Publications:

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: RYR1: 4225C>T; Arg1409*

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

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In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Acta Neuropathologica Communications

Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I

Publication Date: 2020-11-11

Variant appearance in text: RYR1: R1409*

PubMed Link: 33176865

Variant Present in the following documents:

• Main text
• 40478_2020_Article_1068.pdf

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications

Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB

Publication Date: 2019-01-05

Variant appearance in text: RYR1: 4225C>T; Arg1409Ter; rs587784376

PubMed Link: 30611313

Variant Present in the following documents:

• Main text
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 2
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 8
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 7
• 40478_2018_Article_655.pdf
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 6
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 3
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page