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Journal Articles

New Germline Syndrome Discovery: Heterozygous CSF3R Mutations May Predispose to Myeloid and Lymphoid Malignancies

Amy M Trottier, MDBSc,MSc, Ira L Kraft, MD, Lawrence J Druhan, PhD, Amanda Lance, MS, Belinda R Avalos, MD, Lucy A Godley, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2543.
https://doi.org/10.1182/blood-2019-129492
Published: 2019
Journal Articles

Prevalence of Inherited Cancer Predisposition Mutations in a Cohort of Older AML Patients Enrolled on the Beat AML Master Trial

Uma Borate, MD, Fei Yang, MD, Richard D. Press, MD PhD, Dean Pavlick, Luke Juckett, BSc, BA, MSc, Anupriya Agarwal, PhD, Amy Burd, PhD, Alice S. Mims, MD, Eytan M. Stein, MD, Prapti A. Patel, MD, Maria R. Baer, MD, Wendy Stock, MD, Gary J. Schiller, MD, William Blum, MD, Paul J Shami, MD, Mark Litzow, MD, James M. Foran, MD, Nyla A. Heerema, PhD, Leonard Rosenberg, Sonja Marcus, MPH, Ashley Owen Yocum, PhD, Mona Stefanos, MBChB, John C. Byrd, MD, Brian J. Druker, Jo-Anne Vergilio, MD, Ross L. Levine, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 373.
https://doi.org/10.1182/blood-2019-131925
Published: 2019
Journal Articles

Next-Generation Sequencing of DDX41 in Myeloid Neoplasms Leads to Increased Detection of Germline Alterations

Sarah Bannon, MS, CGC, Mark Routbort, MD PhD, Guillermo Garcia-Manero, MD, Naval G. Daver, MD, Betul Oran, MD MS, Gautam Borthakur, MD, Rohtesh S. Mehta, MD MPH,MS, Kiran Naqvi, MD MPH, Koichi Takahashi, MD, Yesid Alvarado, MD, Tapan M. Kadia, MD, Hagop M. Kantarjian, MD, Keyur P. Patel, MBBS, PhD, Courtney D. DiNardo, MD MSc
Journal: Blood
Blood (2018) 132 (Supplement 1): 2667.
https://doi.org/10.1182/blood-2018-99-116518
Published: 2018
Journal Articles

Clinical and Molecular Characteristics of DDX41 -Mutated Patients in a Large Cohort of Sporadic MDS/AML

Marie Sebert, MD, Marie Passet, PharmD, Anna Raimbault, PhD, Samuel Quentin, Nadia Vasquez, Ramy Rahmé, Emmanuel Raffoux, Flore Sicre De Fontbrune, MD PhD, Regis Peffault De Latour, Raphael Itzykson, MD PhD, Pierre Fenaux, MD PhD, Jean Soulier, MDPhD, Lionel Ades, MD PhD, Emmanuelle Clappier, PhD PharmD
Journal: Blood
Blood (2018) 132 (Supplement 1): 797.
https://doi.org/10.1182/blood-2018-99-110668
Published: 2018
Journal Articles

Identification of Genetic Hereditary Predisposition to Hematologic Malignancies By Clinical Next-Generation Sequencing

Amy E Knight Johnson, MS, Lucia Guidugli, PhD, Kelly Arndt, BA, Gorka Alkorta-Aranburu, PhD, Viswateja Nelakuditi, MS, Jane E. Churpek, MD, Lucy A Godley, MD PhD, Daniela del Gaudio, PhD, Soma Das, PhD, Zejuan Li, MD PhD
Journal: Blood
Blood (2015) 126 (23): 3854.
https://doi.org/10.1182/blood.V126.23.3854.3854
Published: 2015
Journal Articles

Whole Genome Sequence Analysis of Primary Myelofibrosis.

Jason D. Merker, Krishna Roskin, Dana Ng, Cuiping Pan, Dianna G. Fisk, Carol D. Jones, Linda Gojenola, Michael J. Clark, Bing Zhang, Michael Cherry, Michael Snyder, Scott D. Boyd, James L. Zehnder, Andrew Z. Fire, Jason Gotlib
Journal: Blood
Blood (2012) 120 (21): 2863.
https://doi.org/10.1182/blood.V120.21.2863.2863
Published: 2012
Journal Articles

Novel Bone Marrow Failure Syndrome Due to a Deletion of the EVI1/Mecom Gene.

Lars T. van der Veken, PhD, Marc Bierings, Merel Maiburg, MD, Floris Groenendaal, MD, PhD, Andries C Bloem, PhD, Nine V. Knoers, MD, PhD, Arjan Buijs, PhD
Journal: Blood
Blood (2012) 120 (21): 2368.
https://doi.org/10.1182/blood.V120.21.2368.2368
Published: 2012
Journal Articles

Identification of Novel LNK Mutations In Patients with Chronic Myeloproliferative Neoplasms and Related Disorders

Stephen T. Oh, M.D., Ph.D., Jacob M. Zahn, Ph.D., Carol D. Jones, B.A., Bing Zhang, M.D., M.S., Mignon L. Loh, M.D., Hagop Kantarjian, MD, Erin F. Simonds, B.S., Robert V. Bruggner, B.S., Parveen Abidi, Ph.D., Georges Natsoulis, Ph.D., John Bell, M.S., Jason Buenrostro, B.S., Garry P. Nolan, Ph.D., James L. Zehnder, M.D., Hanlee P. Ji, M.D., Jason Gotlib, M.D., M.S.
Journal: Blood
Blood (2010) 116 (21): 315.
https://doi.org/10.1182/blood.V116.21.315.315
Published: 2010
Journal Articles

Pharmacological Therapy of Inherited Disease.

Jeffrey R. Keefer, MD, PhD, Martina C. McGuinness, PhD, Gao X. Dong, PhD, George J. Dover, MD, Kirby D. Smith, PhD
Journal: Blood
Blood (2005) 106 (11): 3179.
https://doi.org/10.1182/blood.V106.11.3179.3179
Published: 2005
Journal Articles

Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections

Dirk Roos, Rob van Zwieten, Juul T. Wijnen, Felix Gómez-Gallego, Martin de Boer, David Stevens, Claudia J. Pronk-Admiraal, Thea de Rijk, Cornelis J.F. van Noorden, Ron S. Weening, Tom J. Vulliamy, J. Eduard Ploem, Philip J. Mason, José M. Bautista, P. Meera Khan, Ernest Beutler
Journal: Blood
Blood (1999) 94 (9): 2955–2962.
https://doi.org/10.1182/blood.V94.9.2955
Published: 1999