Publications:

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: TSC2: 922C>T; L308F

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1

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Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Human Mutation

Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M

Publication Date: 2020-04

Variant appearance in text: TSC2: 922C>T; R308W

PubMed Link: 31799751

Variant Present in the following documents:

• Main text
• HUMU-41-759.pdf

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Transient overexpression of exogenous APOBEC3A causes C-to-U RNA editing of thousands of genes.

Rna Biology

Sharma, Shraddha S; Patnaik, Santosh K SK; Kemer, Zeynep Z; Baysal, Bora E BE

Publication Date: 2017-05-04

Variant appearance in text: TSC2: R308W

PubMed Link: 27149507

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: TSC2: R308W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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