Publications:

A scoping review and proposed workflow for multi-omic rare disease research.

Orphanet Journal Of Rare Diseases

Kerr, Katie K; McAneney, Helen H; Smyth, Laura J LJ; Bailie, Caitlin C; McKee, Shane S; McKnight, Amy Jayne AJ

Publication Date: 2020-04-28

Variant appearance in text: PTEN: Arg130Cys

PubMed Link: 32345347

Variant Present in the following documents:

• 13023_2020_1376_MOESM1_ESM.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: R130C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene.

Journal Of Experimental & Clinical Cancer Research : Cr

Mendes Oliveira, Duarte D; Grillone, Katia K; Mignogna, Chiara C; De Falco, Valentina V; Laudanna, Carmelo C; Biamonte, Flavia F; Locane, Rosa R; Corcione, Francesco F; Fabozzi, Massimiliano M; Sacco, Rosario R; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-04-17

Variant appearance in text: PTEN: R130C

PubMed Link: 29665843

Variant Present in the following documents:

• Main text
• 13046_2018_Article_746.pdf

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