Publications:

---

NOD2 Versus MEFV: Differential Diagnosis of Yao Syndrome and Familial Mediterranean Fever.

Rheumatology And Immunology Research

Yao, Qingping Q; Shen, Min M; Gorevic, Peter P

Publication Date: 2021-12

Variant appearance in text: MEFV: R653H

PubMed Link: 36467985

Variant Present in the following documents:

• Main text
• rir-02-233.pdf

View BVdb publication page

---

Prediction of More Severe MEFV Gene Mutations in Childhood.

Turkish Archives Of Pediatrics

Güneş-Yılmaz, Seviye S; Kasap-Demir, Belde B; Soyaltın, Eren E; Erfidan, Gökçen G; Özdemir-Şimşek, Özgür Ö; Arslansoyu-Çamlar, Seçil S; Alaygut, Demet D; Mutlubaş, Fatma F

Publication Date: 2021-11

Variant appearance in text: MEFV: R653H

PubMed Link: 35110061

Variant Present in the following documents:

• tap-56-6-610.pdf

View BVdb publication page

---

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: MEFV: 1958G>A; Arg653His; rs104895085

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: MEFV: R653H

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: MEFV: 1958G>A; rs104895085

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

---

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: MEFV: 1958G>A; Arg653His

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: MEFV: 1958G>A; rs104895085

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

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: MEFV: 1958G>A; Arg653His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Prevalence of Mediterranean FeVer Gene Mutations in Turkish Cypriot Population.

Archives Of Rheumatology

Galip, Nilüfer N; Dalkan, Ceyhun C; Terali, Ayşe A; Çobanoğlu, Nazan N; Ülgenalp, Ayfer A; Bahçeciler, Nerin N; Kavukçu, Salih S

Publication Date: 2017-03

Variant appearance in text: MEFV: R653H

PubMed Link: 29901013

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: MEFV: 1958G>A; Arg653His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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: MEFV: Arg653His

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

---

Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Molecular Genetics & Genomic Medicine

Fujikura, Kohei K

Publication Date: 2015-07

Variant appearance in text: FMF: R653H

PubMed Link: 26247045

Variant Present in the following documents:

• Main text
• mgg30003-0272.pdf

View BVdb publication page

---

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: MEFV: R653H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Crystal structure of TRIM20 C-terminal coiled-coil/B30.2 fragment: implications for the recognition of higher order oligomers.

Scientific Reports

Weinert, Christopher C; Morger, Damien D; Djekic, Aleksandra A; Grütter, Markus G MG; Mittl, Peer R E PR

Publication Date: 2015-06-04

Variant appearance in text: FMF: R653H

PubMed Link: 26043233

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.

Arthritis Research & Therapy

Kishida, Dai D; Nakamura, Akinori A; Yazaki, Masahide M; Tsuchiya-Suzuki, Ayako A; Matsuda, Masayuki M; Ikeda, Shu-ichi S

Publication Date: 2014-09-27

Variant appearance in text: MEFV: R653H

PubMed Link: 25261100

Variant Present in the following documents:

• 13075_2014_Article_439.pdf

View BVdb publication page

---

A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

Bmc Medical Genetics

Dogan, Hasan H; Akdemir, Fatih F; Tasdemir, Sener S; Atis, Omer O; Diyarbakir, Eda E; Yildirim, Rahsan R; Emet, Mucahit M; Ikbal, Mevlit M

Publication Date: 2014-07-01

Variant appearance in text: MEFV: R653H

PubMed Link: 24980720

Variant Present in the following documents:

• 1471-2350-15-74.pdf

View BVdb publication page

---

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: MEFV: 1958G>A; R653H; rs104895085

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

---

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

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

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: MEFV: R653H

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

View BVdb publication page

---

A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.

Annals Of Saudi Medicine

Dundar, Munis M; Kiraz, Aslihan A; Emirogullari, Elif Funda EF; Saatci, Ccedil Etin CE; Taheri, Serpil S; Baskol, Mevlut M; Polat, Seher S; Ozkul, Yusuf Y

Publication Date: 2012

Variant appearance in text: FMF: R653H

PubMed Link: 22705602

Variant Present in the following documents:

• asm-4-343.pdf

View BVdb publication page

---

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

Arthritis And Rheumatism

Booty, Matthew G MG; Chae, Jae Jin JJ; Masters, Seth L SL; Remmers, Elaine F EF; Barham, Beverly B; Le, Julie M JM; Barron, Karyl S KS; Holland, Steve M SM; Kastner, Daniel L DL; Aksentijevich, Ivona I

Publication Date: 2009-06

Variant appearance in text: FMF: R653H

PubMed Link: 19479870

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Külm, Maigi M; Gardner, Phyllis I PI; Pergament, Eugene P EP; Fiddler, Morris B MB

Publication Date: 2007-04

Variant appearance in text: MEFV: R653H

PubMed Link: 17384215

Variant Present in the following documents:

• Main text

View BVdb publication page

---