Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MVK: 59A>C; His20Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Isolated neurological presentations of mevalonate kinase deficiency.

Jimd Reports

Hoytema van Konijnenburg, Eva M M EMM; Oussoren, Esmeralda E; Frenkel, Joost J; van Hasselt, Peter M PM

Publication Date: 2023-01

Variant appearance in text: MVK: 59A>C; H20P

PubMed Link: 36636591

Variant Present in the following documents:

• Main text
• JMD2-64-53.pdf

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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: H20P

PubMed Link: 34539662

Variant Present in the following documents:

• Main text
• fimmu-12-724991.pdf

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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: N/A

PubMed Link: 34078906

Variant Present in the following documents:

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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: His20Pro

PubMed Link: 33917151

Variant Present in the following documents:

• Main text

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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: 59A>C; His20Pro; rs104895295

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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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: H20P

PubMed Link: 31474985

Variant Present in the following documents:

• Main text
• fimmu-10-01900.pdf

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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: H20P

PubMed Link: 29047407

Variant Present in the following documents:

• Main text
• 13023_2017_Article_720.pdf

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: MVK: His20Pro

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

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Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever.

Bmj Case Reports

Schlabe, Stefan S; Schwarze-Zander, Carolynne C; Lohse, Peter P; Rockstroh, Jürgen Kurt JK

Publication Date: 2016-11-29

Variant appearance in text: MVK: H20P

PubMed Link: 27899390

Variant Present in the following documents:

• Main text

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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: MVK: H20P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.

International Journal Of Rheumatology

Caso, Francesco F; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Costa, Luisa L; Atteno, Mariangela M; Compagnone, Adele A; Caso, Paolo P; Frediani, Bruno B; Galeazzi, Mauro M; Punzi, Leonardo L; Cantarini, Luca L

Publication Date: 2013

Variant appearance in text: MVK: H20P

PubMed Link: 24282415

Variant Present in the following documents:

• Main text
• IJR2013-513782.pdf

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A Case of Hyper IgD and Periodic Fever Syndrome in Japan.

Clinical Medicine. Case Reports

Kawashima, Hisashi H; Hoshi, Akiyoshi A; Ioi, Hiroaki H; Ishii, Chiako C; Sato, Satoshi S; Kashiwagi, Yasuyo Y; Takekuma, Kouji K; Hoshika, Akinori A

Publication Date: 2008

Variant appearance in text: MVK: H20P

PubMed Link: 24179342

Variant Present in the following documents:

• ccrep-1-2008-033.pdf

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Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers.

Molecular Genetics And Metabolism

Simon, Anna A; Drenth, Joost P H JP; Matern, Dietrich D; Goetzman, Eric S ES; Hager, Elizabeth J EJ; Gibson, K Michael KM

Publication Date: 2013-03

Variant appearance in text: MVK: H20P

PubMed Link: 23375471

Variant Present in the following documents:

• Main text

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Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Annals Of The Rheumatic Diseases

Shinar, Y Y; Obici, L L; Aksentijevich, I I; Bennetts, B B; Austrup, F F; Ceccherini, I I; Costa, J M JM; De Leener, A A; Gattorno, M M; Kania, U U; Kone-Paut, I I; Lezer, S S; Livneh, A A; Moix, I I; Nishikomori, R R; Ozen, S S; Phylactou, L L; Risom, L L; Rowczenio, D D; Sarkisian, T T; van Gijn, M E ME; Witsch-Baumgartner, M M; Morris, M M; Hoffman, H M HM; Touitou, I I; ,

Publication Date: 2012-10

Variant appearance in text: MVK: H20P

PubMed Link: 22661645

Variant Present in the following documents:

• Main text
• annrheumdis-2011-201271.pdf

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