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Richard A Gibbs
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Journal Articles

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Clinical Trials & Observations
Pilar L. Magoulas, Oleg A. Shchelochkov, Matthew N. Bainbridge, Shay Ben-Shachar, Svetlana Yatsenko, Lorraine Potocki, Richard A. Lewis, Charles Searby, Andrea N. Marcogliese, M. Tarek Elghetany, Gladys Zapata, Paula P. Hernández, Manasi Gadkari, Derek Einhaus, Donna M. Muzny, Richard A. Gibbs, Alison A. Bertuch, Daryl A. Scott, Silvia Corvera, Luis M. Franco
Journal: Blood
Blood (2018) 132 (6): 658–662.
https://doi.org/10.1182/blood-2017-12-824433
Published: 2018
Includes: Supplemental data
Journal Articles

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Ivan K. Chinn, Olive S. Eckstein, Erin C. Peckham-Gregory, Baruch R. Goldberg, Lisa R. Forbes, Sarah K. Nicholas, Emily M. Mace, Tiphanie P. Vogel, Harshal A. Abhyankar, Maria I. Diaz, Helen E. Heslop, Robert A. Krance, Caridad A. Martinez, Trung C. Nguyen, Dalia A. Bashir, Jordana R. Goldman, Asbjørg Stray-Pedersen, Luis A. Pedroza, M. Cecilia Poli, Juan C. Aldave-Becerra, Sean A. McGhee, Waleed Al-Herz, Aghiad Chamdin, Zeynep H. Coban-Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Tram N. Cao, Diana N. Hong, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Kenneth L. McClain, Carl E. Allen
Journal: Blood
Blood (2018) 132 (1): 89–100.
https://doi.org/10.1182/blood-2017-11-814244
Published: 2018
Includes: Supplemental data
Journal Articles

FOXO3 Variants Are Associated With Lower Fetal Hemoglobin Levels In Children With Sickle Cell Disease

Vivien A Sheehan, MD, PhD, Jacy R Crosby, MS, Aniko Sabo, PhD, Thad A Howard, MS, Donna M. Muzny, Jeffrey G Reid, Ph.D, Banu Aygun, MD, Eric Boerwinkle, PhD, Richard A. Gibbs, Russell E. Ware, MD, PhD
Journal: Blood
Blood (2013) 122 (21): 778.
https://doi.org/10.1182/blood.V122.21.778.778
Published: 2013
Journal Articles

Rare Genetic Variants Of The Protein-Coding Area Of The Genome and The Risk Of Inhibitor Development: An Exome-Sequencing Study Of 28 Patients With Severe Hemophilia A

Luca A. Lotta, Marco Fornili, Federico Ambrogi, Maria Elisa Mancuso, MD, PhD, Elena Santagostino, MD, PhD, Isabella Garagiola, Sabrina Seregni, Donna M. Muzny, Ginger Metcalf, Richard A. Gibbs, Elia Biganzoli, Flora Peyvandi
Journal: Blood
Blood (2013) 122 (21): 571.
https://doi.org/10.1182/blood.V122.21.571.571
Published: 2013
Journal Articles

Rare Coding Single Nucleotide Variants of ADAMTS13 Are Associated with Deep Vein Thrombosis in a Next-Generation Sequencing Association Study

Luca Andrea Lotta, Giacomo Tuana, PhD, Jin Yu, Ida Martinelli, Mark Wang, Fuli Yu, Serena Maria Passamonti, Emanuela Pappalardo, Walker Hale IV, Donna M. Muzny, Frits R. Rosendaal, Richard A Gibbs, PhD, Flora Peyvandi
Journal: Blood
Blood (2012) 120 (21): 107.
https://doi.org/10.1182/blood.V120.21.107.107
Published: 2012
Journal Articles

Genetic Predictors of Hemoglobin F Response to Hydroxyurea in Sickle Cell Anemia

Vivien A Sheehan, MD, PhD, Thad A Howard, MS, Aniko Sabo, PhD, Uma Nagasaswamy, PhD, Jacy R Crosby, MS, Brian Davis, MS, Alexander H Li, MS, Eric Boerwinkle, PhD, Richard A Gibbs, PhD, Russell E. Ware, MD, PhD, Jonathan M Flanagan, PhD
Journal: Blood
Blood (2012) 120 (21): 241.
https://doi.org/10.1182/blood.V120.21.241.241
Published: 2012
Journal Articles

Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura

Luca A. Lotta, Haifeng M. Wu, Ian J. Mackie, Marina Noris, Agnes Veyradier, Marie A. Scully, Giuseppe Remuzzi, Paul Coppo, Ri Liesner, Roberta Donadelli, Chantal Loirat, Richard A. Gibbs, April Horne, Shangbin Yang, Isabella Garagiola, Khaled M. Musallam, Flora Peyvandi
Journal: Blood
Blood (2012) 120 (2): 440–448.
https://doi.org/10.1182/blood-2012-01-403113
Published: 2012
Includes: Supplemental data
Journal Articles

Residual Plasmatic Activity of ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura Correlates with Disease Phenotype

Luca A Lotta, Haifeng M Wu, Marie A Scully, Marina Noris, Agnes Veyradier, Ian J Mackie, PhD FRCPath, Giuseppe Remuzzi, Paul Coppo, Ri Liesner, Roberta Donadelli, Chantal Loirat, MD, Richard A Gibbs, April Horne, Shangbin Yang, Roberta Palla, Flora Peyvandi
Journal: Blood
Blood (2011) 118 (21): 2219.
https://doi.org/10.1182/blood.V118.21.2219.2219
Published: 2011
Journal Articles

Identification of DEEP Vein Thrombosis GENETIC RISK Variants by NEXT GENERATION Sequencing of Hemostatic Genes

Luca Andrea Lotta, Mark Wang, Jin Yu, Fuli Yu, Ida Martinelli, Serena Passamonti, Emanuela Pappalardo, Marzia Menegatti, Lora L Lewis, Walker Hale, IV, Donna M Muzny, Pier Mannuccio Mannucci, Richard A Gibbs, Flora Peyvandi
Journal: Blood
Blood (2011) 118 (21): 710.
https://doi.org/10.1182/blood.V118.21.710.710
Published: 2011