Publications:

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: NF1: 5036_5041del

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: NF1: 5031_5036del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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Molecular profiling of an osseous metastasis in glioblastoma during checkpoint inhibition: potential mechanisms of immune escape.

Acta Neuropathologica Communications

Mohme, Malte M; Maire, Cecile L CL; Schliffke, Simon S; Joosse, Simon A SA; Alawi, Malik M; Matschke, Jakob J; Schüller, Ulrich U; Dierlamm, Judith J; Martens, Tobias T; Pantel, Klaus K; Riethdorf, Sabine S; Lamszus, Katrin K; Westphal, Manfred M

Publication Date: 2020-03-09

Variant appearance in text: NF1: I1679_Y1680del

PubMed Link: 32151286

Variant Present in the following documents:

• Main text
• 40478_2020_Article_906.pdf

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