Publications:

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

Human Mutation

DeRoin, Lia L; Cavalcante de Andrade Silva, Marcela M; Petras, Kristin K; Arndt, Kelly K; Phillips, Nathaniel N; Wanjari, Pankhuri P; Subramanian, Hari Prasanna HP; Montes, David D; McElherne, James J; Theissen, Megan M; Briese, Renee R; Das, Soma S; Godley, Lucy A LA; Segal, Jeremy J; Del Gaudio, Daniela D; Fitzpatrick, Carrie C; Churpek, Jane E JE

Publication Date: 2022-07

Variant appearance in text: TERT: 1891C>T; Arg631Trp

PubMed Link: 35419889

Variant Present in the following documents:

• HUMU-43-950-s001.xlsx, sheet 3

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Acquired somatic variants in inherited myeloid malignancies.

Leukemia

Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J

Publication Date: 2022-05

Variant appearance in text: TERT: R631W

PubMed Link: 35140362

Variant Present in the following documents:

• 41375_2022_1515_MOESM4_ESM.xlsx, sheet 1

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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: 1891C>T; R631W

PubMed Link: 33035329

Variant Present in the following documents:

• Main text

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TERT: R631W

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.

Plos One

Pereboeva, Larisa L; Hubbard, Meredith M; Goldman, Frederick D FD; Westin, Erik R ER

Publication Date: 2016

Variant appearance in text: TERT: 1891C>T; R631W

PubMed Link: 26859482

Variant Present in the following documents:

• Main text
• pone.0148793.pdf

View BVdb publication page