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Journal Articles

Terminal Erythroid Maturation Is Associated with Dynamic Changes in the Abundance of Histone Marks Associated with Active Transcription Elongation and RNA Polymerase II Pausing

Zachary C. Murphy, PhD, Tyler A Couch, BS, Jacquelyn Lillis, MS, Michael Getman, MS, Kimberly Lezon-Geyda, PhD, Vincent P Schulz, PhD, Mohandas Narla, DSc, Patrick G. Gallagher, MD, Laurie A. Steiner, MD

Blood (2019) 134 (Supplement_1): 154.

https://doi.org/10.1182/blood-2019-129561

Published: 2019

Journal Articles

Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations

Kimberly Lezon-Geyda, PhD, Melissa J. Rose, DO, Melissa A. McNaull, MD, Christine M. Knoll, MD, Hassan M. Yaish, MD, Yves D. Pastore, MD, Elisa Fermi, Bertil Glader, MD, Paola Bianchi, BSc, PhD, Rachael F. Grace, MD, Patrick G. Gallagher, MD

Blood (2018) 132 (Supplement 1): 3607.

https://doi.org/10.1182/blood-2018-99-117805

Published: 2018

Journal Articles

Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia

Kimberly Lezon-Geyda, PhD, Vincent P Schulz, PhD, Yelena Maksimova, MS, Patrick G. Gallagher, MD

Blood (2018) 132 (Supplement 1): 503.

https://doi.org/10.1182/blood-2018-99-117752

Published: 2018

Journal Articles

MRTFA Augments Megakaryocyte Maturation By Enhancing the SRF Regulatory Axis

Nur-Taz Rahman, BS, MPhil, Vincent P Schulz, PhD, Lin Wang, MS, Patrick G. Gallagher, MD, Oleg Denisenko, PhD, Francesco Gualdrini, PhD, Esnault Cyril, PhD, Diane S. Krause, MD PhD

Blood (2018) 132 (Supplement 1): 640.

https://doi.org/10.1182/blood-2018-99-118954

Published: 2018

Journal Articles

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Paola Bianchi, BSc, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, Richard van Wijk, PhD, Eduard J. Van Beers, MD, Hassan M. Yaish, MD, Janet L. Kwiatkowski, MD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Oliver Andres, MD, Wilma Barcellini, MD, D. Holmes Morton, MD, Bertil Glader, MD, Stefan W. Eber, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Kevin H.M. Kuo, MD MSc, FRCPC, Dagmar Pospisilova, Prof. MD PhD, Yves D. Pastore, MD, Alexis A Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa N. McNaull, MD, Gabrielle P. Ooyama, Nolan Neu, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD

Blood (2017) 130 (Supplement 1): 3479.

https://doi.org/10.1182/blood.V130.Suppl_1.3479.3479

Published: 2017

Journal Articles

Pomalidomide Transcriptionally Reprograms Adult Erythroid Progenitors Independently of Ikaros Proteasomal Degradation

Brian M. Dulmovits, MS, Abena O. Appiah-Kubi, MD, Julien Papoin, MS, John Hale, PhD, Mingzhu He, PhD, Yousef Al-Abed, MD, Steven L. Allen, MD, Naomi Taylor, MD PhD, Philippe Marambaud, PhD, Xiuli An, MD PhD, Patrick G. Gallagher, MD, Narla Mohandas, DSc, Jeffrey M. Lipton, MD PhD, Johnson M. Liu, MD, Lionel Blanc, PhD

Blood (2015) 126 (23): 160.

https://doi.org/10.1182/blood.V126.23.160.160

Published: 2015

Journal Articles

The Histone Methyltransferase Setd8 Is Essential for Mammalian Erythropoiesis

Jeffrey Malik, PhD, Michael Getman, MS, Jacquelyn Lillis, MS, Patrick G. Gallagher, MD, Laurie A Steiner, MD

Blood (2015) 126 (23): 3577.

https://doi.org/10.1182/blood.V126.23.3577.3577

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

Identification of a Novel SLC40A1 Arg88Ile Mutation in a Patient with Familial Iron Overload Treated By Phlebotomy

Jerome Seid, MD, Larisa Lozovatsky, MS, Patrick G. Gallagher, MD, Karin E Finberg, MD PhD

Blood (2015) 126 (23): 954.

https://doi.org/10.1182/blood.V126.23.954.954

Published: 2015

Journal Articles

The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype

Mary A Risinger, PhD, Edyta Glogowska, PhD, Amber Hogart Begtrup, PhD, Neha Dagaonkar, Satheesh Chonat, MD, Clinton H Joiner, MD PhD, Charles T. Quinn, MD, Theodosia A. Kalfa, MD PhD, Patrick G Gallagher, MD

Blood (2014) 124 (21): 741.

https://doi.org/10.1182/blood.V124.21.741.741

Published: 2014

Journal Articles

Severe Alpha-Spectrin Linked Recessive Hereditary Spherocytosis

Kimberly Lezon-Geyda, PhD, Yelena Maksimova, MS, Vincent P Schulz, PhD, Bernard G Forget, MD, Patrick G Gallagher, MD

Blood (2014) 124 (21): 4011.

https://doi.org/10.1182/blood.V124.21.4011.4011

Published: 2014

Journal Articles

Pomalidomide Modulates Transcription Networks Regulating Human Erythropoiesis and Globin Switching: Implications for Treatment of Hemoglobinopathies

Brian M. Dulmovits, MS, Abena O. Appiah-Kubi, MD, Julien Papoin, MS, Michael Gould, BA, Xiuli An, MD PhD, Narla Mohandas, D.Sc., Patrick G. Gallagher, MD, Jeffrey M. Lipton, MD PhD, Johnson M. Liu, MD, Lionel Blanc, PhD

Blood (2014) 124 (21): 1375.

https://doi.org/10.1182/blood.V124.21.1375.1375

Published: 2014

Journal Articles

Codanin-1 Binds to Key Erythroid Genes and Its Knockdown Coupled with Ectopic Mutant Expression Recapitulates the Congenital Dyserythropoietic Anemia Type I (CDA I) Phenotype

Linette Bosques, Caroline Tang, MD, Diane Krause, MD PhD, Sherman M. Weissman, MD, Patrick G Gallagher, MD, Mitchell J. Weiss, MD PhD, Hannah Tamary, MD, Gary M. Kupfer, MD

Blood (2014) 124 (21): 360.

https://doi.org/10.1182/blood.V124.21.360.360

Published: 2014

Journal Articles

Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (–AA) β 0 -Thalassemia Mutation

Zhihua Jiang, PhD, Shengwen Huang, MD PhD, Hong Yuan Luo, MB, PhD, Nejat Akar, MD, A.Nazli Basak, MD, Nasir Al-Allawi, MD PhD, Sule Unal, MD, Fatma Gumruk, MDProf, Lance Davis, MD, Tasha Morrison, MPH,BA, Andrew Campbell, MD, Patrick G. Gallagher, MD, Bernard G Forget, MD, Martin H. Steinberg, MD, David H.K. Chui, MD

Blood (2014) 124 (21): 2690.

https://doi.org/10.1182/blood.V124.21.2690.2690

Published: 2014

Journal Articles

Patients Homozygous For Codon 8 (–AA) Frame-Shift β 0 -Thalassemia Mutation With Markedly Increased HbF

Zhihua Jiang, PhD, Hong-yuan Luo, MB, PhD, Nasir Al-Allawi, MD, PhD, Sule Unal, MD, Fatma Gumruk, MD, Leonor Osorio-Almeida, PhD, Lance Davis, MD, Tasha Morrison, MPH, Andrew D. Campbell, MD, Martin H. Steinberg, MD, Patrick G Gallagher, MD, Bernard G. Forget, MD, David H.K. Chui, MD

Blood (2013) 122 (21): 3455.

https://doi.org/10.1182/blood.V122.21.3455.3455

Published: 2013

Journal Articles

The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis

Vincent P Schulz, PhD, Yelena Maksimova, MS, Kimberly Lezon-Geyda, PhD, Patrick G Gallagher, MD

Blood (2013) 122 (21): 3419.

https://doi.org/10.1182/blood.V122.21.3419.3419

Published: 2013

Journal Articles

Enhancers and Super Enhancers Are Associated With Genes That Control Phenotypic Traits In Primary Human Erythroid Cells

Vincent P Schulz, PhD, Kimberly Lezon-Geyda, PhD, Yelena Maksimova, MS, Patrick G Gallagher, MD

Blood (2013) 122 (21): 1200.

https://doi.org/10.1182/blood.V122.21.1200.1200

Published: 2013

Journal Articles

Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia

Mammen Puliyel, M.B., B.S., Patrick G. Gallagher, MD, Vasilios Berdoukas, MBBS, Bertil Glader, MD, PhD, Thomas Coates, MD

Blood (2013) 122 (21): 947.

https://doi.org/10.1182/blood.V122.21.947.947

Published: 2013

Journal Articles

Severe Impairment of γ-Globin Gene Silencing in an Asymptomatic Adult Patient Homozygous for the Codon 8 (–AA) Frame-Shift β 0 -Thalassemia Mutation

Andrew Campbell, MD, Hong-yuan Luo, Katherine Benson, Lance Davis, Patrick G. Gallagher, MD, Martin H. Steinberg, MD, Peter Fraser, PhD, Bernard G. Forget, MD, David H.K. Chui, MD

Blood (2012) 120 (21): 1022.

https://doi.org/10.1182/blood.V120.21.1022.1022

Published: 2012

Journal Articles

Identification of Biologicaly Relevant Enhancers in Human Erythroid Cells

Mack Su, Laurie A Steiner, MD, Hannah Bogardus, Vincent P Schulz, Ross C Hardison, PhD, Patrick G. Gallagher, MD

Blood (2012) 120 (21): 368.

https://doi.org/10.1182/blood.V120.21.368.368

Published: 2012

NARROW

Terminal Erythroid Maturation Is Associated with Dynamic Changes in the Abundance of Histone Marks Associated with Active Transcription Elongation and RNA Polymerase II Pausing

Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations

Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia

MRTFA Augments Megakaryocyte Maturation By Enhancing the SRF Regulatory Axis

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Pomalidomide Transcriptionally Reprograms Adult Erythroid Progenitors Independently of Ikaros Proteasomal Degradation

The Histone Methyltransferase Setd8 Is Essential for Mammalian Erythropoiesis

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

Identification of a Novel SLC40A1 Arg88Ile Mutation in a Patient with Familial Iron Overload Treated By Phlebotomy

The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype

Severe Alpha-Spectrin Linked Recessive Hereditary Spherocytosis

Pomalidomide Modulates Transcription Networks Regulating Human Erythropoiesis and Globin Switching: Implications for Treatment of Hemoglobinopathies

Codanin-1 Binds to Key Erythroid Genes and Its Knockdown Coupled with Ectopic Mutant Expression Recapitulates the Congenital Dyserythropoietic Anemia Type I (CDA I) Phenotype

Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (–AA) β 0 -Thalassemia Mutation

Patients Homozygous For Codon 8 (–AA) Frame-Shift β 0 -Thalassemia Mutation With Markedly Increased HbF

The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis

Enhancers and Super Enhancers Are Associated With Genes That Control Phenotypic Traits In Primary Human Erythroid Cells

Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia

Severe Impairment of γ-Globin Gene Silencing in an Asymptomatic Adult Patient Homozygous for the Codon 8 (–AA) Frame-Shift β 0 -Thalassemia Mutation

Identification of Biologicaly Relevant Enhancers in Human Erythroid Cells

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American Society of Hematology

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American Society of Hematology

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