Publications:

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Genome Medicine

Yépez, Vicente A VA; Gusic, Mirjana M; Kopajtich, Robert R; Mertes, Christian C; Smith, Nicholas H NH; Alston, Charlotte L CL; Ban, Rui R; Beblo, Skadi S; Berutti, Riccardo R; Blessing, Holger H; Ciara, Elżbieta E; Distelmaier, Felix F; Freisinger, Peter P; Häberle, Johannes J; Hayflick, Susan J SJ; Hempel, Maja M; Itkis, Yulia S YS; Kishita, Yoshihito Y; Klopstock, Thomas T; Krylova, Tatiana D TD; Lamperti, Costanza C; Lenz, Dominic D; Makowski, Christine C; Mosegaard, Signe S; Müller, Michaela F MF; Muñoz-Pujol, Gerard G; Nadel, Agnieszka A; Ohtake, Akira A; Okazaki, Yasushi Y; Procopio, Elena E; Schwarzmayr, Thomas T; Smet, Joél J; Staufner, Christian C; Stenton, Sarah L SL; Strom, Tim M TM; Terrile, Caterina C; Tort, Frederic F; Van Coster, Rudy R; Vanlander, Arnaud A; Wagner, Matias M; Xu, Manting M; Fang, Fang F; Ghezzi, Daniele D; Mayr, Johannes A JA; Piekutowska-Abramczuk, Dorota D; Ribes, Antonia A; Rötig, Agnès A; Taylor, Robert W RW; Wortmann, Saskia B SB; Murayama, Kei K; Meitinger, Thomas T; Gagneur, Julien J; Prokisch, Holger H

Publication Date: 2022-04-05

Variant appearance in text: SELENON: 1397G>A; Arg466Gln

PubMed Link: 35379322

Variant Present in the following documents:

• 13073_2022_1019_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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SEPN1-Related Myopathy: The Importance of Diagnosis and Challenges to Management of CMD in Resource Poor Settings.

Annals Of Indian Academy Of Neurology

Gajam, Siddhartha S; Maganthi, Madhuri M; Mathew, Ann Agnes AA; Rath, Suman S

Publication Date: 2021

Variant appearance in text: SEPN1: Arg466Gln

PubMed Link: 35359550

Variant Present in the following documents:

• AIAN-24-955.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SEPN1: R466Q

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: SEPN1: Arg466Gln

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Journal Of Clinical Medicine

Potulska-Chromik, Anna A; Jędrzejowska, Maria M; Gos, Monika M; Rosiak, Edyta E; Kierdaszuk, Biruta B; Maruszak, Aleksandra A; Opuchlik, Andrzej A; Zekanowski, Cezary C; Fichna, Jakub P JP

Publication Date: 2021-02-26

Variant appearance in text: SELENON: 1397G>A

PubMed Link: 33652732

Variant Present in the following documents:

• Main text
• jcm-10-00914.pdf

View BVdb publication page

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Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.

Cell Death And Differentiation

Filipe, Anne A; Chernorudskiy, Alexander A; Arbogast, Sandrine S; Varone, Ersilia E; Villar-Quiles, Rocío-Nur RN; Pozzer, Diego D; Moulin, Maryline M; Fumagalli, Stefano S; Cabet, Eva E; Dudhal, Swati S; De Simoni, Maria-Grazia MG; Denis, Raphaël R; Vadrot, Nathalie N; Dill, Corinne C; Giovarelli, Matteo M; Szweda, Luke L; De Palma, Clara C; Pinton, Paolo P; Giorgi, Carlotta C; Viscomi, Carlo C; Clementi, Emilio E; Missiroli, Sonia S; Boncompagni, Simona S; Zito, Ester E; Ferreiro, Ana A

Publication Date: 2021-01

Variant appearance in text: SELENON: 1397G>A

PubMed Link: 32661288

Variant Present in the following documents:

• Main text
• 41418_2020_Article_587.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: SEPN1: 1397G>A; rs121908185

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SELENON: 1397G>A; Arg466Gln; rs121908185

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Epitranscriptomic systems regulate the translation of reactive oxygen species detoxifying and disease linked selenoproteins.

Free Radical Biology & Medicine

Leonardi, Andrea A; Evke, Sara S; Lee, May M; Melendez, J Andres JA; Begley, Thomas J TJ

Publication Date: 2019-11-01

Variant appearance in text: SEPN1: 1397G>A

PubMed Link: 31476365

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SELENON: 1397G>A; Arg466Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.

Redox Biology

Varone, Ersilia E; Pozzer, Diego D; Di Modica, Simona S; Chernorudskiy, Alexander A; Nogara, Leonardo L; Baraldo, Martina M; Cinquanta, Mario M; Fumagalli, Stefano S; Villar-Quiles, Rocio Nur RN; De Simoni, Maria-Grazia MG; Blaauw, Bert B; Ferreiro, Ana A; Zito, Ester E

Publication Date: 2019-06

Variant appearance in text: SELENON: 1397G>A

PubMed Link: 30921636

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SELENON: 1397G>A; Arg466Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SEPN1: R466Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: SEPN1: 1397G>A; rs121908185

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Synthesis and decoding of selenocysteine and human health.

Croatian Medical Journal

Schmidt, Rachel L RL; Simonović, Miljan M

Publication Date: 2012-12

Variant appearance in text: SEPN1: R466Q

PubMed Link: 23275319

Variant Present in the following documents:

• Main text
• CroatMedJ_53_0535.pdf

View BVdb publication page

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A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

Human Mutation

Maiti, Baijayanta B; Arbogast, Sandrine S; Allamand, Valérie V; Moyle, Mark W MW; Anderson, Christine B CB; Richard, Pascale P; Guicheney, Pascale P; Ferreiro, Ana A; Flanigan, Kevin M KM; Howard, Michael T MT

Publication Date: 2009-03

Variant appearance in text: SEPN1: 1397G>A

PubMed Link: 19067361

Variant Present in the following documents:

• Main text

View BVdb publication page

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Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Jurynec, Michael J MJ; Xia, Ruohong R; Mackrill, John J JJ; Gunther, Derrick D; Crawford, Thomas T; Flanigan, Kevin M KM; Abramson, Jonathan J JJ; Howard, Michael T MT; Grunwald, David Jonah DJ

Publication Date: 2008-08-26

Variant appearance in text:

PubMed Link: 18713863

Variant Present in the following documents:

• Main text

View BVdb publication page

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