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A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

Maria M. Gramatges, Xiaodong Qi, Ghadir S. Sasa, Julian J.-L. Chen, Alison A. Bertuch
Journal: Blood
Blood (2013) 121 (18): 3586–3593.
https://doi.org/10.1182/blood-2012-08-447755
Published: 2013
Includes: Supplemental data
Journal Articles

Constitutional Telomerase-Associated Gene Variants in Pediatric Acute Myeloid Leukemia (AML)

M. Monica Gramatges, MD, Ghadir S. Sasa, MD, Xiaodong Qi, Julian J-L Chen, PhD, Sharon E Plon, MD, PhD, Alison A. Bertuch, MD, PhD
Journal: Blood
Blood (2012) 120 (21): 1408.
https://doi.org/10.1182/blood.V120.21.1408.1408
Published: 2012
Journal Articles

A Homozygous Telomerase Reverse Transcriptase T Motif Variant Resulting in Markedly Reduced Telomerase Repeat Addition Processivity in Siblings with Hoyeraal Hreidarsson Syndrome

M. Monica Gramatges, MD, Xiaodong Qi, Ghadir S. Sasa, MD, Julian J-L Chen, PhD, Alison A. Bertuch, MD, PhD
Journal: Blood
Blood (2012) 120 (21): 1272.
https://doi.org/10.1182/blood.V120.21.1272.1272
Published: 2012
Journal Articles

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

Clinical Trials & Observations
Erin M. Parry, Jonathan K. Alder, Xiaodong Qi, Julian J.-L. Chen, Mary Armanios
Journal: Blood
Blood (2011) 117 (21): 5607–5611.
https://doi.org/10.1182/blood-2010-11-322149
Published: 2011
Includes: Supplemental data