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: CD27: 158G>A; Cys53Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology

Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S

Publication Date: 2022

Variant appearance in text: TNFRSF7: Cys53Tyr

PubMed Link: 35990641

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

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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: CD27: C53Y; rs397514667

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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Structural delineation and phase-dependent activation of the costimulatory CD27:CD70 complex.

The Journal Of Biological Chemistry

Liu, Weifeng W; Maben, Zachary Z; Wang, Carole C; Lindquist, Kevin C KC; Li, Manqing M; Rayannavar, Vinayak V; Lopez Armenta, Ilsel I; Nager, Andrew A; Pascua, Edward E; Dominik, Pawel K PK; Oyen, David D; Wang, Hui H; Roach, Rachel Carson RC; Allan, Corey M CM; Mosyak, Lidia L; Chaparro-Riggers, Javier J

Publication Date: 2021-10

Variant appearance in text: CD27: C53Y

PubMed Link: 34419446

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Chronic Active Epstein-Barr Virus Infection: Is It Immunodeficiency, Malignancy, or Both?

Cancers

Fujiwara, Shigeyoshi S; Nakamura, Hiroyuki H

Publication Date: 2020-10-30

Variant appearance in text: CD27: C53Y

PubMed Link: 33143184

Variant Present in the following documents:

• Main text
• cancers-12-03202.pdf

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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Blood

Ghosh, Sujal S; Köstel Bal, Sevgi S; Edwards, Emily S J ESJ; Pillay, Bethany B; Jiménez Heredia, Raúl R; Erol Cipe, Funda F; Rao, Geetha G; Salzer, Elisabeth E; Zoghi, Samaneh S; Abolhassani, Hassan H; Momen, Tooba T; Gostick, Emma E; Price, David A DA; Zhang, Yu Y; Oler, Andrew J AJ; Gonzaga-Jauregui, Claudia C; Erman, Baran B; Metin, Ayse A; Ilhan, Inci I; Haskologlu, Sule S; Islamoglu, Candan C; Baskin, Kubra K; Ceylaner, Serdar S; Yilmaz, Ebru E; Unal, Ekrem E; Karakukcu, Musa M; Berghuis, Dagmar D; Cole, Theresa T; Gupta, Aditya K AK; Hauck, Fabian F; Kogler, Hubert H; Hoepelman, Andy I M AIM; Baris, Safa S; Karakoc-Aydiner, Elif E; Ozen, Ahmet A; Kager, Leo L; Holzinger, Dirk D; Paulussen, Michael M; Krüger, Renate R; Meisel, Roland R; Oommen, Prasad T PT; Morris, Emma E; Neven, Benedicte B; Worth, Austen A; van Montfrans, Joris J; Fraaij, Pieter L A PLA; Choo, Sharon S; Dogu, Figen F; Davies, E Graham EG; Burns, Siobhan S; Dückers, Gregor G; Becker, Ruy Perez RP; von Bernuth, Horst H; Latour, Sylvain S; Faraci, Maura M; Gattorno, Marco M; Su, Helen C HC; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Lenardo, Michael J MJ; Ma, Cindy S CS; Niehues, Tim T; Aghamohammadi, Asghar A; Rezaei, Nima N; Ikinciogullari, Aydan A; Tangye, Stuart G SG; Lankester, Arjan C AC; Boztug, Kaan K

Publication Date: 2020-12-03

Variant appearance in text: CD27: C53Y

PubMed Link: 32603431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease.

Bmj Case Reports

Kishore, Rashmi R; Gupta, Aditya A; Gupta, Aditya Kumar AK; Kabra, Sushil Kumar SK

Publication Date: 2020-02-09

Variant appearance in text: CD27: C53Y

PubMed Link: 32041749

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).

Frontiers In Immunology

Riaz, Irbaz Bin IB; Faridi, Warda W; Patnaik, Mrinal M MM; Abraham, Roshini S RS

Publication Date: 2019

Variant appearance in text: CD27: C53Y

PubMed Link: 31057537

Variant Present in the following documents:

• Main text
• fimmu-10-00777.pdf

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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine

Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A

Publication Date: 2018-11

Variant appearance in text: CD27: 158G>A; C53Y; rs397514667

PubMed Link: 30293248

Variant Present in the following documents:

• Main text
• MGG3-6-1041.pdf

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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)

van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY

Publication Date: 2015-10

Variant appearance in text: CD27: C53Y

PubMed Link: 26122175

Variant Present in the following documents:

• NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 1

View BVdb publication page

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Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

Haematologica

Salzer, Elisabeth E; Daschkey, Svenja S; Choo, Sharon S; Gombert, Michael M; Santos-Valente, Elisangela E; Ginzel, Sebastian S; Schwendinger, Martina M; Haas, Oskar A OA; Fritsch, Gerhard G; Pickl, Winfried F WF; Förster-Waldl, Elisabeth E; Borkhardt, Arndt A; Boztug, Kaan K; Bienemann, Kirsten K; Seidel, Markus G MG

Publication Date: 2013-03

Variant appearance in text: CD27: Cys53Tyr

PubMed Link: 22801960

Variant Present in the following documents:

• Main text

View BVdb publication page

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