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Journal Articles

TLR8 gain of function: a tall surprise

Bertrand Boisson, Jean-Laurent Casanova

Blood (2021) 137 (18): 2420–2422.

https://doi.org/10.1182/blood.2020010463

Published: 2021

Journal Articles

Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum

Yvonne Daniel, PhD, Julia Van Campen, PhD, Lee Silcock, Michael Yau, PhD, Joo Wook Ahn, PhD, Caroline Ogilvie, PhD, Kathy Mann, PhD, Eugene Oteng-Ntim, MD PhD

Blood (2019) 134 (Supplement_1): 2085.

https://doi.org/10.1182/blood-2019-127945

Published: 2019

Journal Articles

Sickle-Cell Disease in Greece: Patient Reported Outcomes Related to Clinical Complications, Treatment Choices and Attitudes, Beliefs and Trends Affecting Potential Participation in Clinical Trials - a Greek National Multicentric Study

Sophia Delicou, Michael D. Diamantidis, MD PhD MSc, Konstantinos Manganas, Eftychios Eftychiadis, MD, Despoina Pantelidou, MD PhD, Alexandra Kourakli, MD PhD, Efthymia Vlachaki, MBBS, Loukia Evliati, Ioannis Lafiatis, Evangelos Klironomos, MD, Dimitra Kyriakopoulou, MD, Aikaterini Xydaki, Vassiliki Bartzi, Despoina Papadopoulou, Vasileios Lazaris, Chrysoula Apostolou, Antonis Kattamis, Argiris Symeonidis, MD PhD

Blood (2019) 134 (Supplement_1): 4838.

https://doi.org/10.1182/blood-2019-127966

Published: 2019

Journal Articles

Strategies for Analysis of Novel Molecular Variants in the RUNX1 Gene As a Cause of Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML)

Veronica Palma-Barqueros, MSc, Jf Ruiz-Pividal, MSc, Jose Maria Bastida, MD PhD, Natalia Bohdan, MJ Lopez-Andreu, PhD, Raul Teruel-Montoya, PhD, Ana Isabel Antón, PhD, Francisca Ferrer Marin, MD PhD, Jose Padilla, Rosa Cifuentes-Riquelme, A Marín-Quilez, MSc, Marta Martín Izquierdo, MSc, Rocio Benito, PhD, Vicente Vicente, MD PhD, Jesus Maria . Hernández-Rivas, MD, José Ramón González-Porras, MD PhD, Jose Rivera, PhD, Maria Luisa Lozano, MD PhD

Blood (2019) 134 (Supplement_1): 2359.

https://doi.org/10.1182/blood-2019-128736

Published: 2019

Journal Articles

The Inherited Platelet Disorder of RUNX1 Haploinsufficiency (Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)) Has a Marked Deficiency of Megakaryocyte-Biased Hematopoietic Progenitor Cells: Mechanistic Studies and Drug Correction

Brian Estevez, PhD, Sara Borst, BS, Danuta Jadwiga Jarocha, PhD, Varun Sudunagunta, Michael Gonzalez, PhD, Peng Gao, Kai Tan, Deborah L French, PhD, Paul Gadue, PhD, Mortimer Poncz, MD

Blood (2019) 134 (Supplement_1): 220.

https://doi.org/10.1182/blood-2019-124851

Published: 2019

Journal Articles

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

Usua Oyarbide Cuervas-Mons, PhD MSc, BSc, Matthew Snyderman, MSc, Jacek Topczewski, PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 3737.

https://doi.org/10.1182/blood-2019-129014

Published: 2019

Journal Articles

MPO as a Novel Susceptibility Gene in Myeloid Malignancies

Samuel Li, BA, Ruipeng Wei, Janet Wang, Undergraduate, Vera Adema, PhD, Teodora Kuzmanovic, BA, Bartlomiej P. Przychodzen, Yasunobu Nagata, MD PhD, Cassandra M Kerr, MS, Babal K. Jha, PhD, Francesc Sole, PhD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD, Thomas Laframboise, PhD

Blood (2019) 134 (Supplement_1): 5402.

https://doi.org/10.1182/blood-2019-122127

Published: 2019

Journal Articles

ANKRD26 Coding Variants Presenting with Giant Platelets and a Predisposition to Myeloid Neoplasia

Teodora Kuzmanovic, Bhumika J. Patel, MD, Jibran Durrani, Hassan Awada, MD, Cassandra M Kerr, MS, Bartlomiej P. Przychodzen, Samuel Li, BA, Seth J. Corey, MD, Sudipto Mukherjee, MD PhD MPH, Anjali S. Advani, MD, Aziz Nazha, MD, Aaron T. Gerds, MD MS, Hetty E. Carraway, MD MBA, Thomas Laframboise, PhD, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 4233.

https://doi.org/10.1182/blood-2019-130520

Published: 2019

Journal Articles

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Anthony Cutts, Dimitrios V. Vavoulis, Mary Petrou, Frances Smith, Barnaby Clark, Shirley Henderson, Anna Schuh

Blood (2019) 134 (14): 1190–1193.

https://doi.org/10.1182/blood.2019002099

Published: 2019

Includes: Supplemental data

Journal Articles

Type 1 Gaucher Disease Severity and Risk for Liver Fibrosis in Untreated Patients and in Patients Treated Primarily with Enzyme Replacement Therapy for a Median of 20 Years

Neal J Weinreb, MD, Robert A Ali, MD

Blood (2018) 132 (Supplement 1): 2403.

https://doi.org/10.1182/blood-2018-99-117215

Published: 2018

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

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

Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in Human Hematopoietic Progenitors and Stem Cells for the Gene Therapy of Pyruvate Kinase Deficiency

Oscar Quintana Bustamante, PhD, Sara Fañanas-Baquero, Daniel P. Dever, PhD, Alberquilla Omaira, Joab Camarena, BS, Rebeca Sanchez-Dominguez, PhD, Matias Morin, Val Fernandez, Miguel Angel Moreno-Pelayo, Juan A. Bueren, PhD, Matthew Porteus, MD PhD, Jose C Segovia, PhD

Blood (2018) 132 (Supplement 1): 5792.

https://doi.org/10.1182/blood-2018-99-111772

Published: 2018

Journal Articles

Plasma Derived FXIII Prophylaxis in Two Patients with Congenital FXIII Deficiency. Mexican Experience

Mara Toscano, MD

Blood (2018) 132 (Supplement 1): 5030.

https://doi.org/10.1182/blood-2018-99-119983

Published: 2018

Journal Articles

Assessment of Sickle Cell Disease Pain Management in the Whittington Hospital Emergency Department

Leena Al Shaman, MD, Layan Akkielah, MD, Katharine Orf, MBBS, Jonathan Massie, MA, MBBS, Jiexin Zheng, MA, MBBS, MRCP, Farrukh Shah

Blood (2018) 132 (Supplement 1): 5822.

https://doi.org/10.1182/blood-2018-99-109768

Published: 2018

Journal Articles

Human Plasminogen Replacement Therapy Vs. Best Supportive Care in Patients with Congenital Plasminogen Deficiency: A Comparison of Health Care Resource Use over a 48-Week Period

George Dranitsaris, PhD, Amparo Santamaria Ortiz, MD, Kristine Dorward, MBA, Hande Kizilocak, PhD, Tiraje Celkan, MD

Blood (2018) 132 (Supplement 1): 2232.

https://doi.org/10.1182/blood-2018-99-117184

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

Jordans anomaly

Daniel Winokur, William LiPera

Blood (2018) 131 (7): 837.

https://doi.org/10.1182/blood-2017-10-812677

Published: 2018

Journal Articles

The Activated TGFβ Pathway in Shwachman Diamond Syndrome Impairs Hematopoiesis and Is Down-Regulated By Deletion of 7q

Melisa Ruiz-Gutierrez, MD PhD, Cailin Joyce, PhD, Ozge Vargel Bolukbasi, PhD, Andriana Kotini, PhD, Gabriela Alexe, Jennifer Whangbo, MD PhD, David Russell, MDPhD, Kimberly Stegmaier, MD, Carl D. Novina, MD PhD, Eirini P. Papapetrou, MD PhD, Akiko Shimamura, MD

Blood (2017) 130 (Supplement 1): 875.

https://doi.org/10.1182/blood.V130.Suppl_1.875.875

Published: 2017

Journal Articles

Attenuated Protein Synthesis Drives the Hematopoietic Defects in Shwachman-Diamond Syndrome

Pekka Jaako, PhD, Chi C Wong, PhD MD, David Adams, PhD, Alan J. Warren, PhD FRCP, FRCPath

Blood (2017) 130 (Supplement 1): 876.

https://doi.org/10.1182/blood.V130.Suppl_1.876.876

Published: 2017

NARROW

TLR8 gain of function: a tall surprise

Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum

Sickle-Cell Disease in Greece: Patient Reported Outcomes Related to Clinical Complications, Treatment Choices and Attitudes, Beliefs and Trends Affecting Potential Participation in Clinical Trials - a Greek National Multicentric Study

Strategies for Analysis of Novel Molecular Variants in the RUNX1 Gene As a Cause of Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML)

The Inherited Platelet Disorder of RUNX1 Haploinsufficiency (Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)) Has a Marked Deficiency of Megakaryocyte-Biased Hematopoietic Progenitor Cells: Mechanistic Studies and Drug Correction

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

MPO as a Novel Susceptibility Gene in Myeloid Malignancies

ANKRD26 Coding Variants Presenting with Giant Platelets and a Predisposition to Myeloid Neoplasia

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Type 1 Gaucher Disease Severity and Risk for Liver Fibrosis in Untreated Patients and in Patients Treated Primarily with Enzyme Replacement Therapy for a Median of 20 Years

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

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

Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in Human Hematopoietic Progenitors and Stem Cells for the Gene Therapy of Pyruvate Kinase Deficiency

Plasma Derived FXIII Prophylaxis in Two Patients with Congenital FXIII Deficiency. Mexican Experience

Assessment of Sickle Cell Disease Pain Management in the Whittington Hospital Emergency Department

Human Plasminogen Replacement Therapy Vs. Best Supportive Care in Patients with Congenital Plasminogen Deficiency: A Comparison of Health Care Resource Use over a 48-Week Period

Identification of APP As a Novel Candidate Familial Eosinophilia Predisposition Gene

Jordans anomaly

The Activated TGFβ Pathway in Shwachman Diamond Syndrome Impairs Hematopoiesis and Is Down-Regulated By Deletion of 7q

Attenuated Protein Synthesis Drives the Hematopoietic Defects in Shwachman-Diamond Syndrome

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American Society of Hematology

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ASH Publications

American Society of Hematology

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