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: 1A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 1A>G; Met1Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs1060500252

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Genes

Napolitano, Filomena F; Dell'Aquila, Milena M; Terracciano, Chiara C; Franzese, Giuseppina G; Gentile, Maria Teresa MT; Piluso, Giulio G; Santoro, Claudia C; Colavito, Davide D; Patanè, Anna A; De Blasiis, Paolo P; Sampaolo, Simone S; Paladino, Simona S; Melone, Mariarosa Anna Beatrice MAB

Publication Date: 2022-06-23

Variant appearance in text: NF1: 1A>G

PubMed Link: 35885913

Variant Present in the following documents:

• Main text
• genes-13-01130.pdf

View BVdb publication page

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Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study.

Current Issues In Molecular Biology

Togi, Sumihito S; Ura, Hiroki H; Niida, Yo Y

Publication Date: 2021-07-23

Variant appearance in text: NF1: 1A>G; Met1Val; rs1060500252

PubMed Link: 34449562

Variant Present in the following documents:

• cimb-43-00057.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: NF1: 1A>G

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1).

Plos One

Vasiljevski, Emily R ER; Houweling, Peter J PJ; Rupasinghe, Thusitha T; Kaur, Tarneet T; Summers, Matthew A MA; Roessner, Ute U; Little, David G DG; Schindeler, Aaron A

Publication Date: 2020

Variant appearance in text: NF1: 1A>G

PubMed Link: 32810864

Variant Present in the following documents:

• pone.0237097.pdf

View BVdb publication page

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Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Molecular Genetics & Genomic Medicine

Witkowski, Leora L; Dillon, Mitchell W MW; Murphy, Elissa E; S Lebo, Matthew M; Mason-Suares, Heather H

Publication Date: 2020-04

Variant appearance in text: NF1: 1A>G

PubMed Link: 32107864

Variant Present in the following documents:

• MGG3-8-e1180.pdf

View BVdb publication page

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