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Journal Articles

Germline Gain-of-Function JAK3 Mutation in Familial Chronic Lymphoproliferative Disorder of NK Cells

Harry Lesmana, MD, Marcela Popescu, MD, Sara Lewis, MS, LCGC, Sushree Sangita Sahoo, PhD, Charnise Goodings-Harris, PhD, Mihaela Onciu, MD FACP, John Kim Choi, MD FACP, Clifford Takemoto, MD, Kim E. Nichols, MD, Marcin Wlodarski, MD PhD

Blood (2020) 136 (Supplement 1): 9–10.

https://doi.org/10.1182/blood-2020-142078

Published: 2020

Journal Articles

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Richa Sharma, MD, Sushree Sangita Sahoo, PhD, Masayoshi Honda, Charnise Goodings-Harris, PhD, Victor Pastor, PhD, Hauke Busch, PhD, Melanie Börries, PhD, Fabian Beier, MD, Miriam Erlacher, MD PhD, Melchior Lauten, Marc Wold, PhD, Maria Spies, PhD, Charlotte M. Niemeyer, MD, Marcin Wlodarski, MD PhD

Blood (2020) 136 (Supplement 1): 36–37.

https://doi.org/10.1182/blood-2020-143006

Published: 2020

Journal Articles

Prevalence of Inherited Predisposition Syndromes in Young Patients with Acute Myeloid Leukemia and Aberrant Karyotype

Martin Kirschner, Benjamin Rolles, MD, Martina Crysandt, Christoph Röllig, Prof., MD, Friedrich Stolzel, MD, Martin Bornhäuser, MD, Carsten Müller-Tidow, MD, Kim Kricheldorf, Margherita Vieri, PhD, Matthias Begemann, Angela Maurer, Jens Panse, MD, Susanne Isfort, Marcin Wlodarski, MD PhD, Sushree Sangita Sahoo, PhD, Tim H Brümmendorf, MD, Edgar Jost, Fabian Beier, MD

Blood (2020) 136 (Supplement 1): 41–42.

https://doi.org/10.1182/blood-2020-142815

Published: 2020