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Donna M. Muzny
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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

Integrated Genomic Analysis of Down Syndrome Acute Lymphoblastic Leukemia Reveals Recurrent Cancer Gene Alterations and Evidence of Frequent Subclonal Driver Events

Oliver A, Hampton, PhD, Enrique I. Ramos, PhD, Nipun Kakkar, B.S., Jacob J. Junco, PhD BS, Jacquelyn Reuther, PhD, Anne Angiolillo, MD, Reuven J Schore, MD, Michael J. Burke, MD, Wanda Salzer, MD, Meenakshi Devidas, PhD, Andrew J. Carroll, PhD, Nyla A. Heerema, PhD, Kelly Maloney, MD, Naomi Winick, MD, William L. Carroll, MD, Elizabeth Raetz, MD, Mignon L. Loh, MD, Stephen P. Hunger, MD, Juhi Jain, MD, Harsha Doddapaneni, PhD, Donna M. Muzny, M.S., David A. Wheeler, PhD, Kevin E. Fisher, MD PhD, Dolores H. Lopez-Terrada, MD PhD, Angshumoy Roy, MD PhD, Donald Williams Parsons, MD PhD, Karen R. Rabin, MD PhD
Journal: Blood
Blood (2016) 128 (22): 4083.
https://doi.org/10.1182/blood.V128.22.4083.4083
Published: 2016
Journal Articles

Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis

Rikhia Chakraborty, Oliver A. Hampton, Xiaoyun Shen, Stephen J. Simko, Albert Shih, Harshal Abhyankar, Karen Phaik Har Lim, Kyle R. Covington, Lisa Trevino, Ninad Dewal, Donna M. Muzny, Harshavardhan Doddapaneni, Jianhong Hu, Linghua Wang, Philip J. Lupo, M. John Hicks, Diana L. Bonilla, Karen C. Dwyer, Marie-Luise Berres, Poulikos I. Poulikakos, Miriam Merad, Kenneth L. McClain, David A. Wheeler, Carl E. Allen, D. Williams Parsons
Journal: Blood
Blood (2014) 124 (19): 3007–3015.
https://doi.org/10.1182/blood-2014-05-577825
Published: 2014
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

Whole Exome Sequencing and Analysis Of Mutations In Sézary Syndrome

David A. Wheeler, PhD, Lui Xi, Xiao Ni, MD, PhD, Misha Koshelev, MD, PhD, Jennifer Drummond, Donna M. Muzny, Xiang Zhang, MD, MS, Madeleine Duvic, MD
Journal: Blood
Blood (2013) 122 (21): 2558.
https://doi.org/10.1182/blood.V122.21.2558.2558
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

Clinically Significant Mutations, Deletions and Translocations Involving ETV6 Identified by Whole Genome and Whole Exome Sequencing; Report From NCI/COG Target AML Initiative

Heather L. Helton, MD, Rhonda E. Ries, MA, Todd A. Alonzo, PhD, Robert B. Gerbing, M.A., Lisa R. Trevino, PhD, Jason Farrar, M.D., Jaime M. Guidry Auvil, Ph.D., Tanja M. Davidsen, PhD, Patee Gesuwan, Ph.D., Donna M. Muzny, Alan S. Gamis, MD, MPH, Janet Franklin, MD, MPH, David A. Wheeler, PhD, Malcolm A. Smith, MD, PhD, Daniela S. Gerhard, Ph.D., Robert J. Arceci, MD, PhD, Soheil Meshinchi, MD, PhD
Journal: Blood
Blood (2012) 120 (21): 125.
https://doi.org/10.1182/blood.V120.21.125.125
Published: 2012
Journal Articles

Identification of Novel Somatic Mutations, Regions of Recurrent Loss of Heterozygosity (LOH) and Significant Clonal Evolution From Diagnosis to Relapse in Childhood AML Determined by Exome Capture Sequencing – an NCI/COG Target AML Study

Soheil Meshinchi, MD, PhD, Rhonda E. Ries, MA, Lisa R. Trevino, PhD, Oliver A. Hampton, PhD, Todd Alonzo, PhD, Jason E. Farrar, MD, Jaime M. Guidry Auvil, PhD, Tanja M. Davidsen, PhD, Patee Gesuwan, PhD, Donna M. Muzny, Alan S. Gamis, MD, MPH, Heather L. Helton, MD, David A. Wheeler, PhD, Malcolm A. Smith, MD, PhD, Daniela S. Gerhard, Ph.D., Robert J. Arceci, MD, PhD
Journal: Blood
Blood (2012) 120 (21): 123.
https://doi.org/10.1182/blood.V120.21.123.123
Published: 2012
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

Genome Wide Promoter Methylation Patterns Predict AML Subtype Outcomes and Identify Novel Pathways Characterizing Diagnostic and Relapsed Disease in Children

Michael Ochs, Ph.D., Jason Farrar, M.D., Michael Considine, M.S., Rhonda E. Ries, MA, Lisa R. Trevino, PhD, Todd A. Alonzo, PhD, Jaime Guidry-Auvil, Ph.D., Tanja M. Davidsen, PhD, Patee Gesuwan, Ph.D., Donna M. Muzny, Alan S. Gamis, MD, MPH, David A. Wheeler, PhD, Heather L. Helton, MD, Malcolm A. Smith, MD, PhD, Daniela S. Gerhard, Ph.D., Soheil Meshinchi, MD, PhD, Robert J. Arceci, MD, PhD
Journal: Blood
Blood (2012) 120 (21): 1287.
https://doi.org/10.1182/blood.V120.21.1287.1287
Published: 2012
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