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Journal Articles

The Association of SEPTIN6 Mutations with Pediatric Myelodysplasia

Safa F Mohamad, Meaghan McGuinness, Gabriele Casirati, Chad Everett Harris, Raffaele Renella, Pietro Genovese, Eric Allenspach, David A. Williams

Blood (2023) 142 (Supplement 1): 1846.

https://doi.org/10.1182/blood-2023-182069

Published: 2023

Journal Articles

Proteomic and Lipidomic Investigation of an Ex-Vivo Human Model of Sickle Cell Disease Erythropoiesis and Patient Erythrocytes Reveals the Abnormal Localization and Dysfunction of the Proteasome, Disrupted Antioxidant Defenses and Altered Lipid Profiles

Julien Delobel, Romain Hamelin, Viviane Praz, Hector Gallart-Ayala, Florence Armand, Manfredo Quadroni, Katia Balmas-Bourloud, Diego Chiappe, Carlo Brugnara, Julijana Ivanisevic, Raffaele Renella

Blood (2022) 140 (Supplement 1): 959–960.

https://doi.org/10.1182/blood-2022-160011

Published: 2022

Journal Articles

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Raffaele Renella, MD PhD, Katelyn Gagne, BS, Ellen Beauchamp, BA, Thorsten Schlaeger, PhD, Inga Hofmann, MD, Akiko Shimamura, MD PhD, Jonathan Fogel, BSc, Suneet Agarwal, MDPhD, Benjamin L. Ebert, MDPhD, Kyriacos Markianos, Timothy A. Springer, PhD, Mark D. Fleming, MD DPhil, David A. Williams, MD

Blood (2018) 132 (Supplement 1): 644.

https://doi.org/10.1182/blood-2018-99-114682

Published: 2018

Journal Articles

Harnessing the Power of Global Health Studies for Sickle Cell Disease: Validation of a Rapid, Open-Source, Paper-Based Screening Assay in a Cohort of 1103 Tanzanian Children

Julien Delobel, PhD, Kristina Keitel, MDPhD, Katia Balmas-Bourloud, Tarsis Mlaganile, Valerie D'Acremont, MDPhD, Raffaele Renella, MD PhD

Blood (2018) 132 (Supplement 1): 510.

https://doi.org/10.1182/blood-2018-99-109726

Published: 2018

Journal Articles

Optimization of Bcl11a Knockdown By miRNA Scaffold Embedded Shrnas Leading to Enhanced Induction of Fetal Hemoglobin in Erythroid Cells for the Treatment of Beta-Hemoglobinopathies

Christian Brendel, PhD, Swaroopa Guda, PhD, Raffaele Renella, MD PhD, Peng Du, PhD, Daniel E. Bauer, MD, PhD, Matthew C. Canver, BS, Sophia C. Kamran, MD, James Thornton, PhD, Helen de Boer, BAS, Michael D. Milsom, PhD, Stuart H. Orkin, MD, Richard Gregory, PhD, David A. Williams, MD

Blood (2014) 124 (21): 2150.

https://doi.org/10.1182/blood.V124.21.2150.2150

Published: 2014

Journal Articles

Hematopoietic SIN Lentiviral Micro RNA-Mediated Silencing of BCL11A: Pre-Clinical Evidence for a Sickle Cell Disease Gene-Therapy Trial

Raffaele Renella, MD, PhD, Aleksej Perlov, Chad E Harris, Daniel E. Bauer, MD, PhD, Jian Xu, PhD, Swaroopa Guda, PhD, Michael D. Milsom, PhD, Stuart H. Orkin, MD, David A. Williams, MD

Blood (2012) 120 (21): 753.

https://doi.org/10.1182/blood.V120.21.753.753

Published: 2012

Journal Articles

Vav1 Deficiency Differentially Affects Engraftment of Fetal Hematopoietic Organs During Development Compared with Adult Marrow After Transplantation

Serena De Vita, MD, PhD, Chad E Harris, Raffaele Renella, MD, PhD, Ronald Mathieu, Meaghan McGuinness, David A. Williams, MD

Blood (2012) 120 (21): 1212.

https://doi.org/10.1182/blood.V120.21.1212.1212

Published: 2012

Journal Articles

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1α localization in erythroblasts

Raffaele Renella, Nigel A. Roberts, Jill M. Brown, Marco De Gobbi, Louise E. Bird, Tasneem Hassanali, Jacqueline A. Sharpe, Jacqueline Sloane-Stanley, David J. P. Ferguson, Jacqueline Cordell, Veronica J. Buckle, Douglas R. Higgs, William G. Wood

Blood (2011) 117 (25): 6928–6938.

https://doi.org/10.1182/blood-2010-09-308478

Published: 2011

Includes: Supplemental data

Journal Articles

Codanin-1 Mutations In Congenital Dyserythropoietic Anemia Type 1 Affect HP1α Localization In Erythroblasts

Raffaele Renella, MD, PhD, Nigel Roberts, BSc, Jill M Brown, MSc, Marco De Gobbi, MD, PhD, Louise Bird, PhD, Tasneem Hassanali, BSc, Jacqueline Sloane-Stanley, BSc, Jacqueline A Sharpe, PhD, Jacqueline Loelia Cordell, BSc, David J.P. Ferguson, MD, PhD, Veronica Buckle, PhD, Douglas R. Higgs, DSc, William G Wood, PhD

Blood (2010) 116 (21): 1003.

https://doi.org/10.1182/blood.V116.21.1003.1003

Published: 2010

Journal Articles

A Transgenic Mouse Model for Congenital Dyserythropoietic Anemia Type I

Raffaele Renella, MD, Nigel A Roberts, BSc, Jacqueline A Sharpe, PhD, Pik-Shan Li, BSc, Jill M Brown, BSc, Christian Babbs, PhD, Cristina Fugazza, PhD, Nicolas Goardon, PhD, Douglas R Higgs, DSc, William G Wood, PhD

Blood (2008) 112 (11): 3455.

https://doi.org/10.1182/blood.V112.11.3455.3455

Published: 2008

NARROW

The Association of SEPTIN6 Mutations with Pediatric Myelodysplasia

Proteomic and Lipidomic Investigation of an Ex-Vivo Human Model of Sickle Cell Disease Erythropoiesis and Patient Erythrocytes Reveals the Abnormal Localization and Dysfunction of the Proteasome, Disrupted Antioxidant Defenses and Altered Lipid Profiles

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Harnessing the Power of Global Health Studies for Sickle Cell Disease: Validation of a Rapid, Open-Source, Paper-Based Screening Assay in a Cohort of 1103 Tanzanian Children

Optimization of Bcl11a Knockdown By miRNA Scaffold Embedded Shrnas Leading to Enhanced Induction of Fetal Hemoglobin in Erythroid Cells for the Treatment of Beta-Hemoglobinopathies

Hematopoietic SIN Lentiviral Micro RNA-Mediated Silencing of BCL11A: Pre-Clinical Evidence for a Sickle Cell Disease Gene-Therapy Trial

Vav1 Deficiency Differentially Affects Engraftment of Fetal Hematopoietic Organs During Development Compared with Adult Marrow After Transplantation

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1α localization in erythroblasts

Codanin-1 Mutations In Congenital Dyserythropoietic Anemia Type 1 Affect HP1α Localization In Erythroblasts

A Transgenic Mouse Model for Congenital Dyserythropoietic Anemia Type I

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American Society of Hematology

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ASH Publications

American Society of Hematology

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