Publications:

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TSC1: M224R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TSC1: M224R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: TSC1: M224R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC1: M224R

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

European Journal Of Human Genetics : Ejhg

Nellist, Mark M; van den Heuvel, Diana D; Schluep, Diane D; Exalto, Carla C; Goedbloed, Miriam M; Maat-Kievit, Anneke A; van Essen, Ton T; van Spaendonck-Zwarts, Karin K; Jansen, Floor F; Helderman, Paula P; Bartalini, Gabriella G; Vierimaa, Outi O; Penttinen, Maila M; van den Ende, Jenneke J; van den Ouweland, Ans A; Halley, Dicky D

Publication Date: 2009-03

Variant appearance in text: TSC1: 671T>G; M224R

PubMed Link: 18830229

Variant Present in the following documents:

• Main text

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Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

Human Molecular Genetics

Pymar, Louis S LS; Platt, Fiona M FM; Askham, Jon M JM; Morrison, Ewan E EE; Knowles, Margaret A MA

Publication Date: 2008-07-01

Variant appearance in text: TSC1: M224R

PubMed Link: 18397877

Variant Present in the following documents:

• Main text
• ddn098.pdf

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