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Journal Articles

Dead and Deah-Box Helicases Other Than DDX41 Are Mutated in Myeloid Neoplasia

Carmelo Gurnari, Arda Durmaz, Yasuo Kubota, Mai Aly, Olisaemeka Ogbue, Fauzia Ullah, Danai Dima, Hussein Awada, Naomi Kawashima, Thomas LaFramboise, Richard A Padgett, Torsten Haferlach, Jaroslaw P. Maciejewski, Valeria Visconte

Blood (2022) 140 (Supplement 1): 9747–9748.

https://doi.org/10.1182/blood-2022-160439

Published: 2022

Journal Articles

Multi-Omics Data Integration of Genomics and RNA-Splicing in Myeloid Neoplasia

Arda Durmaz, Carmelo Gurnari, Courtney E. Hershberger, Simona Pagliuca, Hassan Awada, Hussein Awada, Minako Mori, Yasuo Kubota, Tariq Kewan, Waled Bahaj, John Barnard, Jacob Scott, Richard A Padgett, Torsten Haferlach, Jaroslaw P. Maciejewski, Valeria Visconte

Blood (2022) 140 (Supplement 1): 1917–1918.

https://doi.org/10.1182/blood-2022-164731

Published: 2022

Journal Articles

Myelodysplastic Syndromes: A More Global 5-Hydroxymethylcytosine Deficiency Disorder Than Suggested By the Presence of TET2 Mutations

Carmelo Gurnari, Simona Pagliuca, Yihong Guan, Courtney E. Hershberger, Ying Ni, Jaymeson Gordon, Hetty E. Carraway, Richard A Padgett, Diego Coutinho, Ilana Zalcberg, Jae-Sook Ahn, Hyeoung-Joon Kim, Dennis Dong Hwan Kim, Sr., Mark D. Minden, Joop H. Jansen, Babal K. Jha, Torsten Haferlach, Jaroslaw P. Maciejewski, Valeria Visconte

Blood (2021) 138 (Supplement 1): 3665.

https://doi.org/10.1182/blood-2021-145949

Published: 2021

Journal Articles

Hotspot U2AF1 Mutations Determine Missplicing Selectivity: Novel Mechanisms Altering Splicing Factors

Vera Adema, PhD, Courtney E Hershberger, BS, Wencke Walter, PhD, Cassandra M Kerr, MS, Stephan Hutter, PhD, Yasunobu Nagata, MD PhD, Hassan Awada, Sunisa Kongkiatkamon, Christina Snider, Milo Co, Manja Meggendorfer, PhD, Aziz Nazha, MD, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Francesc Sole, PhD, Richard A Padgett, PhD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD, Valeria Visconte, PhD

Blood (2019) 134 (Supplement_1): 2985.

https://doi.org/10.1182/blood-2019-129367

Published: 2019

Journal Articles

The Biological and Clinical Implications of the Alternative Splicing Landscape of 1,258 Myeloid Neoplasm Cases

Courtney E Hershberger, BS, Devlin C Moyer, BS, Wencke Walter, PhD, Stephan Hutter, PhD, Claudia Haferlach, MD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD, Richard A Padgett, PhD

Blood (2019) 134 (Supplement_1): 769.

https://doi.org/10.1182/blood-2019-128278

Published: 2019

Journal Articles

Development of a Novel Class of Agents Targeting the RNA-Splicing Machinery in Myeloid Malignancies

Blood (2018) 132 (Supplement 1): 211.

https://doi.org/10.1182/blood-2018-99-116411

Published: 2018

Journal Articles

LUC7L2 Is a Novel RNA-Splicing Regulatory Factor Mutated in Myelodysplastic Syndromes

Courtney Hershberger, BS, James Hiznay, Rosemary Dietrich, Xiaorong Gu, PhD, Cassandra M. Hirsch, Amy Graham, BS, MS, Bartlomiej P. Przychodzen, Valeria Visconte, PhD, Vera Adema, PhD, Yvonne Parker, Hetty E. Carraway, MD MBA, Tomas Radivoyevitch, PhD, Mikkael A. Sekeres, MD MS, Yogenthiran Saunthararajah, MD, Jaroslaw P. Maciejewski, Richard A Padgett

Blood (2018) 132 (Supplement 1): 3073.

https://doi.org/10.1182/blood-2018-99-112838

Published: 2018

Journal Articles

Somatic PRPF8 Mutations in Myeloid Neoplasia

Vera Adema, PhD, Cassandra M. Hirsch, BS, Bartlomiej P. Przychodzen, MSc, Yasunobu Nagata, MD PhD, Elise Lemelle, BS, Aziz Nazha, MD, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Valeria Visconte, PhD, Jaroslaw P. Maciejewski, PhD MD FACP, Richard A Padgett

Blood (2017) 130 (Supplement 1): 584.

https://doi.org/10.1182/blood.V130.Suppl_1.584.584

Published: 2017

Journal Articles

The Role of LUC7L2 in Splicing and MDS

Courtney Elizabeth Hershberger, BS, Naoko Hosono, MD, PhD, Jarnail Singh, PhD, Rosemary C Dietrich, M.S., Xiaorong Gu, PhD, Hideki Makishima, MD PhD FACP., Yogen Saunthararajah, MD, Jaroslaw P Maciejewski, MD PhD FACP, Richard A Padgett, PhD

Blood (2016) 128 (22): 5504.

https://doi.org/10.1182/blood.V128.22.5504.5504

Published: 2016

Journal Articles

DDX41 Is a Tumor Suppressor Gene Associated with Inherited and Acquired Mutations

Blood (2014) 124 (21): 125.

https://doi.org/10.1182/blood.V124.21.125.125

Published: 2014

Journal Articles

Spliceosomal Gene LUC7L2 Mutation Causes Missplicing and Alteration Of Gene Expression In Myeloid Neoplasms

Naoko Hosono, MD, PhD, Hideki Makishima, MD, PhD, Bartlomiej Przychodzen, Ph.D., Jarnail Singh, PhD, Richard A Padgett, PhD, Mikkael A. Sekeres, MD, MS, Andres Jerez, MD, Kenichi Yoshida, MD, Yuichi Shiraishi, PhD, Satoru Miyano, PhD, Masashi Sanada, MD, PhD, Seishi Ogawa, MD, PhD, Jaroslaw P. Maciejewski, MD, PhD, FACP

Blood (2013) 122 (21): 470.

https://doi.org/10.1182/blood.V122.21.470.470

Published: 2013

Journal Articles

Novel Pathogenic Defects Of Dead/H-Box Helicases In Myeloid Neoplasms

Blood (2013) 122 (21): 655.

https://doi.org/10.1182/blood.V122.21.655.655

Published: 2013

Journal Articles

Molecular Defects In BRCC3 Complex, a Novel Pathogenic Pathway In MDS

Blood (2013) 122 (21): 264.

https://doi.org/10.1182/blood.V122.21.264.264

Published: 2013

Journal Articles

Downstream Consequences of U2AF1 Mutations in MDS Are a Result of a Specific Misplicing Patterns Due to Faulty Recognition of 3'acceptor Splice Site

Bartlomiej P Przychodzen, Hideki Makishima, Andres Jerez, MD, PhD, Richard A Padgett, PhD, Jaroslaw P. Maciejewski, MD, PhD

Blood (2012) 120 (21): 3517.

https://doi.org/10.1182/blood.V120.21.3517.3517

Published: 2012

Journal Articles

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

Blood (2012) 120 (16): 3173–3186.

https://doi.org/10.1182/blood-2012-05-430876

Published: 2012

Includes: Supplemental data

Journal Articles

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

Hideki Makishima, Valeria Visconte, Hirotoshi Sakaguchi, Anna M. Jankowska, Sarah Abu Kar, Andres Jerez, Bartlomiej Przychodzen, Manoj Bupathi, Kathryn Guinta, Manuel G. Afable, Mikkael A. Sekeres, Richard A. Padgett, Ramon V. Tiu, Jaroslaw P. Maciejewski

Blood (2012) 119 (14): 3203–3210.

https://doi.org/10.1182/blood-2011-12-399774

Published: 2012

Includes: Supplemental data

Journal Articles

Association of SF3B1 with Ring Sideroblasts in patients, In Vivo, and In Vitro models of Spliceosomal Dysfunction

Blood (2011) 118 (21): 457.

https://doi.org/10.1182/blood.V118.21.457.457

Published: 2011

NARROW

Dead and Deah-Box Helicases Other Than DDX41 Are Mutated in Myeloid Neoplasia

Multi-Omics Data Integration of Genomics and RNA-Splicing in Myeloid Neoplasia

Myelodysplastic Syndromes: A More Global 5-Hydroxymethylcytosine Deficiency Disorder Than Suggested By the Presence of TET2 Mutations

Hotspot U2AF1 Mutations Determine Missplicing Selectivity: Novel Mechanisms Altering Splicing Factors

The Biological and Clinical Implications of the Alternative Splicing Landscape of 1,258 Myeloid Neoplasm Cases

Development of a Novel Class of Agents Targeting the RNA-Splicing Machinery in Myeloid Malignancies

LUC7L2 Is a Novel RNA-Splicing Regulatory Factor Mutated in Myelodysplastic Syndromes

Somatic PRPF8 Mutations in Myeloid Neoplasia

The Role of LUC7L2 in Splicing and MDS

DDX41 Is a Tumor Suppressor Gene Associated with Inherited and Acquired Mutations

Spliceosomal Gene LUC7L2 Mutation Causes Missplicing and Alteration Of Gene Expression In Myeloid Neoplasms

Novel Pathogenic Defects Of Dead/H-Box Helicases In Myeloid Neoplasms

Molecular Defects In BRCC3 Complex, a Novel Pathogenic Pathway In MDS

Downstream Consequences of U2AF1 Mutations in MDS Are a Result of a Specific Misplicing Patterns Due to Faulty Recognition of 3'acceptor Splice Site

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

Association of SF3B1 with Ring Sideroblasts in patients, In Vivo, and In Vitro models of Spliceosomal Dysfunction

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American Society of Hematology

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American Society of Hematology

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