Publications:

Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.

Blood Advances

Feurstein, Simone S; Adegunsoye, Ayodeji A; Mojsilovic, Danijela D; Vij, Rekha R; West DePersia, Allison H AH; Rajagopal, Padma Sheila PS; Osman, Afaf A; Collins, Robert H RH; Kim, Raymond H RH; Gore, Steven D SD; Greenberg, Peter P; Godley, Lucy A LA; Li, Zejuan Z; Del Gaudio, Daniela D; Subramanian, Hari Prasanna HP; Das, Soma S; Walsh, Tom T; Gulsuner, Suleyman S; Segal, Jeremy P JP; Husain, Aliya N AN; Gurbuxani, Sandeep S; King, Mary-Claire MC; Strek, Mary E ME; Churpek, Jane E JE

Publication Date: 2020-10-13

Variant appearance in text: TERT: 1990G>C; V664L

PubMed Link: 33035329

Variant Present in the following documents:

• Main text

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Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine

Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ

Publication Date: 2019-08-16

Variant appearance in text: TERT: Val664Leu

PubMed Link: 31426295

Variant Present in the following documents:

• Main text
• jcm-08-01232.pdf

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Diagnostic utility of telomere length testing in a hospital-based setting.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Alder, Jonathan K JK; Hanumanthu, Vidya Sagar VS; Strong, Margaret A MA; DeZern, Amy E AE; Stanley, Susan E SE; Takemoto, Clifford M CM; Danilova, Ludmila L; Applegate, Carolyn D CD; Bolton, Stephen G SG; Mohr, David W DW; Brodsky, Robert A RA; Casella, James F JF; Greider, Carol W CW; Jackson, J Brooks JB; Armanios, Mary M

Publication Date: 2018-03-06

Variant appearance in text: TERT: Val664Leu

PubMed Link: 29463756

Variant Present in the following documents:

• pnas.201720427SI.pdf

View BVdb publication page