Publications:

---

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TERT: R1086H; rs200288187

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.

Orphanet Journal Of Rare Diseases

Tometten, Mareike M; Kirschner, Martin M; Isfort, Susanne S; Berres, Marie-Luise ML; Brümmendorf, Tim H TH; Beier, Fabian F

Publication Date: 2021-09-26

Variant appearance in text: TERT: R1086H

PubMed Link: 34565437

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2024.pdf

View BVdb publication page

---

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: TERT: R1086H; rs200288187

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 6
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 7

View BVdb publication page

---

Clinical and genetic analysis of melanomas arising in acral sites.

European Journal Of Cancer (Oxford, England : 1990)

Zaremba, Anne A; Murali, Rajmohan R; Jansen, Philipp P; Möller, Inga I; Sucker, Antje A; Paschen, Annette A; Zimmer, Lisa L; Livingstone, Elisabeth E; Brinker, Titus J TJ; Hadaschik, Eva E; Franklin, Cindy C; Roesch, Alexander A; Ugurel, Selma S; Schadendorf, Dirk D; Griewank, Klaus G KG; Cosgarea, Ioana I

Publication Date: 2019-09

Variant appearance in text: TERT: R1086H

PubMed Link: 31419753

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pathogenic TERT promoter variants in telomere diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS

Publication Date: 2019-07

Variant appearance in text: TERT: 3257G>A; R1086H

PubMed Link: 30523342

Variant Present in the following documents:

• 41436_2018_385_MOESM1_ESM.pdf

View BVdb publication page

---

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Breast Cancer Research : Bcr

Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2018-01-09

Variant appearance in text: TERT: 3257G>A; Arg1086His; rs200288187

PubMed Link: 29316957

Variant Present in the following documents:

• 13058_2017_929_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---