Publications:

Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families.

Genes

Zrzavy, Tobias T; Leutmezer, Fritz F; Kristoferitsch, Wolfgang W; Kornek, Barbara B; Schneider, Christine C; Rommer, Paulus P; Berger, Thomas T; Zimprich, Alexander A

Publication Date: 2020-08-25

Variant appearance in text: TERF2: 1492G>A; Glu498Lys; rs150757154

PubMed Link: 32854198

Variant Present in the following documents:

• genes-11-00988-s001.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: TERF2: E498K

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 58

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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer

Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,

Publication Date: 2019-05-15

Variant appearance in text: TERF2: 1492G>A; Glu498Lys

PubMed Link: 30414346

Variant Present in the following documents:

• Main text

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Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.

Journal Of Clinical Laboratory Analysis

Guacci, Anna A; Cordella, Angela A; Rocco, Teresa T; Giurato, Giorgio G; Nassa, Giovanni G; Rizzo, Francesca F; Carlomagno, Chiara C; Pepe, Stefano S; Tarallo, Roberta R; Weisz, Alessandro A

Publication Date: 2018-07

Variant appearance in text: rs150757154

PubMed Link: 29484706

Variant Present in the following documents:

• Main text

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: TERF2: E498K; rs150757154

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2

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