Publications:

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: XPNPEP2: 644C>T; rs138365897

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

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: XPNPEP2: T215I; rs138365897

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Plos One

França, Monica M MM; Funari, Mariana F A MFA; Lerario, Antonio M AM; Santos, Mariza G MG; Nishi, Mirian Y MY; Domenice, Sorahia S; Moraes, Daniela R DR; Costalonga, Everlayny F EF; Maciel, Gustavo A R GAR; Maciel-Guerra, Andrea T AT; Guerra-Junior, Gil G; Mendonca, Berenice B BB

Publication Date: 2020

Variant appearance in text: rs138365897

PubMed Link: 33095795

Variant Present in the following documents:

• Main text
• pone.0240795.pdf

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: XPNPEP2: T215I

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: XPNPEP2: T215I; rs138365897

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: XPNPEP2: T215I

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Plos Genetics

Callier, Patrick P; Calvel, Pierre P; Matevossian, Armine A; Makrythanasis, Periklis P; Bernard, Pascal P; Kurosaka, Hiroshi H; Vannier, Anne A; Thauvin-Robinet, Christel C; Borel, Christelle C; Mazaud-Guittot, Séverine S; Rolland, Antoine A; Desdoits-Lethimonier, Christèle C; Guipponi, Michel M; Zimmermann, Céline C; Stévant, Isabelle I; Kuhne, Françoise F; Conne, Béatrice B; Santoni, Federico F; Lambert, Sandy S; Huet, Frederic F; Mugneret, Francine F; Jaruzelska, Jadwiga J; Faivre, Laurence L; Wilhelm, Dagmar D; Jégou, Bernard B; Trainor, Paul A PA; Resh, Marilyn D MD; Antonarakis, Stylianos E SE; Nef, Serge S

Publication Date: 2014-05

Variant appearance in text: XPNPEP2: 644C>T; Thr215Ile; rs138365897

PubMed Link: 24784881

Variant Present in the following documents:

• Main text
• pgen.1004340.pdf

View BVdb publication page

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