Publications:

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation

Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ

Publication Date: 2022-05-16

Variant appearance in text: TSC2: 3574C>T; Q1192*

PubMed Link: 35358092

Variant Present in the following documents:

• jci-132-155858-s186.xlsx, sheet 1

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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports

Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB

Publication Date: 2020-06-18

Variant appearance in text: TSC2: 3574C>T; Gln1192*

PubMed Link: 32555378

Variant Present in the following documents:

• 41598_2020_66588_MOESM1_ESM.pdf

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The genomic landscape of tuberous sclerosis complex.

Nature Communications

Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP

Publication Date: 2017-06-15

Variant appearance in text: TSC2: 3574C>T; Gln1192Ter

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

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Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.

The Journal Of Investigative Dermatology

Nathan, Neera N; Tyburczy, Magdalena E ME; Hamieh, Lana L; Wang, Ji-An JA; Brown, G Thomas GT; Richard Lee, Chyi-Chia CC; Kwiatkowski, David J DJ; Moss, Joel J; Darling, Thomas N TN

Publication Date: 2016-02

Variant appearance in text: TSC2: 3574C>T; Gln1192*

PubMed Link: 26824744

Variant Present in the following documents:

• Main text
• NIHMS738379-supplement-supplement_1.pdf
• nihms738379.pdf

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