Publications:

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

Acta Neuropathologica

García-Cazorla, Àngels À; Verdura, Edgard E; Juliá-Palacios, Natalia N; Anderson, Eric N EN; Goicoechea, Leire L; Planas-Serra, Laura L; Tsogtbaatar, Enkhtuul E; Dsouza, Nikita R NR; Schlüter, Agatha A; Urreizti, Roser R; Tarnowski, Jessica M JM; Gavrilova, Ralitza H RH; , ; Ruiz, Montserrat M; Rodríguez-Palmero, Agustí A; Fourcade, Stéphane S; Cogné, Benjamin B; Besnard, Thomas T; Vincent, Marie M; Bézieau, Stéphane S; Folmes, Clifford D CD; Zimmermann, Michael T MT; Klee, Eric W EW; Pandey, Udai Bhan UB; Artuch, Rafael R; Cousin, Margot A MA; Pujol, Aurora A

Publication Date: 2020-12

Variant appearance in text: F2: 1304A>C

PubMed Link: 33015733

Variant Present in the following documents:

• 401_2020_2223_MOESM2_ESM.pdf

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A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.

Frontiers In Genetics

Vaché, Christel C; Puechberty, Jacques J; Faugère, Valérie V; Darmaisin, Floriane F; Liquori, Alessandro A; Baux, David D; Blanchet, Catherine C; Garcia-Garcia, Gema G; Meunier, Isabelle I; Pellestor, Franck F; Koenig, Michel M; Roux, Anne-Françoise AF

Publication Date: 2020

Variant appearance in text: F2: 1304A>C

PubMed Link: 32714370

Variant Present in the following documents:

• Main text
• fgene-11-00623.pdf

View BVdb publication page