Publications:

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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: POMT2: Y666C; rs200198778

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics

Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L

Publication Date: 2021-12-02

Variant appearance in text: POMT2: Y666C

PubMed Link: 34856988

Variant Present in the following documents:

• 12920_2021_880_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics

Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L

Publication Date: 2021-12-02

Variant appearance in text: POMT2: Y666C

PubMed Link: 34856988

Variant Present in the following documents:

• 12920_2021_880_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: POMT2: 1997A>G; Tyr666Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

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

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: POMT2: 1997A>G; Y666C

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: POMT2: 1997A>G; Y666C

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).

Neuromuscular Disorders : Nmd

Gonzalez-Perez, Paloma P; Smith, Cheryl C; Sebetka, Wendy L WL; Gedlinske, Amber A; Perlman, Seth S; Mathews, Katherine D KD

Publication Date: 2020-03

Variant appearance in text: POMT2: 1997A>G

PubMed Link: 32115343

Variant Present in the following documents:

• Main text
• nihms-1645197.pdf

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: POMT2: 1997A>G; Tyr666Cys; rs200198778

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.

Nature Structural & Molecular Biology

Bai, Lin L; Kovach, Amanda A; You, Qinglong Q; Kenny, Alanna A; Li, Huilin H

Publication Date: 2019-08

Variant appearance in text: POMT2: Y666C

PubMed Link: 31285605

Variant Present in the following documents:

• NIHMS1530499-supplement-2.pdf

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: POMT2: 1997A>G; Tyr666Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: POMT2: Y666C; rs200198778

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Skeletal Muscle

Johnson, Katherine K; Bertoli, Marta M; Phillips, Lauren L; Töpf, Ana A; Van den Bergh, Peter P; Vissing, John J; Witting, Nanna N; Nafissi, Shahriar S; Jamal-Omidi, Shirin S; Łusakowska, Anna A; Kostera-Pruszczyk, Anna A; Potulska-Chromik, Anna A; Deconinck, Nicolas N; Wallgren-Pettersson, Carina C; Strang-Karlsson, Sonja S; Colomer, Jaume J; Claeys, Kristl G KG; De Ridder, Willem W; Baets, Jonathan J; von der Hagen, Maja M; Fernández-Torrón, Roberto R; Zulaica Ijurco, Miren M; Espinal Valencia, Juan Bautista JB; Hahn, Andreas A; Durmus, Hacer H; Willis, Tracey T; Xu, Liwen L; Valkanas, Elise E; Mullen, Thomas E TE; Lek, Monkol M; MacArthur, Daniel G DG; Straub, Volker V

Publication Date: 2018-07-30

Variant appearance in text: POMT2: 1997A>G

PubMed Link: 30060766

Variant Present in the following documents:

• Main text
• 13395_2018_Article_170.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: POMT2: 1997A>G; Tyr666Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: POMT2: 1997A>G; Y666C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

Orphanet Journal Of Rare Diseases

Lévesque, Sébastien S; Auray-Blais, Christiane C; Gravel, Elaine E; Boutin, Michel M; Dempsey-Nunez, Laura L; Jacques, Pierre-Etienne PE; Chenier, Sébastien S; Larue, Sandrine S; Rioux, Marie-France MF; Al-Hertani, Walla W; Nadeau, Amelie A; Mathieu, Jean J; Maranda, Bruno B; Désilets, Valérie V; Waters, Paula J PJ; Keutzer, Joan J; Austin, Stephanie S; Kishnani, Priya P

Publication Date: 2016-01-25

Variant appearance in text: POMT2: 1997A>G; Tyr666Cys

PubMed Link: 26809617

Variant Present in the following documents:

• Main text
• 13023_2016_Article_390.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: POMT2: Y666C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: POMT2: Y666C

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 13

View BVdb publication page

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Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

European Journal Of Human Genetics : Ejhg

Martinez, Hugo R HR; Craigen, William J WJ; Ummat, Monika M; Adesina, Adekunle M AM; Lotze, Timothy E TE; Jefferies, John L JL

Publication Date: 2014-04

Variant appearance in text: POMT2: 1997A>G; Tyr666Cys

PubMed Link: 24002165

Variant Present in the following documents:

• Main text

View BVdb publication page

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Nature Genetics

Willer, Tobias T; Lee, Hane H; Lommel, Mark M; Yoshida-Moriguchi, Takako T; de Bernabe, Daniel Beltran Valero DB; Venzke, David D; Cirak, Sebahattin S; Schachter, Harry H; Vajsar, Jiri J; Voit, Thomas T; Muntoni, Francesco F; Loder, Andrea S AS; Dobyns, William B WB; Winder, Thomas L TL; Strahl, Sabine S; Mathews, Katherine D KD; Nelson, Stanley F SF; Moore, Steven A SA; Campbell, Kevin P KP

Publication Date: 2012-05

Variant appearance in text: POMT2: 1997A>G

PubMed Link: 22522420

Variant Present in the following documents:

• NIHMS365606-supplement-1.pdf

View BVdb publication page

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