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Journal Articles

Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing

Betoul Baz, PhD, Tarek Owaidah, MDFRCPA, Majed Dasouki, MD, Mohammed Abouelhoda, PhD, Dorota Monies, PhD, Nada Al Tassan, PhD

Blood (2019) 134 (Supplement_1): 5776.

https://doi.org/10.1182/blood-2019-122370

Published: 2019

Journal Articles

Novel Pathogenic Genes and Rare Mutations of Congenital Factor V Deficiency: A Case Report

Haixia Guo, MD PhD

Blood (2019) 134 (Supplement_1): 4920.

https://doi.org/10.1182/blood-2019-126350

Published: 2019

Journal Articles

Codanin-1 Mutations Engineered in Human Erythroid Cells Allow Investigation of Mechanisms Underlying Congenital Dyserythropoietic Anemia

Zachary C. Murphy, PhD, Michael Getman, MS, Jacquelyn Lillis, Laurie A. Steiner, MD

Blood (2019) 134 (Supplement_1): 3739.

https://doi.org/10.1182/blood-2019-127415

Published: 2019

Journal Articles

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Molly S. Hein, Lea Coon, MS, LCGC, Tavanna R. Porter, MS, LCGC, Rong He, MD, Michelle E. Savedra, MT(ASCP), Laura J. Train, BS, Linnea M. Baudhuin, PhD, Andre M. Oliveira, MD PhD, Phuong L. Nguyen, MD, James D. Hoyer, MD, Aruna Rangan, MD, Jennifer L. Oliveira, MD

Blood (2019) 134 (Supplement_1): 2228.

https://doi.org/10.1182/blood-2019-125691

Published: 2019

Journal Articles

RASA3 Is Essential for Early Mammalian Hematopoiesis and Modulates ERK Signaling in Terminal Erythropoiesis

Elena C. Brindley, BS, Raymond F. Robledo, PhD, Steven L. Ciciotte, MS, Joel H. Graber, PhD, Yue Zhao, Emily Hartman, BS, Julien Papoin, MS, Lionel Blanc, PhD, Luanne L. Peters, PhD

Blood (2019) 134 (Supplement_1): 3505.

https://doi.org/10.1182/blood-2019-130328

Published: 2019

Journal Articles

Detection and Differential Diagnosis of Prekallikrein Deficiency: Genetic Study of New Families and Systematic Review of the Literature

Stefano Barco, Stefanie Sollfrank, Alice Trinchero, Luigi Tomao, Barbara Zieger, Johanna A. Kremer Hovinga, MD Prof, Laura Conti, Anke Adenäuer, Erwin Miloni, Karl J. Lackner, Heidi Rossmann, Bernhard Lammle, MD

Blood (2018) 132 (Supplement 1): 2496.

https://doi.org/10.1182/blood-2018-99-116030

Published: 2018

Journal Articles

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Arnaud Dupuis, PhD, Doris Böckelmann, PhD, Patricia Laeuffer, Katharina Neubauer, PhD, Christian Gachet, MD PhD, Barbara Zieger

Blood (2018) 132 (Supplement 1): 1154.

https://doi.org/10.1182/blood-2018-99-112833

Published: 2018

Journal Articles

Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1

Suthesh Sivapalaratnam, MD PhD, Hayman Melissa, PhD, Claire Lentaigne, BSc, MB, MRCP, Melissa Chan, PhD, Marilena Crescente, PhD, Harriet Allan, Katherine Wedderburn, Moghees Hanif, Ernest Turro, PhD, Dan P Hart, PhD MBBChir, FRCPath, FRCP, Kathleen Freson, PhD, Kate Downes, PhD, NIHR Bioresource, Willem Ouwehand, MDPhD, Michael Laffan, DM, FRCP, FRCPath, Tim Warner, PhD

Blood (2018) 132 (Supplement 1): 1156.

https://doi.org/10.1182/blood-2018-99-118958

Published: 2018

Journal Articles

A Unique Case of Type 3 Von Willebrand Disease

Mamatha Mandava, MD, John Lazarchick, MD, Emily Curl, Shayla Bergmann, MD

Blood (2018) 132 (Supplement 1): 5031.

https://doi.org/10.1182/blood-2018-99-112976

Published: 2018

Journal Articles

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Blood (2018) 132 (17): 1851–1854.

https://doi.org/10.1182/blood-2018-04-845545

Published: 2018

Includes: Supplemental data

Journal Articles

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Blood (2017) 129 (4): 520–524.

https://doi.org/10.1182/blood-2016-08-732248

Published: 2017

Includes: Supplemental data

Journal Articles

An Autosomal-Recessive GFI1B Mutation Defines the Splice Isoform p37 As Essential for Biogenesis of Functional Human Platelets, but Dispensable for Erythropoiesis

Harald Schulze, PhD, Axel Schlagenhauf, PhD, Georgi Manukjan, PhD, Christine Beham-Schmid, MD, Oliver Andres, MD, Eva Klopocki, PhD, Eva-Maria König, Harald Haidl, MD, Simon Panzer, MD, Karina Althaus, MD, Wolfgang Muntean, MD, Wolfgang Schwinger, MD, Christian E. Urban, MD, Andreas Greinacher, MD, Tamam Bakchoul, MD, Markus Seidel, MD

Blood (2016) 128 (22): 2644.

https://doi.org/10.1182/blood.V128.22.2644.2644

Published: 2016

Journal Articles

Type 3 Von Willebrand Disease: A Case Report of a Rare Entity

Stephanie Phillips, DO, John Lazarchick, MD, Shayla Bergmann, MD

Blood (2016) 128 (22): 4988.

https://doi.org/10.1182/blood.V128.22.4988.4988

Published: 2016

Journal Articles

Safety and Efficacy of Recombinant Factor XIII (FXIII) in Patients with Congenital FXIII A-Subunit Deficiency, Results from the Mentor™2 Trial

Manuel Carcao, Carmen Altisent, PhD, Giancarlo Castaman, Katsuyuki Fukutake, MD PhD, Aida Inbal, MD, Bryce A. Kerlin, Craig M. Kessler, MD, Riitta Lassila, MD PhD, Johannes Oldenburg, Prof, Anders Rosholm, May-Lill Garly, MD PhD, Diane J. Nugent, MD

Blood (2016) 128 (22): 2573.

https://doi.org/10.1182/blood.V128.22.2573.2573

Published: 2016

Journal Articles

Molecular Basis of Von Willebrand Disease in Patients from India

Sumitha Elayaperumal, M.Sc, Eunice Sindhuvi Edison, PhD, Sankari Devi Govindanattar, B.Sc, Surendar Singh, B.Sc, Aby Abraham, MD DM, Biju George, DM, Auro Viswabandya, MD DM, Sukesh Nair, MD FRCPA, Alok Srivastava, MD FRACP

Blood (2015) 126 (23): 1102.

https://doi.org/10.1182/blood.V126.23.1102.1102

Published: 2015

Journal Articles

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

Blood (2015) 126 (23): 3337.

https://doi.org/10.1182/blood.V126.23.3337.3337

Published: 2015

Journal Articles

Autosomal Recessive Inherited Bleeding Disorders in Pakistan, a Cross Sectional Study from Selected Regions

Arshi Naz, MSc.PhD, Mohammad younus Jamal, M.B;B.S, PhD, Samina Tufail Amanat, FCPS, MB, BS, Humayun Patel, MSc., Akbar Agha, M.B;B.S, fazal-E- Razik, Nisar Ahmed, FCPS haematology, Ayisha Imran, M.B;B.S, FCPS haematology, Tahir Shamsi, MBBS, MRCPath,FRCPath

Blood (2015) 126 (23): 4708.

https://doi.org/10.1182/blood.V126.23.4708.4708

Published: 2015

Journal Articles

Characterization of Phenotypic Expression of Inherited Fibrinogen Coagulopathy in Pakistani Index Patients

Arshi Naz, MSc.PhD, Tehmina nafees sonia Khan, M.B;B.S ,PhD, Noman A Malik, M.B.B.S. (Pb) , M. Phil., Shahla Tariq, M.B;B.S, Nazish Saqlain, FCPS haematology, Tahir Shamsi, MBBS, MRCPath,FRCPath

Blood (2015) 126 (23): 4667.

https://doi.org/10.1182/blood.V126.23.4667.4667

Published: 2015

Journal Articles

SEC23A Functionally Compensates for SEC23B Deficiency in Mice

Rami Khoriaty, MD, Lesley Everett, BS, MPhil, Jennifer Chase, Guojing Zhu, Bin Zhang, PhD, Mark Hoenerhoff, DVM, PhD DACVP, Ivan Maillard, MD PhD, David Ginsburg, MD

Blood (2015) 126 (23): 935.

https://doi.org/10.1182/blood.V126.23.935.935

Published: 2015

Journal Articles

Mpl Gain-of-Function Mutations Can be Classified By Differential Subcellular Processing, Molecular Mechanisms, Mode of Inheritance and Clinical Impact

Clemens Stockklausner, MD, Christin Maria Duffert, Ziwei Zhou, Anne Christine Klotter, Isabelle Nadine Kuhlee, Andreas E Kulozik, MDPhD

Blood (2015) 126 (23): 1634.

https://doi.org/10.1182/blood.V126.23.1634.1634

Published: 2015

NARROW

Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing

Novel Pathogenic Genes and Rare Mutations of Congenital Factor V Deficiency: A Case Report

Codanin-1 Mutations Engineered in Human Erythroid Cells Allow Investigation of Mechanisms Underlying Congenital Dyserythropoietic Anemia

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

RASA3 Is Essential for Early Mammalian Hematopoiesis and Modulates ERK Signaling in Terminal Erythropoiesis

Detection and Differential Diagnosis of Prekallikrein Deficiency: Genetic Study of New Families and Systematic Review of the Literature

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1

A Unique Case of Type 3 Von Willebrand Disease

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

An Autosomal-Recessive GFI1B Mutation Defines the Splice Isoform p37 As Essential for Biogenesis of Functional Human Platelets, but Dispensable for Erythropoiesis

Type 3 Von Willebrand Disease: A Case Report of a Rare Entity

Safety and Efficacy of Recombinant Factor XIII (FXIII) in Patients with Congenital FXIII A-Subunit Deficiency, Results from the Mentor™2 Trial

Molecular Basis of Von Willebrand Disease in Patients from India

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

Autosomal Recessive Inherited Bleeding Disorders in Pakistan, a Cross Sectional Study from Selected Regions

Characterization of Phenotypic Expression of Inherited Fibrinogen Coagulopathy in Pakistani Index Patients

SEC23A Functionally Compensates for SEC23B Deficiency in Mice

Mpl Gain-of-Function Mutations Can be Classified By Differential Subcellular Processing, Molecular Mechanisms, Mode of Inheritance and Clinical Impact

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American Society of Hematology

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ASH Publications

American Society of Hematology

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