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Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH
Journal: Blood
Blood (2018) 132 (Supplement 1): 3854.
https://doi.org/10.1182/blood-2018-99-117171
Published: 2018
Journal Articles

Microdeletions at Apparently Balanced Translocation Breakpoints Are Biomarkers for Heightened Genomic Instability in Patients with Non- MLL Acute Myeloid Leukemia

Roger A. Schultz, PhD, Theresa C. Brown, PhD, Lynda J. Campbell, MBBS, FRCPA, Meaghan Wall, MBBS, PhD, FRACP, FRCPA, Jacqueline Schoumans, PhD, Jin-Yeong Han, MD, Urvashi Surti, MD, Eric Crawford, PhD, ABMG, S. Dwanna Stewart, PhD, FACMG, Raymond R. Tubbs, DO, James R. Cook, MD, PhD, Aaron M. Gruver, MD, PhD, Asad Dean, MD, Haluk Tezcan, MD, Aubry Furrow, Lisa G. Shaffer, PhD, FACMG, Blake C. Ballif, PhD
Journal: Blood
Blood (2011) 118 (21): 2529.
https://doi.org/10.1182/blood.V118.21.2529.2529
Published: 2011
Journal Articles

Deletion of Two Contiguous Genes, Platelet GPIbβ (Glycoprotein Ibβ) and Septin SEPT5, in a Boy with Bernard-Soulier Syndrome and Developmental Delay: A Possible New Contiguous Gene Syndrome.

Ingrid Bartsch, PhD, Ina Hainmann, MD, Susanne Bläser, PhD, Anna Pavlova, MD, Johannes Oldenburg, MD, Anja Busse, Francois Lanza, PhD, Paquita Nurden, MD, PhD, Andrea Superti-Furga, MD, Barbara Zieger, MD
Journal: Blood
Blood (2006) 108 (11): 1097.
https://doi.org/10.1182/blood.V108.11.1097.1097
Published: 2006