Publications:

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The landscape of tolerated genetic variation in humans and primates.

Biorxiv : The Preprint Server For Biology

Gao, Hong H; Hamp, Tobias T; Ede, Jeffrey J; Schraiber, Joshua G JG; McRae, Jeremy J; Singer-Berk, Moriel M; Yang, Yanshen Y; Dietrich, Anastasia A; Fiziev, Petko P; Kuderna, Lukas L; Sundaram, Laksshman L; Wu, Yibing Y; Adhikari, Aashish A; Field, Yair Y; Chen, Chen C; Batzoglou, Serafim S; Aguet, Francois F; Lemire, Gabrielle G; Reimers, Rebecca R; Balick, Daniel D; Janiak, Mareike C MC; Kuhlwilm, Martin M; Orkin, Joseph D JD; Manu, Shivakumara S; Valenzuela, Alejandro A; Bergman, Juraj J; Rouselle, Marjolaine M; Silva, Felipe Ennes FE; Agueda, Lidia L; Blanc, Julie J; Gut, Marta M; de Vries, Dorien D; Goodhead, Ian I; Harris, R Alan RA; Raveendran, Muthuswamy M; Jensen, Axel A; Chuma, Idriss S IS; Horvath, Julie J; Hvilsom, Christina C; Juan, David D; Frandsen, Peter P; de Melo, Fabiano R FR; Bertuol, Fabricio F; Byrne, Hazel H; Sampaio, Iracilda I; Farias, Izeni I; Valsecchi do Amaral, João J; Messias, Mariluce M; da Silva, Maria N F MNF; Trivedi, Mihir M; Rossi, Rogerio R; Hrbek, Tomas T; Andriaholinirina, Nicole N; Rabarivola, Clément J CJ; Zaramody, Alphonse A; Jolly, Clifford J CJ; Phillips-Conroy, Jane J; Wilkerson, Gregory G; Abee, Christian C; Simmons, Joe H JH; Fernandez-Duque, Eduardo E; Kanthaswamy, Ee E; Shiferaw, Fekadu F; Wu, Dongdong D; Zhou, Long L; Shao, Yong Y; Zhang, Guojie G; Keyyu, Julius D JD; Knauf, Sascha S; Le, Minh D MD; Lizano, Esther E; Merker, Stefan S; Navarro, Arcadi A; Batallion, Thomas T; Nadler, Tilo T; Khor, Chiea Chuen CC; Lee, Jessica J; Tan, Patrick P; Lim, Weng Khong WK; Kitchener, Andrew C AC; Zinner, Dietmar D; Gut, Ivo I; Melin, Amanda A; Guschanski, Katerina K; Schierup, Mikkel Heide MH; Beck, Robin M D RMD; Umapathy, Govindhaswamy G; Roos, Christian C; Boubli, Jean P JP; Lek, Monkol M; Sunyaev, Shamil S; O'Donnell, Anne A; Rehm, Heidi H; Xu, Jinbo J; Rogers, Jeffrey J; Marques-Bonet, Tomas T; Farh, Kyle Kai-How KK

Publication Date: 2023-05-02

Variant appearance in text: TNFRSF1A: 123T>G; Asp41Glu

PubMed Link: 37205491

Variant Present in the following documents:

• media-2.xlsx, sheet 1

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: TNFRSF1A: D41E; rs104895271

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.

Mediators Of Inflammation

Gaggiano, Carla C; Vitale, Antonio A; Obici, Laura L; Merlini, Giampaolo G; Soriano, Alessandra A; Viapiana, Ombretta O; Cattalini, Marco M; Maggio, Maria Cristina MC; Lopalco, Giuseppe G; Montin, Davide D; Jaber, Masen Abdel MA; Dagna, Lorenzo L; Manna, Raffaele R; Insalaco, Antonella A; Piga, Matteo M; La Torre, Francesco F; Berlengiero, Virginia V; Gelardi, Viviana V; Ciarcia, Luisa L; Emmi, Giacomo G; Ruscitti, Piero P; Caso, Francesco F; Cimaz, Rolando R; Hernández-Rodríguez, José J; Parronchi, Paola P; Sicignano, Ludovico Luca LL; Verrecchia, Elena E; Iannone, Florenzo F; Sota, Jurgen J; Grosso, Salvatore S; Salvarani, Carlo C; Frediani, Bruno B; Giacomelli, Roberto R; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Rigante, Donato D; Cantarini, Luca L

Publication Date: 2020

Variant appearance in text: TNFRSF1A: 123T>G; Asp41Glu

PubMed Link: 32831641

Variant Present in the following documents:

• Main text
• MI2020-8562485.pdf

View BVdb publication page

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Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants.

Journal Of Neuroinflammation

Mulazzani, Elisabeth E; Wagner, Danny D; Havla, Joachim J; Schlüter, Miriam M; Meinl, Ingrid I; Gerdes, Lisa-Ann LA; Kümpfel, Tania T

Publication Date: 2020-06-20

Variant appearance in text: TNFR1: Asp41Glu

PubMed Link: 32563262

Variant Present in the following documents:

• 12974_2020_Article_1867.pdf

View BVdb publication page

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Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

International Journal Of Molecular Sciences

Cudrici, Cornelia C; Deuitch, Natalie N; Aksentijevich, Ivona I

Publication Date: 2020-05-05

Variant appearance in text: TNFR1: D41E

PubMed Link: 32380704

Variant Present in the following documents:

• Main text
• ijms-21-03263.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: TNFRSF1A: 123T>G; rs104895271

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

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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: TNFRSF1A: 123T>G; Asp41Glu; rs104895271

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TNFRSF1A: D41E

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Role of genetics in pediatric rheumatology.

Turk Pediatri Arsivi

Turanlı, Eda Tahir ET; Everest, Elif E; Balamir, Ayşe A; Aydın, Aslı Kireçtepe AK; Kasapçopur, Özgür Ö

Publication Date: 2017-09

Variant appearance in text: TNFRSF1A: 123T>G; rs104895271

PubMed Link: 29062244

Variant Present in the following documents:

• Main text

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: TNFRSF1A: Asp41Glu

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: TNFRSF1A: 123T>G; D41E; rs104895271

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: TNFRSF1A: 123T>G; D41E

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs104895271

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Annals Of The Rheumatic Diseases

Lachmann, H J HJ; Papa, R R; Gerhold, K K; Obici, L L; Touitou, I I; Cantarini, L L; Frenkel, J J; Anton, J J; Kone-Paut, I I; Cattalini, M M; Bader-Meunier, B B; Insalaco, A A; Hentgen, V V; Merino, R R; Modesto, C C; Toplak, N N; Berendes, R R; Ozen, S S; Cimaz, R R; Jansson, A A; Brogan, P A PA; Hawkins, P N PN; Ruperto, N N; Martini, A A; Woo, P P; Gattorno, M M; ,

Publication Date: 2014-12

Variant appearance in text: TNFRSF1A: Asp41Glu

PubMed Link: 23965844

Variant Present in the following documents:

• Main text
• annrheumdis-2013-204184.pdf

View BVdb publication page

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