Publications:

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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: 288+1137C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1
• media-8.xlsx, sheet 1

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers

Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M

Publication Date: 2022-12-22

Variant appearance in text: NF1: 288+1137C>T

PubMed Link: 36612057

Variant Present in the following documents:

• cancers-15-00059.pdf

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: NF1: 288+1137C>T

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

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Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Genes

Ha, Changhee C; Kim, Jong-Won JW; Jang, Ja-Hyun JH

Publication Date: 2021-08-25

Variant appearance in text: NF1: 288+1137C>T

PubMed Link: 34573290

Variant Present in the following documents:

• Main text
• genes-12-01308.pdf

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Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Genes

Bianchessi, Donatella D; Ibba, Maria Cristina MC; Saletti, Veronica V; Blasa, Stefania S; Langella, Tiziana T; Paterra, Rosina R; Cagnoli, Giulia Anna GA; Melloni, Giulia G; Scuvera, Giulietta G; Natacci, Federica F; Cesaretti, Claudia C; Finocchiaro, Gaetano G; Eoli, Marica M

Publication Date: 2020-06-19

Variant appearance in text: NF1: 288+1137C>T

PubMed Link: 32575496

Variant Present in the following documents:

• Main text
• genes-11-00671.pdf

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Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Journal Of Applied Genetics

Anna, Abramowicz A; Monika, Gos G

Publication Date: 2018-08

Variant appearance in text: NF1: 288+1137C>T

PubMed Link: 29680930

Variant Present in the following documents:

• Main text
• 13353_2018_Article_444.pdf

View BVdb publication page

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