Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: MVK: V377I; rs28934897

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

Pediatric Rheumatology Online Journal

Li, Yandie Y; Yu, Meiping M; Lu, Meiping M

Publication Date: 2022-10-17

Variant appearance in text: MVK: V377I

PubMed Link: 36253853

Variant Present in the following documents:

• Main text
• 12969_2022_Article_728.pdf

View BVdb publication page

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Hyperimmunoglobulin D Syndrome Presenting with Volvulus Due to Abdominal Fibro-Inflammatory Bands.

Turkish Archives Of Pediatrics

Aslan, Muzaffer Kaan MK; Cesur, Özkan Ö; Özcan, Ayşegül A; Avcı, Nihal N; Goncu, Sultan S; Ünsal Saç, Rukiye R; Sandal, Semih S; Cura Yayla, Burcu Ceylan BC; Vezir, Emine E; Tasar, Medine Aysin MA; Sağ, Erdal E

Publication Date: 2022-09-23

Variant appearance in text: MVK: V377I

PubMed Link: 36148670

Variant Present in the following documents:

• Main text
• tap-58-1-109.pdf

View BVdb publication page

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Proteomic Signatures of Monocytes in Hereditary Recurrent Fevers.

Frontiers In Immunology

Penco, Federica F; Petretto, Andrea A; Lavarello, Chiara C; Papa, Riccardo R; Bertoni, Arinna A; Omenetti, Alessia A; Gueli, Ilaria I; Finetti, Martina M; Caorsi, Roberta R; Volpi, Stefano S; Gattorno, Marco M

Publication Date: 2022

Variant appearance in text: MVK: V377I

PubMed Link: 35812440

Variant Present in the following documents:

• Main text
• fimmu-13-921253.pdf

View BVdb publication page

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Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine

Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,

Publication Date: 2022-04-08

Variant appearance in text: MVK: 1129G>A; Val377Ile

PubMed Link: 35395838

Variant Present in the following documents:

• 41525_2022_295_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Pro-Inflammatory Signature Constitutively Activated in Monogenic Autoinflammatory Diseases.

International Journal Of Molecular Sciences

Galozzi, Paola P; Negm, Ola O; Bindoli, Sara S; Tighe, Patrick P; Sfriso, Paolo P; Punzi, Leonardo L

Publication Date: 2022-02-05

Variant appearance in text: MVK: V377I

PubMed Link: 35163749

Variant Present in the following documents:

• Main text
• ijms-23-01828.pdf

View BVdb publication page

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A Pro-Inflammatory Signature Constitutively Activated in Monogenic Autoinflammatory Diseases.

International Journal Of Molecular Sciences

Galozzi, Paola P; Negm, Ola O; Bindoli, Sara S; Tighe, Patrick P; Sfriso, Paolo P; Punzi, Leonardo L

Publication Date: 2022-02-05

Variant appearance in text: MVK: V377I

PubMed Link: 35163749

Variant Present in the following documents:

• Main text
• ijms-23-01828.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: MVK: V377I; rs28934897

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: MVK: V377I

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s6_supps6.xls, sheet 1

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: MVK: 1129G>A; V377I; rs28934897

PubMed Link: 34905135

Variant Present in the following documents:

• Main text
• 43141_2021_Article_268.pdf
• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: MVK: 1129G>A; V377I; rs28934897

PubMed Link: 34905135

Variant Present in the following documents:

• Main text
• 43141_2021_Article_268.pdf
• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.

Pediatric Rheumatology Online Journal

Omoyinmi, Ebun E; Rowczenio, Dorota D; Sebire, Neil N; Brogan, Paul A PA; Eleftheriou, Despina D

Publication Date: 2021-11-22

Variant appearance in text: MVK: V377I

PubMed Link: 34809655

Variant Present in the following documents:

• Main text
• 12969_2021_Article_645.pdf

View BVdb publication page

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Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation.

Biomolecules

Rimondi, Erika E; Valencic, Erica E; Tommasini, Alberto A; Secchiero, Paola P; Melloni, Elisabetta E; Marcuzzi, Annalisa A

Publication Date: 2021-09-30

Variant appearance in text: MVK: V377I

PubMed Link: 34680069

Variant Present in the following documents:

• biomolecules-11-01438.pdf

View BVdb publication page

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Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Genes

Grossi, Alice A; Miano, Maurizio M; Lanciotti, Marina M; Fioredda, Francesca F; Guardo, Daniela D; Palmisani, Elena E; Terranova, Paola P; Santamaria, Giuseppe G; Caroli, Francesco F; Caorsi, Roberta R; Volpi, Stefano S; Gattorno, Marco M; Dufour, Carlo C; Ceccherini, Isabella I

Publication Date: 2021-08-24

Variant appearance in text: MVK: 1129G>A; V377I

PubMed Link: 34573280

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effectiveness of Canakinumab Treatment in Colchicine Resistant Familial Mediterranean Fever Cases.

Frontiers In Pediatrics

Yücel, Burcu Bozkaya BB; Aydog, Ozlem O; Nalcacioglu, Hulya H; Yılmaz, Ayşegül A

Publication Date: 2021

Variant appearance in text: MVK: V377I

PubMed Link: 34568239

Variant Present in the following documents:

• Main text
• fped-09-710501.pdf

View BVdb publication page

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Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.

Frontiers In Immunology

Politiek, Frouwkje A FA; Waterham, Hans R HR

Publication Date: 2021

Variant appearance in text: MVK: 1129G>A; V377I

PubMed Link: 34539662

Variant Present in the following documents:

• Main text
• fimmu-12-724991.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: MVK: V377I

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

Nature Communications

He, Chen C; Xu, Ke K; Zhu, Xiaoyan X; Dunphy, Paige S PS; Gudenas, Brian B; Lin, Wenwei W; Twarog, Nathaniel N; Hover, Laura D LD; Kwon, Chang-Hyuk CH; Kasper, Lawryn H LH; Zhang, Junyuan J; Li, Xiaoyu X; Dalton, James J; Jonchere, Barbara B; Mercer, Kimberly S KS; Currier, Duane G DG; Caufield, William W; Wang, Yingzhe Y; Xie, Jia J; Broniscer, Alberto A; Wetmore, Cynthia C; Upadhyaya, Santhosh A SA; Qaddoumi, Ibrahim I; Klimo, Paul P; Boop, Frederick F; Gajjar, Amar A; Zhang, Jinghui J; Orr, Brent A BA; Robinson, Giles W GW; Monje, Michelle M; Freeman Iii, Burgess B BB; Roussel, Martine F MF; Northcott, Paul A PA; Chen, Taosheng T; Rankovic, Zoran Z; Wu, Gang G; Chiang, Jason J; Tinkle, Christopher L CL; Shelat, Anang A AA; Baker, Suzanne J SJ

Publication Date: 2021-07-02

Variant appearance in text: MVK: V377I

PubMed Link: 34215733

Variant Present in the following documents:

• 41467_2021_24168_MOESM5_ESM.xlsx, sheet 7

View BVdb publication page

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Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

International Journal Of Molecular Sciences

Di Donato, Giulia G; d'Angelo, Debora Mariarita DM; Breda, Luciana L; Chiarelli, Francesco F

Publication Date: 2021-06-14

Variant appearance in text: MVK: 1129G>A; V377I

PubMed Link: 34198614

Variant Present in the following documents:

• Main text
• ijms-22-06360.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: MVK: 1129G>A; Val377Ile; rs28934897

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Frontiers In Genetics

Sharma, Parul P; Jain, Abhinav A; Scaria, Vinod V

Publication Date: 2021

Variant appearance in text: MVK: V377I; rs28934897

PubMed Link: 34054914

Variant Present in the following documents:

• Main text
• fgene-12-631340.pdf

View BVdb publication page

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Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Journal Of Clinical Medicine

Boursier, Guilaine G; Rittore, Cécile C; Milhavet, Florian F; Cuisset, Laurence L; Touitou, Isabelle I

Publication Date: 2021-04-07

Variant appearance in text: MVK: Val377Ile

PubMed Link: 33917151

Variant Present in the following documents:

• Main text

View BVdb publication page

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Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.

Frontiers In Immunology

Welzel, Tatjana T; Benseler, Susanne M SM; Kuemmerle-Deschner, Jasmin B JB

Publication Date: 2021

Variant appearance in text: MVK: V377I

PubMed Link: 33868220

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.

Frontiers In Immunology

Suri, Deepti D; Rawat, Amit A; Jindal, Ankur Kumar AK; Vignesh, Pandiarajan P; Gupta, Anju A; Pilania, Rakesh Kumar RK; Joshi, Vibhu V; Arora, Kanika K; Kumrah, Rajni R; Anjani, Gummadi G; Aggarwal, Amita A; Phadke, Shubha S; Aboobacker, Fouzia N FN; George, Biju B; Edison, Eunice Sindhuvi ES; Desai, Mukesh M; Taur, Prasad P; Gowri, Vijaya V; Pandrowala, Ambreen Abdulwahab AA; Bhattad, Sagar S; Kanakia, Swati S; Gottorno, Marco M; Ceccherini, Isabella I; Almeida de Jesus, Adriana A; Goldbach-Mansky, Raphaela R; Hershfield, Michael S MS; Singh, Surjit S

Publication Date: 2021

Variant appearance in text: MVK: 1129G>A

PubMed Link: 33815380

Variant Present in the following documents:

• Main text
• fimmu-12-630691.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: MVK: V377I

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.

Plos One

Govindaraj, Geeta Madathil GM; Jain, Abhinav A; Peethambaran, Geetha G; Bhoyar, Rahul C RC; Vellarikkal, Shamsudheen Karuthedath SK; Ganapati, Arvind A; Sandhya, Pulukool P; Edavazhippurath, Athulya A; Dhanasooraj, Dhananjayan D; Puthenpurayil, Jayakrishnan Machinary JM; Chakkiyar, Krishnan K; Mishra, Anushree A; Batra, Arushi A; Punnen, Anu A; Kumar, Sathish S; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2020

Variant appearance in text: MVK: 1129G>A; V377I; rs28934897

PubMed Link: 32822427

Variant Present in the following documents:

• Main text

View BVdb publication page

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Periodic fever syndromes and the autoinflammatory diseases (AIDs).

Journal Of Translational Autoimmunity

Marino, Achille A; Tirelli, Francesca F; Giani, Teresa T; Cimaz, Rolando R

Publication Date: 2020

Variant appearance in text: MVK: V377I

PubMed Link: 32743516

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Scientific Reports

Cayrefourcq, Laure L; Vincent, Marie-Claire MC; Pierredon, Sandra S; Moutou, Céline C; Imbert-Bouteille, Marion M; Haquet, Emmanuelle E; Puechberty, Jacques J; Willems, Marjolaine M; Liautard-Haag, Cathy C; Molinari, Nicolas N; Zordan, Cécile C; Dorian, Virginie V; Rooryck-Thambo, Caroline C; Goizet, Cyril C; Chaussenot, Annabelle A; Rouzier, Cécile C; Boureau-Wirth, Amandine A; Monteil, Laetitia L; Calvas, Patrick P; Miry, Claire C; Favre, Romain R; Petrov, Yuliya Y; Khau Van Kien, Philippe P; Le Boette, Elsa E; Fradin, Mélanie M; Alix-Panabières, Catherine C; Guissart, Claire C

Publication Date: 2020-06-17

Variant appearance in text: MVK: 1129G>A; Val377Ile

PubMed Link: 32555262

Variant Present in the following documents:

• 41598_2020_66923_MOESM1_ESM.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: MVK: 1129G>A; rs28934897

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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Autoinflammatory Diseases in Childhood

Balkan Medical Journal

Yıldız, Mehmet M; Haşlak, Fatih F; Adrovic, Amra A; Barut, Kenan K; Kasapçopur, Özgür Ö

Publication Date: 2020-08-11

Variant appearance in text: MVK: V377I

PubMed Link: 32338845

Variant Present in the following documents:

• Main text

View BVdb publication page

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Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

Annals Of The Rheumatic Diseases

Van Gorp, Hanne H; Huang, Linyan L; Saavedra, Pedro P; Vuylsteke, Marnik M; Asaoka, Tomoko T; Prencipe, Giusi G; Insalaco, Antonella A; Ogunjimi, Benson B; Jeyaratnam, Jerold J; Cataldo, Ilaria I; Jacques, Peggy P; Vermaelen, Karim K; Dullaers, Melissa M; Joos, Rik R; Sabato, Vito V; Stella, Alessandro A; Frenkel, Joost J; De Benedetti, Fabrizio F; Dehoorne, Joke J; Haerynck, Filomeen F; Calamita, Giuseppe G; Portincasa, Piero P; Lamkanfi, Mohamed M

Publication Date: 2020-07

Variant appearance in text: MVK: V377I

PubMed Link: 32312770

Variant Present in the following documents:

• annrheumdis-2019-216701supp001.pdf

View BVdb publication page

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation

Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L

Publication Date: 2019

Variant appearance in text: MVK: 1129G>A; V377I; rs28934897

PubMed Link: 32082075

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Cold Spring Harbor Molecular Case Studies

Scott, Hilary A HA; Place, Emily M EM; Ferenchak, Kevin K; Zampaglione, Erin E; Wagner, Naomi E NE; Chao, Katherine R KR; DiTroia, Stephanie P SP; Navarro-Gomez, Daniel D; Mukai, Shizuo S; Huckfeldt, Rachel M RM; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-02

Variant appearance in text: MVK: 1129G>A

PubMed Link: 32014858

Variant Present in the following documents:

• supp_mcs.a004754_Supplemental_Material.pdf

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: MVK: 1129G>A

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

European Journal Of Human Genetics : Ejhg

Jiman, Omamah A OA; Taylor, Rachel L RL; Lenassi, Eva E; Smith, Jill Clayton JC; Douzgou, Sofia S; Ellingford, Jamie M JM; Barton, Stephanie S; Hardcastle, Claire C; Fletcher, Tracy T; Campbell, Christopher C; Ashworth, Jane J; Biswas, Susmito S; Ramsden, Simon C SC; , ; Manson, Forbes D FD; Black, Graeme C GC

Publication Date: 2020-05

Variant appearance in text: MVK: 1129G>A; Val377Ile

PubMed Link: 31836858

Variant Present in the following documents:

• Main text

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Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.

Frontiers In Immunology

Figueras-Nart, Ignasi I; Mascaró, José M JM; Solanich, Xavier X; Hernández-Rodríguez, José J

Publication Date: 2019

Variant appearance in text: MVK: V377I

PubMed Link: 31736939

Variant Present in the following documents:

• Main text

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Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open

McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D

Publication Date: 2019-10-02

Variant appearance in text: MVK: 1129G>A

PubMed Link: 31664448

Variant Present in the following documents:

• jamanetwopen-2-e1914274-s001.pdf

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Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.

Journal Of Clinical Medicine

Boursier, Guilaine G; Rittore, Cécile C; Georgin-Lavialle, Sophie S; Belot, Alexandre A; Galeotti, Caroline C; Hachulla, Eric E; Hentgen, Véronique V; Rossi-Semerano, Linda L; Sarrabay, Guillaume G; Touitou, Isabelle I

Publication Date: 2019-10-18

Variant appearance in text: MVK: Val377Ile

PubMed Link: 31635385

Variant Present in the following documents:

• Main text

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Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

Frontiers In Endocrinology

Bindoli, Sara S; Franceschet, Giulio G; Galozzi, Paola P; Zaninotto, Martina M; Camozzi, Valentina V; Sfriso, Paolo P

Publication Date: 2019

Variant appearance in text: MVK: V377I; rs28934897

PubMed Link: 31620089

Variant Present in the following documents:

• Main text

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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: MVK: 1129G>A; rs28934897

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.

Frontiers In Immunology

Munoz, Marcia A MA; Jurczyluk, Julie J; Simon, Anna A; Hissaria, Pravin P; Arts, Rob J W RJW; Coman, David D; Boros, Christina C; Mehr, Sam S; Rogers, Michael J MJ

Publication Date: 2019

Variant appearance in text: MVK: V377I

PubMed Link: 31474985

Variant Present in the following documents:

• fimmu-10-01900.pdf

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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: MVK: 1129G>A; Val377Ile

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.

Scientific Reports

Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Olivas-Martínez, Israel I; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Juliá, María Rosa MR; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez de la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF

Publication Date: 2019-02-26

Variant appearance in text: MVK: Val377Ile

PubMed Link: 30808881

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39113.pdf

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: MVK: V377I

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 1

View BVdb publication page

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Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.

Case Reports In Pediatrics

Rafiq, Nadia K NK; Lachmann, Helen H; Joensen, Frodi F; Herlin, Troels T; Brogan, Paul A PA

Publication Date: 2018

Variant appearance in text: MVK: V377I

PubMed Link: 30225156

Variant Present in the following documents:

• Main text

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: MVK: V377I

PubMed Link: 30030262

Variant Present in the following documents:

• Main text
• annrheumdis-2018-213524.pdf

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Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center.

World Journal Of Clinical Pediatrics

De Pauli, Silvia S; Lega, Sara S; Pastore, Serena S; Grasso, Domenico Leonardo DL; Bianco, Anna Monica Rosaria AMR; Severini, Giovanni Maria GM; Tommasini, Alberto A; Taddio, Andrea A

Publication Date: 2018-02-08

Variant appearance in text: MVK: V377I

PubMed Link: 29456932

Variant Present in the following documents:

• Main text
• WJCP-7-49.pdf

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Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.

Annals Of Allergy, Asthma & Immunology : Official Publication Of The American College Of Allergy, Asthma, & Immunology

Dunn, Kara K; Pasternak, Brad B; Kelsen, Judith R JR; Sullivan, Kathleen E KE; Dawany, Noor N; Wright, Benjamin L BL

Publication Date: 2018-02

Variant appearance in text: MVK: 1129G>A; Val377Ile

PubMed Link: 29290516

Variant Present in the following documents:

• Main text

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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Orphanet Journal Of Rare Diseases

Papa, Riccardo R; Doglio, Matteo M; Lachmann, Helen J HJ; Ozen, Seza S; Frenkel, Joost J; Simon, Anna A; Neven, Bénédicte B; Kuemmerle-Deschner, Jasmin J; Ozgodan, Huri H; Caorsi, Roberta R; Federici, Silvia S; Finetti, Martina M; Trachana, Maria M; Brunner, Jurgen J; Bezrodnik, Liliana L; Pinedo Gago, Mari Carmen MC; Maggio, Maria Cristina MC; Tsitsami, Elena E; Al Suwairi, Wafaa W; Espada, Graciela G; Shcherbina, Anna A; Aksu, Guzide G; Ruperto, Nicolino N; Martini, Alberto A; Ceccherini, Isabella I; Gattorno, Marco M; ,

Publication Date: 2017-10-18

Variant appearance in text: MVK: V377I

PubMed Link: 29047407

Variant Present in the following documents:

• Main text
• 13023_2017_Article_720.pdf

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Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.

Scientific Reports

Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Ortiz-Fernández, Lourdes L; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Rosa Juliá, María M; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez De la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF

Publication Date: 2017-08-16

Variant appearance in text: MVK: Val377Ile

PubMed Link: 28814775

Variant Present in the following documents:

• Main text

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Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene.

Frontiers In Pediatrics

Laccetta, Gianluigi G; Tutera, Maria M; Miccoli, Mario M; Consolini, Rita R

Publication Date: 2017

Variant appearance in text: MVK: V377I

PubMed Link: 28638818

Variant Present in the following documents:

• Main text

View BVdb publication page

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