Publications:

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Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.

Genome Medicine

Patrick, Matthew T MT; Bardhi, Redina R; Zhou, Wei W; Elder, James T JT; Gudjonsson, Johann E JE; Tsoi, Lam C LC

Publication Date: 2022-08-09

Variant appearance in text: SELENON: G315S

PubMed Link: 35945607

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1094.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: rs121908188

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.

Frontiers In Neurology

Zhang, Shu S; Lei, Lin L; Fan, Zhirong Z; Su, Shengyao S; Duo, Jianying J; Luan, Qinrong Q; Lu, Yan Y; Di, Li L; Wang, Min M; Da, Yuwei Y

Publication Date: 2021

Variant appearance in text: SELENON: 943G>A

PubMed Link: 34867752

Variant Present in the following documents:

• Main text
• fneur-12-766942.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: G315S

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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Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.

Nature Genetics

Barton, Alison R AR; Sherman, Maxwell A MA; Mukamel, Ronen E RE; Loh, Po-Ru PR

Publication Date: 2021-08

Variant appearance in text: rs121908188

PubMed Link: 34226706

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.

Nature Genetics

Barton, Alison R AR; Sherman, Maxwell A MA; Mukamel, Ronen E RE; Loh, Po-Ru PR

Publication Date: 2021-08

Variant appearance in text: rs121908188

PubMed Link: 34226706

Variant Present in the following documents:

• Main text

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: 943G>A

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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Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Annals Of Clinical And Translational Neurology

Silwal, Arpana A; Sarkozy, Anna A; Scoto, Mariacristina M; Ridout, Deborah D; Schmidt, Anne A; Laverty, Aidan A; Henriques, Matilde M; D'Argenzio, Luigi L; Main, Marion M; Mein, Rachael R; Manzur, Adnan Y AY; Abel, Francois F; Al-Ghamdi, Fouad F; Genetti, Casie A CA; Ardicli, Didem D; Haliloglu, Goknur G; Topaloglu, Haluk H; Beggs, Alan H AH; Muntoni, Francesco F

Publication Date: 2020-11

Variant appearance in text: SELENON: Gly315Ser

PubMed Link: 33037864

Variant Present in the following documents:

• Main text
• ACN3-7-2288.pdf

View BVdb publication page

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The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Neurology

Villar-Quiles, Rocio N RN; von der Hagen, Maja M; Métay, Corinne C; Gonzalez, Victoria V; Donkervoort, Sandra S; Bertini, Enrico E; Castiglioni, Claudia C; Chaigne, Denys D; Colomer, Jaume J; Cuadrado, Maria Luz ML; de Visser, Marianne M; Desguerre, Isabelle I; Eymard, Bruno B; Goemans, Nathalie N; Kaindl, Angela A; Lagrue, Emmanuelle E; Lütschg, Jürg J; Malfatti, Edoardo E; Mayer, Michèle M; Merlini, Luciano L; Orlikowski, David D; Reuner, Ulrike U; Salih, Mustafa A MA; Schlotter-Weigel, Beate B; Stoetter, Mechthild M; Straub, Volker V; Topaloglu, Haluk H; Urtizberea, J Andoni JA; van der Kooi, Anneke A; Wilichowski, Ekkehard E; Romero, Norma B NB; Fardeau, Michel M; Bönnemann, Carsten G CG; Estournet, Brigitte B; Richard, Pascale P; Quijano-Roy, Susana S; Schara, Ulrike U; Ferreiro, Ana A

Publication Date: 2020-09-15

Variant appearance in text: SEPN1: 943G>A

PubMed Link: 32796131

Variant Present in the following documents:

• Main text

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: SEPN1: 943G>A; rs121908188

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 943G>A; Gly315Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Human Mutation

Bachmann, Christoph C; Noreen, Faiza F; Voermans, Nicol C NC; Schär, Primo L PL; Vissing, John J; Fock, Johanna M JM; Bulk, Saskia S; Kusters, Benno B; Moore, Steven A SA; Beggs, Alan H AH; Mathews, Katherine D KD; Meyer, Megan M; Genetti, Casie A CA; Meola, Giovanni G; Cardani, Rosanna R; Mathews, Emma E; Jungbluth, Heinz H; Muntoni, Francesco F; Zorzato, Francesco F; Treves, Susan S

Publication Date: 2019-07

Variant appearance in text: SELENON: G315S

PubMed Link: 30932294

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: rs121908188

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

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

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: SEPN1: 943G>A

PubMed Link: 29907799

Variant Present in the following documents:

• Main text
• 41436_2018_Article_4.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: 943G>A; Gly315Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

Neurology. Genetics

Witting, Nanna N; Werlauff, Ulla U; Duno, Morten M; Vissing, John J

Publication Date: 2017-04

Variant appearance in text: SEPN1: Gly315Ser

PubMed Link: 28357410

Variant Present in the following documents:

• NG2016003640.pdf

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: G315S

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: 943G>A; rs121908188

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Threading the needle: getting selenocysteine into proteins.

Antioxidants & Redox Signaling

Donovan, Jesse J; Copeland, Paul R PR

Publication Date: 2010-04-01

Variant appearance in text: SEPN1: G315S

PubMed Link: 19747061

Variant Present in the following documents:

• Main text

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: 943G>A

PubMed Link: 19067361

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

American Journal Of Human Genetics

Ferreiro, Ana A; Quijano-Roy, Susana S; Pichereau, Claire C; Moghadaszadeh, Behzad B; Goemans, Nathalie N; Bönnemann, Carsten C; Jungbluth, Heinz H; Straub, Volker V; Villanova, Marcello M; Leroy, Jean-Paul JP; Romero, Norma B NB; Martin, Jean-Jacques JJ; Muntoni, Francesco F; Voit, Thomas T; Estournet, Brigitte B; Richard, Pascale P; Fardeau, Michel M; Guicheney, Pascale P

Publication Date: 2002-10

Variant appearance in text: SEPN1: G315S

PubMed Link: 12192640

Variant Present in the following documents:

• Main text

View BVdb publication page

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