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

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

by Yne de Vries, Nikki Lwiwski, Marieke Levitus, Bertus Kuyt, Sara J. Israels, Fré Arwert, Michel Zwaan, Cheryl R. Greenberg, Blanche P. Alter, Hans Joenje, Hanne Meijers-Heijboer
Published 2012-01-01

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

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

by Ashley S. Thompson, Nusrat Saba, Lisa J. McReynolds, Saeeda Munir, Parvez Ahmed, Sumaira Sajjad, Kristine Jones, Meredith Yeager, Frank X. Donovan, Settara C. Chandrasekharappa, Blanche P. Alter, Sharon A. Savage, Sadia Rehman
Published 2021-07-01

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

by Douglas R Stewart, Alexander Pemov, Jennifer J Johnston, Julie C Sapp, Meredith Yeager, Ji He, Joseph F Boland, Laurie Burdett, Christina Brown, Richard A Gatti, Blanche P Alter, Leslie G Biesecker, Sharon A Savage
Published 2014-01-01

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

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

by Jung Kim, Wen Luo, Mingyi Wang, Talia Wegman-Ostrosky, Megan N. Frone, Jennifer J. Johnston, Michael L. Nickerson, Melissa Rotunno, Shengchao A. Li, Maria I. Achatz, Seth A. Brodie, Michael Dean, Kelvin C. de Andrade, Fernanda P. Fortes, Matthew Gianferante, Payal Khincha, Mary L. McMaster, Lisa J. McReynolds, Alexander Pemov, Maisa Pinheiro, Karina M. Santiago, Blanche P. Alter, Neil E. Caporaso, Shahinaz M. Gadalla, Lynn R. Goldin, Mark H. Greene, Jennifer Loud, Xiaohong R. Yang, Neal D. Freedman, Susan M. Gapstur, Mia M. Gaudet, Donato Calista, Paola Ghiorzo, Maria Concetta Fargnoli, Eduardo Nagore, Ketty Peris, Susana Puig, Maria Teresa Landi, Belynda Hicks, Bin Zhu, Jia Liu, Joshua N. Sampson, Stephen J. Chanock, Lisa J. Mirabello, Lindsay M. Morton, Leslie G. Biesecker, Margaret A. Tucker, Sharon A. Savage, Alisa M. Goldstein, Douglas R. Stewart
Published 2018-12-01