Publications:

Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.

Neurology. Genetics

Delourme, Megane M; Charlene, Chaix C; Gerard, Laurene L; Ganne, Benjamin B; Perrin, Pierre P; Vovan, Catherine C; Bertaux, Karine K; Nguyen, Karine K; Bernard, Rafaëlle R; Magdinier, Frederique F

Publication Date: 2023-06

Variant appearance in text: 225: p13E

PubMed Link: 37200893

Variant Present in the following documents:

• NXG-2023-000019.pdf

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Identification of an alpha-1 antitrypsin variant with enhanced specificity for factor XIa by phage display, bacterial expression, and combinatorial mutagenesis.

Scientific Reports

Bhakta, Varsha V; Hamada, Mostafa M; Nouanesengsy, Amy A; Lapierre, Jessica J; Perruzza, Darian L DL; Sheffield, William P WP

Publication Date: 2021-03-10

Variant appearance in text: 225: P13E

PubMed Link: 33692375

Variant Present in the following documents:

• 41598_2021_Article_84618.pdf

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Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics

Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC

Publication Date: 2018-10

Variant appearance in text: 225: P13E

PubMed Link: 30224644

Variant Present in the following documents:

• NIHMS1501645-supplement-4.xlsx, sheet 1

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Hybridization analysis of D4Z4 repeat arrays linked to FSHD.

Chromosoma

Ehrlich, Melanie M; Jackson, Kesmic K; Tsumagari, Koji K; Camaño, Pilar P; Lemmers, Richard J F L RJ

Publication Date: 2007-04

Variant appearance in text: 225: p13E

PubMed Link: 17131163

Variant Present in the following documents:

• Main text

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