Publications:

Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.

Plos Neglected Tropical Diseases

Borda, Victor V; da Silva Francisco Junior, Ronaldo R; Carvalho, Joseane B JB; Morais, Guilherme L GL; Duque Rossi, Átila Á; Pezzuto, Paula P; Azevedo, Girlene S GS; Schamber-Reis, Bruno L BL; Portari, Elyzabeth A EA; Melo, Adriana A; Moreira, Maria Elisabeth L MEL; Guida, Letícia C LC; Cunha, Daniela P DP; Gomes, Leonardo L; Vasconcelos, Zilton F M ZFM; Faucz, Fabio R FR; Tanuri, Amilcar A; Stratakis, Constantine A CA; Aguiar, Renato S RS; Cardoso, Cynthia Chester CC; Vasconcelos, Ana Tereza Ribeiro de ATR

Publication Date: 2021-06

Variant appearance in text: TERT: Pro524Ala; rs898648592

PubMed Link: 34125832

Variant Present in the following documents:

• pntd.0009507.s007.xlsx, sheet 1

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High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Human Genetics

Norris, Kevin K; Walne, Amanda J AJ; Ponsford, Mark J MJ; Cleal, Kez K; Grimstead, Julia W JW; Ellison, Alicia A; Alnajar, Jenna J; Dokal, Inderjeet I; Vulliamy, Tom T; Baird, Duncan M DM

Publication Date: 2021-06

Variant appearance in text: TERT: 1570C>G; Pro524Ala

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

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Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.

Haematologica

Collopy, Laura C LC; Walne, Amanda J AJ; Vulliamy, Tom J TJ; Dokal, Inderjeet S IS

Publication Date: 2014-07

Variant appearance in text: TERT: 1570C>G; Pro524Ala

PubMed Link: 24763404

Variant Present in the following documents:

• Main text

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