Publications:

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: TSC2: 848+281C>T

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

European Journal Of Human Genetics : Ejhg

Bertoli-Avella, Aida M AM; Beetz, Christian C; Ameziane, Najim N; Rocha, Maria Eugenia ME; Guatibonza, Pilar P; Pereira, Catarina C; Calvo, Maria M; Herrera-Ordonez, Natalia N; Segura-Castel, Monica M; Diego-Alvarez, Dan D; Zawada, Michal M; Kandaswamy, Krishna K KK; Werber, Martin M; Paknia, Omid O; Zielske, Susan S; Ugrinovski, Dimitar D; Warnack, Gitte G; Kampe, Kapil K; Iurașcu, Marius-Ionuț MI; Cozma, Claudia C; Vogel, Florian F; Alhashem, Amal A; Hertecant, Jozef J; Al-Shamsi, Aisha M AM; Alswaid, Abdulrahman Faiz AF; Eyaid, Wafaa W; Al Mutairi, Fuad F; Alfares, Ahmed A; Albalwi, Mohammed A MA; Alfadhel, Majid M; Al-Sannaa, Nouriya Abbas NA; Reardon, Willie W; Alanay, Yasemin Y; Rolfs, Arndt A; Bauer, Peter P

Publication Date: 2021-01

Variant appearance in text: TSC2: 848+281C>T

PubMed Link: 32860008

Variant Present in the following documents:

• Main text
• 41431_2020_Article_713.pdf

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Plos Genetics

Tyburczy, Magdalena E ME; Dies, Kira A KA; Glass, Jennifer J; Camposano, Susana S; Chekaluk, Yvonne Y; Thorner, Aaron R AR; Lin, Ling L; Krueger, Darcy D; Franz, David N DN; Thiele, Elizabeth A EA; Sahin, Mustafa M; Kwiatkowski, David J DJ

Publication Date: 2015-11

Variant appearance in text: TSC2: 848+281C>T

PubMed Link: 26540169

Variant Present in the following documents:

• Main text
• pgen.1005637.pdf
• pgen.1005637.s005.pdf

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