Publications:

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Molecular subtypes of ALS are associated with differences in patient prognosis.

Nature Communications

Eshima, Jarrett J; O'Connor, Samantha A SA; Marschall, Ethan E; , ; Bowser, Robert R; Plaisier, Christopher L CL; Smith, Barbara S BS

Publication Date: 2023-01-06

Variant appearance in text: ANG: I70V

PubMed Link: 36609402

Variant Present in the following documents:

• 41467_2022_35494_MOESM17_ESM.xlsx, sheet 29

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NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.

Frontiers In Neuroscience

Riva, Nilo N; Pozzi, Laura L; Russo, Tommaso T; Pipitone, Giovanni Battista GB; Schito, Paride P; Domi, Teuta T; Agosta, Federica F; Quattrini, Angelo A; Carrera, Paola P; Filippi, Massimo M

Publication Date: 2022

Variant appearance in text: ANG: Ile70Val

PubMed Link: 35495032

Variant Present in the following documents:

• Main text
• fnins-16-833051.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: ANG: I70V; rs121909541

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 3
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Assessment of ANG variants in Parkinson's disease.

Neurobiology Of Aging

Grenn, Francis P FP; Moore, Anni A; Bandres-Ciga, Sara S; Krohn, Lynne L; Blauwendraat, Cornelis C; ,

Publication Date: 2021-08

Variant appearance in text: ANG: I70V; rs121909541

PubMed Link: 33875291

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ANG: I70V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: ANG: 208A>G

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Journal Of Clinical Medicine

Pensato, Viviana V; Magri, Stefania S; Bella, Eleonora Dalla ED; Tannorella, Pierpaola P; Bersano, Enrica E; Sorarù, Gianni G; Gatti, Marta M; Ticozzi, Nicola N; Taroni, Franco F; Lauria, Giuseppe G; Mariotti, Caterina C; Gellera, Cinzia C

Publication Date: 2020-02-03

Variant appearance in text: ANG: 208A>G; Ile70Val; rs121909541

PubMed Link: 32028661

Variant Present in the following documents:

• jcm-09-00412-s001.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: ANG: 208A>G; Ile70Val; rs121909541

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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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: ANG: I70V; rs121909541

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: ANG: 208A>G; I70V; rs121909541

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Journal Of Neurology, Neurosurgery, And Psychiatry

Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Jones, Nick N; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2018-08

Variant appearance in text: ANG: I70V

PubMed Link: 29332010

Variant Present in the following documents:

• jnnp-2017-317234supp001.pdf

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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research

Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2017-01

Variant appearance in text: ANG: I70V

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 7
• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 7

View BVdb publication page

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RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord.

Plos One

Brohawn, David G DG; O'Brien, Laura C LC; Bennett, James P JP

Publication Date: 2016

Variant appearance in text: ANG: I70V

PubMed Link: 27487029

Variant Present in the following documents:

• pone.0160520.s017.xlsx, sheet 1

View BVdb publication page

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Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Translational Neurodegeneration

Yamashita, Satoshi S; Ando, Yukio Y

Publication Date: 2015

Variant appearance in text: ANG: 208A>G

PubMed Link: 26213621

Variant Present in the following documents:

• 40035_2015_36_MOESM1_ESM.xlsx, sheet 1

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: ANG: I70V

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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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs121909541

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

Molecular Neurodegeneration

van Blitterswijk, Marka M; Mullen, Bianca B; Wojtas, Aleksandra A; Heckman, Michael G MG; Diehl, Nancy N NN; Baker, Matthew C MC; DeJesus-Hernandez, Mariely M; Brown, Patricia H PH; Murray, Melissa E ME; Hsiung, Ging-Yuek R GY; Stewart, Heather H; Karydas, Anna M AM; Finger, Elizabeth E; Kertesz, Andrew A; Bigio, Eileen H EH; Weintraub, Sandra S; Mesulam, Marsel M; Hatanpaa, Kimmo J KJ; White, Charles L CL; Neumann, Manuela M; Strong, Michael J MJ; Beach, Thomas G TG; Wszolek, Zbigniew K ZK; Lippa, Carol C; Caselli, Richard R; Petrucelli, Leonard L; Josephs, Keith A KA; Parisi, Joseph E JE; Knopman, David S DS; Petersen, Ronald C RC; Mackenzie, Ian R IR; Seeley, William W WW; Grinberg, Lea T LT; Miller, Bruce L BL; Boylan, Kevin B KB; Graff-Radford, Neill R NR; Boeve, Bradley F BF; Dickson, Dennis W DW; Rademakers, Rosa R

Publication Date: 2014-09-20

Variant appearance in text: rs121909541

PubMed Link: 25239657

Variant Present in the following documents:

• Main text
• 13024_2014_Article_548.pdf

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: ANG: 208A>G; I70V; rs121909541

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

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