Publications:

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Genetic Spectrum of Inherited Neuropathies in India.

Annals Of Indian Academy Of Neurology

Sharma, Shivani S; Govindaraj, Periyasamy P; Chickabasaviah, Yasha T YT; Siram, Ramesh R; Shroti, Akhilesh A; Seshagiri, Doniparthi V DV; Debnath, Monojit M; Bindu, Parayil S PS; Taly, Arun B AB; Nagappa, Madhu M

Publication Date: 2022

Variant appearance in text: MFN2: R468H

PubMed Link: 35936615

Variant Present in the following documents:

• AIAN-25-407.pdf

View BVdb publication page

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Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications

Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH

Publication Date: 2022-05-04

Variant appearance in text: MFN2: 1403G>A; Arg468His; rs138382758

PubMed Link: 35508466

Variant Present in the following documents:

• 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.

Case Reports In Pediatrics

Comella, M M; Collotta, A A; Pavone, V V; Ciccia, L L; Bellinvia, A A; Cerruto, C C; Biondi, M G L MGL; Pisani, F F; Pavone, P P

Publication Date: 2022

Variant appearance in text: MFN2: 1403G>A; Arg468His

PubMed Link: 35449525

Variant Present in the following documents:

• CRIPE2022-3793226.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: MFN2: R468H; rs138382758

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine

van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J

Publication Date: 2021-09-16

Variant appearance in text: MFN2: 1403G>A; R468H

PubMed Link: 34531397

Variant Present in the following documents:

• 41525_2021_238_MOESM1_ESM.pdf

View BVdb publication page

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Next-Generation Sequencing Technologies and Neurogenetic Diseases.

Life (Basel, Switzerland)

Sun, Hui H; Shen, Xiao-Rong XR; Fang, Zi-Bing ZB; Jiang, Zong-Zhi ZZ; Wei, Xiao-Jing XJ; Wang, Zi-Yi ZY; Yu, Xue-Fan XF

Publication Date: 2021-04-19

Variant appearance in text: MFN2: 1403G>A

PubMed Link: 33921670

Variant Present in the following documents:

• Main text

View BVdb publication page

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One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.

Brain Sciences

Miressi, Federica F; Magdelaine, Corinne C; Cintas, Pascal P; Bourthoumieux, Sylvie S; Nizou, Angélique A; Derouault, Paco P; Favreau, Frédéric F; Sturtz, Franck F; Faye, Pierre-Antoine PA; Lia, Anne-Sophie AS

Publication Date: 2020-12-15

Variant appearance in text: MFN2: 1403G>A; Arg468His

PubMed Link: 33333791

Variant Present in the following documents:

• Main text
• brainsci-10-00986.pdf

View BVdb publication page

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: MFN2: 1403G>A; Arg468His

PubMed Link: 32483926

Variant Present in the following documents:

• AOS-98-e1034-s012.xlsx, sheet 1

View BVdb publication page

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Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

International Journal Of Molecular Sciences

Scarlino, Stefania S; Domi, Teuta T; Pozzi, Laura L; Romano, Alessandro A; Pipitone, Giovanni Battista GB; Falzone, Yuri Matteo YM; Mosca, Lorena L; Penco, Silvana S; Lunetta, Christian C; Sansone, Valeria V; Tremolizzo, Lucio L; Fazio, Raffaella R; Agosta, Federica F; Filippi, Massimo M; Carrera, Paola P; Riva, Nilo N; Quattrini, Angelo A

Publication Date: 2020-05-08

Variant appearance in text: MFN2: 1403G>A; Arg468His; rs138382758

PubMed Link: 32397312

Variant Present in the following documents:

• Main text
• ijms-21-03346-s001.pdf
• ijms-21-03346.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: MFN2: 1403G>A; Arg468His; rs138382758

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: MFN2: R468H

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: MFN2: 1403G>A; Arg468His

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: MFN2: 1403G>A; Arg468His

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Predicting disease-causing variant combinations.

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

Papadimitriou, Sofia S; Gazzo, Andrea A; Versbraegen, Nassim N; Nachtegael, Charlotte C; Aerts, Jan J; Moreau, Yves Y; Van Dooren, Sonia S; Nowé, Ann A; Smits, Guillaume G; Lenaerts, Tom T

Publication Date: 2019-06-11

Variant appearance in text: rs138382758

PubMed Link: 31127050

Variant Present in the following documents:

• pnas.1815601116.sapp.pdf

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: MFN2: 1403G>A; Arg468His; rs138382758

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Human Mutation

Saghira, Cima C; Bis, Dana M DM; Stanek, David D; Strickland, Alleene A; Herrmann, David N DN; Reilly, Mary M MM; Scherer, Steven S SS; Shy, Michael E ME; , ; Züchner, Stephan S

Publication Date: 2018-05

Variant appearance in text: MFN2: Arg468His

PubMed Link: 29473246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: MFN2: 1403G>A; R468H; rs138382758

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Assessing risk for Mendelian disorders in a Bronx population.

Molecular Genetics & Genomic Medicine

diSibio, Guy G; Upadhyay, Kinnari K; Meyer, Philip P; Oddoux, Carole C; Ostrer, Harry H

Publication Date: 2017-09

Variant appearance in text: MFN2: 1403G>A; Arg468His; rs138382758

PubMed Link: 28944235

Variant Present in the following documents:

• MGG3-5-516-s001.xlsx, sheet 1
• MGG3-5-516.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: MFN2: 1403G>A; Arg468His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genetic heterogeneity of motor neuropathies.

Neurology

Bansagi, Boglarka B; Griffin, Helen H; Whittaker, Roger G RG; Antoniadi, Thalia T; Evangelista, Teresinha T; Miller, James J; Greenslade, Mark M; Forester, Natalie N; Duff, Jennifer J; Bradshaw, Anna A; Kleinle, Stephanie S; Boczonadi, Veronika V; Steele, Hannah H; Ramesh, Venkateswaran V; Franko, Edit E; Pyle, Angela A; Lochmüller, Hanns H; Chinnery, Patrick F PF; Horvath, Rita R

Publication Date: 2017-03-28

Variant appearance in text: MFN2: 1403G>A; Arg468His

PubMed Link: 28251916

Variant Present in the following documents:

• Main text
• NEUROLOGY2016768655.pdf
• supp_WNL.0000000000003772_e-tables.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: MFN2: 1403G>A; R468H; rs138382758

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: MFN2: R468H; rs138382758

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Bmc Medical Genetics

Antoniadi, Thalia T; Buxton, Chris C; Dennis, Gemma G; Forrester, Natalie N; Smith, Debbie D; Lunt, Peter P; Burton-Jones, Sarah S

Publication Date: 2015-09-21

Variant appearance in text: MFN2: Arg468His; rs138382758

PubMed Link: 26392352

Variant Present in the following documents:

• Main text
• 12881_2015_Article_224.pdf
• 12881_2015_224_MOESM1_ESM.xlsx, sheet 1

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: rs138382758

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.

Plos One

Shen, Hui H; Li, Jian J; Zhang, Jigang J; Xu, Chao C; Jiang, Yan Y; Wu, Zikai Z; Zhao, Fuping F; Liao, Li L; Chen, Jun J; Lin, Yong Y; Tian, Qing Q; Papasian, Christopher J CJ; Deng, Hong-Wen HW

Publication Date: 2013

Variant appearance in text: MFN2: R468H

PubMed Link: 23577066

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.

Plos One

Eschenbacher, William H WH; Song, Moshi M; Chen, Yun Y; Bhandari, Poonam P; Zhao, Peter P; Jowdy, Casey C CC; Engelhard, John T JT; Dorn, Gerald W GW

Publication Date: 2012

Variant appearance in text: MARF: R468H

PubMed Link: 22957060

Variant Present in the following documents:

• Main text

View BVdb publication page

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MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Brain : A Journal Of Neurology

Sitarz, Kamil S KS; Yu-Wai-Man, Patrick P; Pyle, Angela A; Stewart, Joanna D JD; Rautenstrauss, Bernd B; Seeman, Pavel P; Reilly, Mary M MM; Horvath, Rita R; Chinnery, Patrick F PF

Publication Date: 2012-08

Variant appearance in text: MFN2: Arg468His

PubMed Link: 22492563

Variant Present in the following documents:

• Main text
• aws049.pdf

View BVdb publication page

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

Journal Of Neurology

McCorquodale, Donald S DS; Montenegro, Gladys G; Peguero, Ainsley A; Carlson, Nicole N; Speziani, Fiorella F; Price, Justin J; Taylor, Sean W SW; Melanson, Michel M; Vance, Jeffery M JM; Züchner, Stephan S

Publication Date: 2011-07

Variant appearance in text: MFN2: 1403G>A; R468H

PubMed Link: 21258814

Variant Present in the following documents:

• Main text

View BVdb publication page

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MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Bmc Medical Genetics

Braathen, Geir J GJ; Sand, Jette C JC; Lobato, Ana A; Høyer, Helle H; Russell, Michael B MB

Publication Date: 2010-03-29

Variant appearance in text: MFN2: 1403G>A; Arg468His

PubMed Link: 20350294

Variant Present in the following documents:

• Main text

View BVdb publication page

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Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Bmc Medical Genetics

Engelfried, Kathrin K; Vorgerd, Matthias M; Hagedorn, Michaela M; Haas, Gerhard G; Gilles, Jürgen J; Epplen, Jörg T JT; Meins, Moritz M

Publication Date: 2006-06-08

Variant appearance in text: MFN2: 1403G>A; R468H

PubMed Link: 16762064

Variant Present in the following documents:

• Main text
• 1471-2350-7-53.pdf

View BVdb publication page

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