Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: DDX58: R71H

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Plos One

Azzarà, Alessia A; Cassano, Ilaria I; Paccagnella, Elisa E; Tirindelli, Maria Cristina MC; Nobile, Carolina C; Schittone, Valentina V; Lintas, Carla C; Sacco, Roberto R; Gurrieri, Fiorella F

Publication Date: 2022

Variant appearance in text: DDX58: Arg71His; rs72710678

PubMed Link: 36228008

Variant Present in the following documents:

• Main text
• pone.0275988.pdf

View BVdb publication page

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Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Rmd Open

Atschekzei, Faranaz F; Dubrowinskaja, Natalia N; Anim, Manfred M; Thiele, Thea T; Witte, Torsten T; Sogkas, Georgios G

Publication Date: 2022-09

Variant appearance in text: DDX58: 212G>A; Arg71His; rs72710678

PubMed Link: 36113963

Variant Present in the following documents:

• Main text
• rmdopen-2022-002561.pdf

View BVdb publication page

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Genetic influences on viral-induced cytokine responses in the lung.

Mucosal Immunology

Forbester, Jessica L JL; Humphreys, Ian R IR

Publication Date: 2021-01

Variant appearance in text: DDX58: Arg71His; rs72710678

PubMed Link: 33184476

Variant Present in the following documents:

• Main text
• 41385_2020_Article_355.pdf

View BVdb publication page

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Host Single Nucleotide Polymorphisms Modulating Influenza A Virus Disease in Humans.

Pathogens (Basel, Switzerland)

Nogales, Aitor A; L DeDiego, Marta M

Publication Date: 2019-09-30

Variant appearance in text: RIG-I: R71H; rs72710678

PubMed Link: 31574965

Variant Present in the following documents:

• Main text
• pathogens-08-00168.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: DDX58: R71H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Scientific Reports

Vidmar, Lovro L; Maver, Ales A; Drulović, Jelena J; Sepčić, Juraj J; Novaković, Ivana I; Ristič, Smiljana S; Šega, Saša S; Peterlin, Borut B

Publication Date: 2019-06-24

Variant appearance in text: DDX58: 212G>A; Arg71His; rs72710678

PubMed Link: 31235738

Variant Present in the following documents:

• 41598_2019_45598_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: DDX58: 212G>A; R71H; rs72710678

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Defective RNA sensing by RIG-I in severe influenza virus infection.

Clinical And Experimental Immunology

Jørgensen, S E SE; Christiansen, M M; Ryø, L B LB; Gad, H H HH; Gjedsted, J J; Staeheli, P P; Mikkelsen, J G JG; Storgaard, M M; Hartmann, R R; Mogensen, T H TH

Publication Date: 2018-06

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 29453856

Variant Present in the following documents:

• Main text

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Human Molecular Genetics

Dand, Nick N; Mucha, Sören S; Tsoi, Lam C LC; Mahil, Satveer K SK; Stuart, Philip E PE; Arnold, Andreas A; Baurecht, Hansjörg H; Burden, A David AD; Callis Duffin, Kristina K; Chandran, Vinod V; Curtis, Charles J CJ; Das, Sayantan S; Ellinghaus, David D; Ellinghaus, Eva E; Enerback, Charlotta C; Esko, Tõnu T; Gladman, Dafna D DD; Griffiths, Christopher E M CEM; Gudjonsson, Johann E JE; Hoffman, Per P; Homuth, Georg G; Hüffmeier, Ulrike U; Krueger, Gerald G GG; Laudes, Matthias M; Lee, Sang Hyuck SH; Lieb, Wolfgang W; Lim, Henry W HW; Löhr, Sabine S; Mrowietz, Ulrich U; Müller-Nurayid, Martina M; Nöthen, Markus M; Peters, Annette A; Rahman, Proton P; Reis, André A; Reynolds, Nick J NJ; Rodriguez, Elke E; Schmidt, Carsten O CO; Spain, Sarah L SL; Strauch, Konstantin K; Tejasvi, Trilokraj T; Voorhees, John J JJ; Warren, Richard B RB; Weichenthal, Michael M; Weidinger, Stephan S; Zawistowski, Matthew M; Nair, Rajan P RP; Capon, Francesca F; Smith, Catherine H CH; Trembath, Richard C RC; Abecasis, Goncalo R GR; Elder, James T JT; Franke, Andre A; Simpson, Michael A MA; Barker, Jonathan N JN

Publication Date: 2017-11-01

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 28973304

Variant Present in the following documents:

• dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx, sheet 4

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: DDX58: 212G>A; Arg71His

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: DDX58: R71H; rs72710678

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Bmc Neurology

Luty, Agnes A AA; Kwok, John B J JB; Thompson, Elizabeth M EM; Blumbergs, Peter P; Brooks, William S WS; Loy, Clement T CT; Dobson-Stone, Carol C; Panegyres, Peter K PK; Hecker, Jane J; Nicholson, Garth A GA; Halliday, Glenda M GM; Schofield, Peter R PR

Publication Date: 2008-08-29

Variant appearance in text: DDX58: Arg71His

PubMed Link: 18755042

Variant Present in the following documents:

• Main text
• 1471-2377-8-32.pdf

View BVdb publication page

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