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Journal Articles

Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita

Sushree Sangita Sahoo, MSc., Caitlin Roake, B.S., Liliana Rindle, MD, Claudia Rössig, MD, Markus Schmugge, MD, Victor B Pastor, M.Sc., Brigitte Strahm, MD, Marena R Niewisch, MD, Gunda Ruzaike, BSc., Steven Artandi, MD PhD, Charlotte M Niemeyer, Prof, MD, Melanie Börries, MD PhD, Hauke Busch, PhD, Marcin Wlodarski, MD
Journal: Blood
Blood (2016) 128 (22): 3890.
https://doi.org/10.1182/blood.V128.22.3890.3890
Published: 2016
Journal Articles

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Chaim Jalas, Anastasia Fedick, Bari J Ballew, PhD, Blanche P Alter, MD, MPH, Neelam Giri, MD, Simon Boulton, Kenneth Offit, John Petrini, PhD, Nathan Treff, Sharon A Savage, MD
Journal: Blood
Blood (2013) 122 (21): 1228.
https://doi.org/10.1182/blood.V122.21.1228.1228
Published: 2013
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

Germline Mutations in RTEL1 cause Dyskeratosis Congenita

Bari J. Ballew, PhD, Kevin B. Jacobs, M.S., Meredith Yeager, PhD, Neelam Giri, MD, Joseph F. Boland, Belynda D. Hicks, Laurie Burdett, PhD, Amy A. Hutchinson, Blanche P. Alter, MD, MPH, Sharon A. Savage, MD
Journal: Blood
Blood (2012) 120 (21): 515.
https://doi.org/10.1182/blood.V120.21.515.515
Published: 2012
Journal Articles

The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman- Diamond Syndrome: The NCI IBMFS Cohort.

Neelam Giri, Christine Mueller, Sarah Weinstein, Suvimol Hill, John Butman, Ekaterini Tsilou, Jeffrey Kim Hung, Sharon A. Savage, Blanche P. Alter
Journal: Blood
Blood (2008) 112 (11): 2043.
https://doi.org/10.1182/blood.V112.11.2043.2043
Published: 2008
Journal Articles

Central Nervous System Abnormalities in Dyskeratosis Congenita and Fanconi Anemia: Correlation with Clinical Phenotype and Aplastic Anemia.

Neelam Giri, MD, John A. Butman, MD, Meg F. Keil, Constantine A. Stratakis, MD, Blanche P. Alter, MD, MPH
Journal: Blood
Blood (2007) 110 (11): 1682.
https://doi.org/10.1182/blood.V110.11.1682.1682
Published: 2007
Journal Articles

Imatinib and Pregnancy.

S. Pye, Jorge Cortes, G. Rosti, P. Ault, T. Oliveto, R. Pilot, Hagop M. Kantarjian, Alan Hatfield, J. Apperley
Journal: Blood
Blood (2006) 108 (11): 431.
https://doi.org/10.1182/blood.V108.11.431.431
Published: 2006
Journal Articles

The Genetic and Phenotypic Diversity of Dyskeratosis Congenita.

Thomas J. Vulliamy, PhD, Anna Marrone, PhD, Amanda Walne, PhD, David Stevens, BSc, Philip J. Mason, PhD, Inderjeet S. Dokal, MD
Journal: Blood
Blood (2004) 104 (11): 169.
https://doi.org/10.1182/blood.V104.11.169.169
Published: 2004