MSc.PhD, Arjit Biswas, Anne Goodeve, PhD, Nisar Ahmed, FCPS haematology, Shariq Ahmed, B.S, Tahir Shamsi, MBBS, MRCPath,FRCPath, Johannes Oldenburg

Blood (2015) 126 (23): 4664.

https://doi.org/10.1182/blood.V126.23.4664.4664

Published: 2015

Journal Articles

Genome-Wide Molecular Portrait of Aggressive Systemic Mastocytosis and Mast Cell Leukemia Depicted By Whole Exome Sequencing and Copy Number Variation Analysis

Blood (2015) 126 (23): 4085.

https://doi.org/10.1182/blood.V126.23.4085.4085

Published: 2015

Journal Articles

A Dominant Gain-of-Function Mutation in Universal Tyrosine Kinase SRC Causes Enhanced Podosome Formation in a Syndrome with Thrombocytopenia, Myelofibrosis, Bleeding and Bone Pathologies

Kathleen Freson, Ernest Turro, Willem Ouwehand, MD, PhD

Blood (2015) 126 (23): LBA-7.

https://doi.org/10.1182/blood.V126.23.LBA-7.LBA-7

Published: 2015

Journal Articles

Analysis of WT1 Mutations and Combined Aberrations in Childhood Acute Myeloid Leukemia using Whole Exome Sequencing

Nils von Neuhoff, PhD, Peter Husemann, PhD, Robert Geffers, PhD, Christiane Walter, M.Sc., Christine von Neuhoff, MD, Martin Zimmermann, PhD, Brigitte Schlegelberger, MD, Dirk Reinhardt, MD PhD

Blood (2014) 124 (21): 2340.

https://doi.org/10.1182/blood.V124.21.2340.2340

Published: 2014

Journal Articles

Splenectomy in a Child of X-Linked Thrombocytopenia with Thalassemia and Bone Marrow Fibrosis : Hemoglobin and Platelet Count Were Improved

Yang Wan, Xiaofan Zhu, Xiaojuan Chen, Wenbin An, Peihong Zhang, Yingchi Zhang, Ye Guo, MD

Blood (2014) 124 (21): 1367.

https://doi.org/10.1182/blood.V124.21.1367.1367

Published: 2014

Journal Articles

Polycythemia-Inducing Mutations In The Erythropoietin Receptor (EPOR): Mechanism and Function Elucidated By EGFR– EPOR Chimeras

Mor Gross, Nathalie Ben-Califa, PhD, Hans Carl Hasselbalch, MD, DMSc, Mary Frances McMullin, MD, Melanie Percy, PhD, Celeste Bento, MD, Holger Cario, MD, Milen Minkov, MD, PhD, Drorit Neumann, PhD

Blood (2013) 122 (21): 2174.

https://doi.org/10.1182/blood.V122.21.2174.2174

Published: 2013

Journal Articles

JAK2 V617F-Negative and MPL W515K/L-Negative Essential Thrombocythemia: A High Resolution SNP Array Study

Carla AL Assaf, Els Lierman, PhD, Timothy Devos, MD, PhD, Carlos Graux, MD, PhD, Johan Billiet, MD, Peter Vandenberghe, MD, PhD

Blood (2013) 122 (21): 5258.

https://doi.org/10.1182/blood.V122.21.5258.5258

Published: 2013

Journal Articles

A New Mutation Of The ALAS2 Gene In a Chinese Family With X-linked

Rui Cui, MD, Guoqing Zhu, Zefeng Xu, Yue Zhang, MD, Gang Huang, PhD, Zhijian Xiao, MD

Blood (2013) 122 (21): 4674.

https://doi.org/10.1182/blood.V122.21.4674.4674

Published: 2013

Journal Articles

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Alexa Triot, Päivi M Järvinen, Juan I. Arostegui, MD, Tomas Racek, PhD, Jacek Puchalka, Jose Luis Dapena Díaz, MD, Naschla Kohistani, MD, E. Michael Gertz, PhD, Alejandro A. Schäffer, Cristina Díaz de Heredia Rubio, MD, Mehmet A. Ozdemir, MD, Turkan Patiroglu, MD, Musa Karakukcu, MD, José Sanchez de Toledo Codina, MD, Jordi Yagüe, MD, PhD, Ekrem Unal, Christoph Klein, MD PhD

Blood (2013) 122 (21): 1025.

https://doi.org/10.1182/blood.V122.21.1025.1025

Published: 2013

Journal Articles

A Novel EPO Gene Mutation In a Family With Autosomal Dominant Polycythemia

Felipe R Lorenzo V, PhD, Rebecca Margraf, PhD, Sabina Swierczek, PhD, Kimberly Hickman, Karl Voelkerding, MD, Josef Prchal, MD

Blood (2013) 122 (21): 950.

https://doi.org/10.1182/blood.V122.21.950.950

Published: 2013

Journal Articles

Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT): Preliminary Results of an Ongoing Study

Carlo L Balduini, Francesca Bellistri, Fabio Pagella, Francesco Chu, Elina Matti, Giuseppe Spinozzi, Federica Ornati, Cecilia Canzonieri, Carla Olivieri, Cesare Danesino, Marco Benazzo, Rosangela Invernizzi

Blood (2012) 120 (21): 629.

https://doi.org/10.1182/blood.V120.21.629.629

Published: 2012

NARROW

Computational Analysis Model Applied to Spanish Gaucher Registry Data

Hematological Disorders in Human Patients with Son Mutations

Whole Exome Sequencing of Relapsed Double-Mutated CEBPA Acute Myeloid Leukemia Identified Mutated KIT and WNT10A As a Potential Co-Mutation with Negative Impact on Prognosis

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Cathelicidin Antimicrobial Peptide Expression Is Inversely Associated with Absolute Neutrophil Counts in Pediatric HCT Recipients

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Human Hematopoietic Progenitor Cells and Erythrocytes Generated from Human iPSCs Lacking CD55

In Vitro Erythropoietic Response to Enzyme Replacement Therapy in Gaucher Type 1 Patients

The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia

Identification of Novel Mutations with Molecular Modelling of Missense Mutations of Congenital Afibrinogenemia Patients in Pakistan

Genome-Wide Molecular Portrait of Aggressive Systemic Mastocytosis and Mast Cell Leukemia Depicted By Whole Exome Sequencing and Copy Number Variation Analysis

A Dominant Gain-of-Function Mutation in Universal Tyrosine Kinase SRC Causes Enhanced Podosome Formation in a Syndrome with Thrombocytopenia, Myelofibrosis, Bleeding and Bone Pathologies

Analysis of WT1 Mutations and Combined Aberrations in Childhood Acute Myeloid Leukemia using Whole Exome Sequencing

Splenectomy in a Child of X-Linked Thrombocytopenia with Thalassemia and Bone Marrow Fibrosis : Hemoglobin and Platelet Count Were Improved

Polycythemia-Inducing Mutations In The Erythropoietin Receptor (EPOR): Mechanism and Function Elucidated By EGFR– EPOR Chimeras

JAK2 V617F-Negative and MPL W515K/L-Negative Essential Thrombocythemia: A High Resolution SNP Array Study

A New Mutation Of The ALAS2 Gene In a Chinese Family With X-linked

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

A Novel EPO Gene Mutation In a Family With Autosomal Dominant Polycythemia

Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT): Preliminary Results of an Ongoing Study

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American Society of Hematology

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American Society of Hematology

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