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Journal Articles

The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene

Zhaohui Liao Arter, MD, Caitlin Yatogo, MS, CGC, Michael C. Chicka, PhD, Jeffrey L. Berenberg, MD

Blood (2019) 134 (Supplement_1): 2380.

https://doi.org/10.1182/blood-2019-122384

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

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

Phenotypes of Hb Okayama Mutation

Rudra Ray, PhD MSc, Ankita Biswas, Msc, Sunistha Bhattacharjee, Msc, Maitreyee Bhattacharyya, DM

Blood (2018) 132 (Supplement 1): 4898.

https://doi.org/10.1182/blood-2018-99-118079

Published: 2018

Journal Articles

Gene Heterogenicity Diagnosis on Children with Complicated Immunological and Hematological Abnormalities

Chunfu Li, MD, Haixia Guo, MD PhD

Blood (2017) 130 (Supplement 1): 4946.

https://doi.org/10.1182/blood.V130.Suppl_1.4946.4946

Published: 2017

Journal Articles

Retrospective Analysis of the HB A2 Value in Sickle Cell Positive Population in Central Gujarat, India

Seema S. Bhatwadekar, MD, Parth Shah, MD, Sandip Shah, MD, Harsukh Toprani, MD, Bijal Shah, MBBS,DCP, Devenkumar Desai, MBBS DCP, Bhagvanji B Zanzarukiya, MD, Tejas S Patel, MD, Tushar Toprani, MD

Blood (2017) 130 (Supplement 1): 4789.

https://doi.org/10.1182/blood.V130.Suppl_1.4789.4789

Published: 2017

Journal Articles

Identification of a Digenic Inheritance of Pklr and KLF1 Mutations Resulting in Hemolytic Anemia in a Neonate from a Study of Genotype-Phenotype Correlation of Globin, Pklr and KLF1 in Thai Patients with Pyruvate Kinase (PK) Deficiency

Supachai Ekwattanakit, BSc, PhD MD, Suchada Riolueang, M.Sc., Kalaya Tachavanich, Hitoshi Kanno, MDPhD, Vip Viprakasit, MD DPhil, Thidarat Suksangpleng, PhD, Vorravarn S Tanphaichitr

Blood (2017) 130 (Supplement 1): 3477.

https://doi.org/10.1182/blood.V130.Suppl_1.3477.3477

Published: 2017

Journal Articles

Multi-Omics Evidence for Inheritance of Energy Pathways in Red Blood Cells

Erin M Weisenhorn, Thomas Raife, MD, Thomas J van't Erve, Nicholas M Riley, John Hess, Joshua J Coon

Blood (2016) 128 (22): 3838.

https://doi.org/10.1182/blood.V128.22.3838.3838

Published: 2016

Journal Articles

Whole Genome Sequencing of 10,000 Rare Disease Patients Reveals Digenic Inheritance of Blood Disorders

Ernest Turro, PhD, Nihr BioResource

Blood (2016) 128 (22): 2540.

https://doi.org/10.1182/blood.V128.22.2540.2540

Published: 2016

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

Journal Articles

Telomere Dysfunction-Induced DNA Damage Drives Hematopoietic Stem Cell Fate

Matteo Marchesini, PhD, Yamini Ogoti, Irene Ganan-Gomez, PhD MSc, Yue Wei, PhD, Carlos E. Bueso-Ramos, Guillermo Garcia-Manero, MD, Ronald A. DePinho, Simona Colla, PhD

Blood (2015) 126 (23): 1156.

https://doi.org/10.1182/blood.V126.23.1156.1156

Published: 2015

Journal Articles

Triallelic and epigenetic-like inheritance in human disorders of telomerase

Laura C. Collopy, Amanda J. Walne, Shirleny Cardoso, Josu de la Fuente, Mahfuzah Mohamed, Helga Toriello, Hannah Tamary, Adam J. Y. V. Ling, Timothy Lloyd, Rebecca Kassam, Hemanth Tummala, Thomas J. Vulliamy, Inderjeet Dokal

Blood (2015) 126 (2): 176–184.

https://doi.org/10.1182/blood-2015-03-633388

Published: 2015

Includes: Supplemental data

Journal Articles

A New Approach to Identify Pathogenic Mutations and Inherited Variants By Exome Sequencing – Using a Pair of Identical Twins with Monoclonal Lymphosis As Case Model

Marcus Celik Hansen, MSc in Biomedical Engineering, Charlotte Guldborg Nyvold, MSc, PhD, Anne Stidsholt Roug, MD PhD, Line Nederby, MSc, PhD, Peter Hokland, MD DMSc

Blood (2014) 124 (21): 1979.

https://doi.org/10.1182/blood.V124.21.1979.1979

Published: 2014

Journal Articles

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

Kejian Zhang, Shanmuganathan Chandrakasan, Heather Chapman, C. Alexander Valencia, Ammar Husami, Diane Kissell, Judith A. Johnson, Alexandra H. Filipovich

Blood (2014) 124 (8): 1331–1334.

https://doi.org/10.1182/blood-2014-05-573105

Published: 2014

Journal Articles

A Novel Case of Co-Inheritance of Rare Hemoglobin Variant; Hb Rancho Mirage [βCd 143 (CAC→GAC) His→Asp] with Hb D-Punjab

Eiman A. Al Zaabi, MBBS, FRCPC, Amira Mahmoud, MBBCh, MSc, MD, Erol Baysal, PhD (Lond), FRCP (Lond), David G. Spence, BSc, MB, CHB, FRCP, FRCPath

Blood (2012) 120 (21): 4759.

https://doi.org/10.1182/blood.V120.21.4759.4759

Published: 2012

Journal Articles

Decoding the Chromatin Code

Peter A. Jones, PhD, DSc

Blood (2012) 120 (21): SCI-4.

https://doi.org/10.1182/blood.V120.21.SCI-4.SCI-4

Published: 2012

Journal Articles

In Vitro Characterization of R14W Mutation in SEC23B , the CDAII Causative Gene

Maria Rosaria Esposito, Roberta Russo, Annaelena Troiano, Immacolata Andolfo, Roberta Asci, Achille Iolascon, MD, PhD

Blood (2011) 118 (21): 2098.

https://doi.org/10.1182/blood.V118.21.2098.2098

Published: 2011

Journal Articles

Co-Inheritance of Delta Thalassemia Might Contribute to the High Fetal Hemoglobin in Sickle Cell Anemia Patients with the Saudi-Indian Haplotype

Abdulrahman Alsultan, MD, Duyen A. Ngo, MD, John J. Farrell, MS, Hazem Ghabbour, Idowu Akinsheye, PhD, Amein Al-Ali, PhD, Ahmed Alsuliman, MD, Muneer Al-Baghshi, MD, Waleed Albuali, MD, Mohammed Alabdulaali, MD, Paola Sebastiani, PhD, Clinton T. Baldwin, PhD, David H.K. Chui, MD, Martin H. Steinberg, MD

Blood (2011) 118 (21): 1056.

https://doi.org/10.1182/blood.V118.21.1056.1056

Published: 2011

Journal Articles

Platelet CD36 surface expression levels affect functional responses to oxidized LDL and are associated with inheritance of specific genetic polymorphisms

Arunima Ghosh, Gurunathan Murugesan, Kan Chen, Li Zhang, Qing Wang, Maria Febbraio, Rita Marie Anselmo, Kandice Marchant, John Barnard, Roy L. Silverstein

Blood (2011) 117 (23): 6355–6366.

https://doi.org/10.1182/blood-2011-02-338582

Published: 2011

Includes: Supplemental data

Journal Articles

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Blood (2010) 116 (23): 4990–5001.

https://doi.org/10.1182/blood-2010-05-286534

Published: 2010

Includes: Supplemental data

NARROW

The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene

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

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Phenotypes of Hb Okayama Mutation

Gene Heterogenicity Diagnosis on Children with Complicated Immunological and Hematological Abnormalities

Retrospective Analysis of the HB A2 Value in Sickle Cell Positive Population in Central Gujarat, India

Identification of a Digenic Inheritance of Pklr and KLF1 Mutations Resulting in Hemolytic Anemia in a Neonate from a Study of Genotype-Phenotype Correlation of Globin, Pklr and KLF1 in Thai Patients with Pyruvate Kinase (PK) Deficiency

Multi-Omics Evidence for Inheritance of Energy Pathways in Red Blood Cells

Whole Genome Sequencing of 10,000 Rare Disease Patients Reveals Digenic Inheritance of Blood Disorders

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

Telomere Dysfunction-Induced DNA Damage Drives Hematopoietic Stem Cell Fate

Triallelic and epigenetic-like inheritance in human disorders of telomerase

A New Approach to Identify Pathogenic Mutations and Inherited Variants By Exome Sequencing – Using a Pair of Identical Twins with Monoclonal Lymphosis As Case Model

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

A Novel Case of Co-Inheritance of Rare Hemoglobin Variant; Hb Rancho Mirage [βCd 143 (CAC→GAC) His→Asp] with Hb D-Punjab

Decoding the Chromatin Code

In Vitro Characterization of R14W Mutation in SEC23B , the CDAII Causative Gene

Co-Inheritance of Delta Thalassemia Might Contribute to the High Fetal Hemoglobin in Sickle Cell Anemia Patients with the Saudi-Indian Haplotype

Platelet CD36 surface expression levels affect functional responses to oxidized LDL and are associated with inheritance of specific genetic polymorphisms

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

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American Society of Hematology

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