Publications:

TadA reprogramming to generate potent miniature base editors with high precision.

Nature Communications

Zhang, Shuqian S; Song, Liting L; Yuan, Bo B; Zhang, Cheng C; Cao, Jixin J; Chen, Jinlong J; Qiu, Jiayi J; Tai, Yilin Y; Chen, Jingqi J; Qiu, Zilong Z; Zhao, Xing-Ming XM; Cheng, Tian-Lin TL

Publication Date: 2023-01-26

Variant appearance in text: SCN1A: C345Y

PubMed Link: 36702845

Variant Present in the following documents:

• Main text
• 41467_2023_Article_36004.pdf

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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: SCN1A: C345Y

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Severe Myoclonic Epilepsy in Infancy - Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases.

Molecular Syndromology

Martin, P P; Rautenstrauβ, B B; Abicht, A A; Fahrbach, J J; Koster, S S

Publication Date: 2010

Variant appearance in text: SCN1A: Cys345Tyr

PubMed Link: 22140375

Variant Present in the following documents:

• Main text

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