Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: NLRP3: 1705G>A; Gly569Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_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: NLRP3: G569R

PubMed Link: 34905135

Variant Present in the following documents:

• 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: NLRP3: G569R

PubMed Link: 34905135

Variant Present in the following documents:

• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: NLRP3: 1705G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: NLRP3: 1705G>A; E569K

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Lessons From the Misdiagnosis of Cryopyrin-Associated Periodic Syndrome as an Infection: Importance of an Early and Precise Diagnosis.

Journal Of Clinical Rheumatology : Practical Reports On Rheumatic & Musculoskeletal Diseases

Li, Tao T; Wu, Jing J; Ruan, Qiaoling Q; Zhang, Wenhong W; Zhang, Wenhong W; Liu, Ping P; Pei, Ning N; Xi, Xiuhong X; Lu, Shuihua S; Jiang, Ning N

Publication Date: 2019-09-12

Variant appearance in text: NLRP3: G569R

PubMed Link: 31524846

Variant Present in the following documents:

• Main text
• rhu-27-s485.pdf

View BVdb publication page

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Lessons From the Misdiagnosis of Cryopyrin-Associated Periodic Syndrome as an Infection: Importance of an Early and Precise Diagnosis.

Journal Of Clinical Rheumatology : Practical Reports On Rheumatic & Musculoskeletal Diseases

Li, Tao T; Wu, Jing J; Ruan, Qiaoling Q; Zhang, Wenhong W; Zhang, Wenhong W; Liu, Ping P; Pei, Ning N; Xi, Xiuhong X; Lu, Shuihua S; Jiang, Ning N

Publication Date: 2021-12-01

Variant appearance in text: NLRP3: G569R

PubMed Link: 31524846

Variant Present in the following documents:

• Main text
• rhu-27-s485.pdf

View BVdb publication page

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The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea.

Allergy, Asthma & Immunology Research

Han, Jong Hee JH; Je, Yeon Jin YJ; Yoon, Hyun Je HJ; Ahn, Jong Gyun JG; Lee, Jin Sung JS; Park, Jung Won JW; Park, Hye Jung HJ

Publication Date: 2019-07

Variant appearance in text: NLRP3: 1705G>A

PubMed Link: 31172726

Variant Present in the following documents:

• aair-11-583.pdf

View BVdb publication page

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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: NALP3: G569R

PubMed Link: 29047407

Variant Present in the following documents:

• Main text
• 13023_2017_Article_720.pdf

View BVdb publication page

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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: NLRP3: Gly569Arg

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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What do we know about the inflammasome in humans?

Brain Pathology (Zurich, Switzerland)

Amin, Jay J; Boche, Delphine D; Rakic, Sonja S

Publication Date: 2017-03

Variant appearance in text: MWS: Gly569Arg

PubMed Link: 27997042

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NLRP3: 1705G>A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: NLRP3: 1705G>A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Identification of Interleukin-1β-Producing Monocytes That Are Susceptible to Pyronecrotic Cell Death in Patients With Neonatal-Onset Multisystem Inflammatory Disease.

Arthritis & Rheumatology (Hoboken, N.J.)

Edwan, Jehad H JH; Goldbach-Mansky, Raphaela R; Colbert, Robert A RA

Publication Date: 2015-12

Variant appearance in text: NLRP3: G569R

PubMed Link: 26245468

Variant Present in the following documents:

• Main text

View BVdb publication page

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An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

Nature Genetics

Canna, Scott W SW; de Jesus, Adriana A AA; Gouni, Sushanth S; Brooks, Stephen R SR; Marrero, Bernadette B; Liu, Yin Y; DiMattia, Michael A MA; Zaal, Kristien J M KJ; Sanchez, Gina A Montealegre GA; Kim, Hanna H; Chapelle, Dawn D; Plass, Nicole N; Huang, Yan Y; Villarino, Alejandro V AV; Biancotto, Angelique A; Fleisher, Thomas A TA; Duncan, Joseph A JA; O'Shea, John J JJ; Benseler, Susanne S; Grom, Alexei A; Deng, Zuoming Z; Laxer, Ronald M RM; Goldbach-Mansky, Raphaela R

Publication Date: 2014-10

Variant appearance in text: NLRP3: G569R

PubMed Link: 25217959

Variant Present in the following documents:

• Main text
• nihms620985.pdf

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: NLRP3: 1705G>A

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS).

Clinical And Experimental Immunology

Haverkamp, M H MH; van de Vosse, E E; Goldbach-Mansky, R R; Holland, S M SM

Publication Date: 2014-09

Variant appearance in text: MWS: G569R

PubMed Link: 24773462

Variant Present in the following documents:

• Main text

View BVdb publication page

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Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS).

Arthritis Research & Therapy

Kuemmerle-Deschner, Jasmin B JB; Ramos, Eduardo E; Blank, Norbert N; Roesler, Joachim J; Felix, Sandra D SD; Jung, Thomas T; Stricker, Kirstin K; Chakraborty, Abhijit A; Tannenbaum, Stacey S; Wright, Andrew M AM; Rordorf, Christiane C

Publication Date: 2011-02-28

Variant appearance in text: MWS: G569R

PubMed Link: 21356079

Variant Present in the following documents:

• Main text
• ar3266.pdf

View BVdb publication page

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The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Cellular & Molecular Immunology

Conforti-Andreoni, Cristina C; Ricciardi-Castagnoli, Paola P; Mortellaro, Alessandra A

Publication Date: 2011-03

Variant appearance in text: NLRP3: G569R

PubMed Link: 21258359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.

Journal Of Immunology (Baltimore, Md. : 1950)

Jha, Sushmita S; Ting, Jenny P-Y JP

Publication Date: 2009-12-15

Variant appearance in text: MWS: G569R

PubMed Link: 20007570

Variant Present in the following documents:

• Main text

View BVdb publication page

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NLR proteins: integral members of innate immunity and mediators of inflammatory diseases.

Journal Of Leukocyte Biology

Wilmanski, Jeanette M JM; Petnicki-Ocwieja, Tanja T; Kobayashi, Koichi S KS

Publication Date: 2008-01

Variant appearance in text: NALP3: G569R

PubMed Link: 17875812

Variant Present in the following documents:

• Main text

View BVdb publication page

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The anesthetic management of children with neonatal-onset multi-system inflammatory disease.

Anesthesia And Analgesia

Lauro, Christine F CF; Goldbach-Mansky, Raphaela R; Schmidt, Margaret M; Quezado, Zenaide M N ZM

Publication Date: 2007-08

Variant appearance in text: CIAS1: G569R

PubMed Link: 17646489

Variant Present in the following documents:

• Main text

View BVdb publication page

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The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Arthritis And Rheumatism

Aksentijevich, Ivona I; Putnam, Christopher D CD; Remmers, Elaine F EF; Mueller, James L JL; Le, Julie J; Kolodner, Richard D RD; Moak, Zachary Z; Chuang, Michael M; Austin, Frances F; Goldbach-Mansky, Raphaela R; Hoffman, Hal M HM; Kastner, Daniel L DL

Publication Date: 2007-04

Variant appearance in text: CIAS1: G569R

PubMed Link: 17393462

Variant Present in the following documents:

• Main text

View BVdb publication page

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De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

Arthritis And Rheumatism

Aksentijevich, Ivona I; Nowak, Miroslawa M; Mallah, Mustapha M; Chae, Jae Jin JJ; Watford, Wendy T WT; Hofmann, Sigrun R SR; Stein, Leonard L; Russo, Ricardo R; Goldsmith, Donald D; Dent, Peter P; Rosenberg, Helene F HF; Austin, Frances F; Remmers, Elaine F EF; Balow, James E JE; Rosenzweig, Sergio S; Komarow, Hirsh H; Shoham, Nitza G NG; Wood, Geryl G; Jones, Janet J; Mangra, Nadira N; Carrero, Hector H; Adams, Barbara S BS; Moore, Terry L TL; Schikler, Kenneth K; Hoffman, Hal H; Lovell, Daniel J DJ; Lipnick, Robert R; Barron, Karyl K; O'Shea, John J JJ; Kastner, Daniel L DL; Goldbach-Mansky, Raphaela R

Publication Date: 2002-12

Variant appearance in text: CIAS1: G569R

PubMed Link: 12483741

Variant Present in the following documents:

• Main text

View BVdb publication page

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New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

American Journal Of Human Genetics

Dodé, Catherine C; Le Dû, Nathalie N; Cuisset, Laurence L; Letourneur, Frank F; Berthelot, Jean-Marie JM; Vaudour, Gérard G; Meyrier, Alain A; Watts, Richard A RA; Scott, David G I DG; Nicholls, Anne A; Granel, Brigitte B; Frances, Camille C; Garcier, François F; Edery, Patrick P; Boulinguez, Serge S; Domergues, Jean-Paul JP; Delpech, Marc M; Grateau, Gilles G

Publication Date: 2002-06

Variant appearance in text: MWS: G569R

PubMed Link: 11992256

Variant Present in the following documents:

• Main text

View BVdb publication page

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