Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

by Neelam Giri, Sandhiya Ravichandran, Youjin Wang, Shahinaz M. Gadalla, Blanche P. Alter, Joseph Fontana, Sharon A. Savage
Published 2019-11-01

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

by Payal P. Khincha, Casey L. Dagnall, Belynda Hicks, Kristine Jones, Abraham Aviv, Masayuki Kimura, Hormuzd Katki, Geraldine Aubert, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Shahinaz M. Gadalla
Published 2017-08-01

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

by Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini
Published 2013-08-01