Publications:

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Genetic changes associated with relapse in favorable histology Wilms tumor: A Children's Oncology Group AREN03B2 study.

Cell Reports. Medicine

Gadd, Samantha S; Huff, Vicki V; Skol, Andrew D AD; Renfro, Lindsay A LA; Fernandez, Conrad V CV; Mullen, Elizabeth A EA; Jones, Corbin D CD; Hoadley, Katherine A KA; Yap, Kai Lee KL; Ramirez, Nilsa C NC; Aris, Sheena S; Phung, Quy H QH; Perlman, Elizabeth J EJ

Publication Date: 2022-06-21

Variant appearance in text: rs141067458

PubMed Link: 35617957

Variant Present in the following documents:

• Main text
• mmc3.xlsx, sheet 1
• mmc6.pdf
• main.pdf

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: DIS3: 2875T>C

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma.

Leukemia

Pertesi, Maroulio M; Vallée, Maxime M; Wei, Xiaomu X; Revuelta, Maria V MV; Galia, Perrine P; Demangel, Delphine D; Oliver, Javier J; Foll, Matthieu M; Chen, Siwei S; Perrial, Emeline E; Garderet, Laurent L; Corre, Jill J; Leleu, Xavier X; Boyle, Eileen M EM; Decaux, Olivier O; Rodon, Philippe P; Kolb, Brigitte B; Slama, Borhane B; Mineur, Philippe P; Voog, Eric E; Le Bris, Catherine C; Fontan, Jean J; Maigre, Michel M; Beaumont, Marie M; Azais, Isabelle I; Sobol, Hagay H; Vignon, Marguerite M; Royer, Bruno B; Perrot, Aurore A; Fuzibet, Jean-Gabriel JG; Dorvaux, Véronique V; Anglaret, Bruno B; Cony-Makhoul, Pascale P; Berthou, Christian C; Desquesnes, Florence F; Pegourie, Brigitte B; Leyvraz, Serge S; Mosser, Laurent L; Frenkiel, Nicole N; Augeul-Meunier, Karine K; Leduc, Isabelle I; Leyronnas, Cécile C; Voillat, Laurent L; Casassus, Philippe P; Mathiot, Claire C; Cheron, Nathalie N; Paubelle, Etienne E; Moreau, Philippe P; Bignon, Yves-Jean YJ; Joly, Bertrand B; Bourquard, Pascal P; Caillot, Denis D; Naman, Hervé H; Rigaudeau, Sophie S; Marit, Gérald G; Macro, Margaret M; Lambrecht, Isabelle I; Cliquennois, Manuel M; Vincent, Laure L; Helias, Philippe P; Avet-Loiseau, Hervé H; Moreno, Victor V; Reis, Rui Manuel RM; Varkonyi, Judit J; Kruszewski, Marcin M; Vangsted, Annette Juul AJ; Jurczyszyn, Artur A; Zaucha, Jan Maciej JM; Sainz, Juan J; Krawczyk-Kulis, Malgorzata M; Wątek, Marzena M; Pelosini, Matteo M; Iskierka-Jażdżewska, Elzbieta E; Grząśko, Norbert N; Martinez-Lopez, Joaquin J; Jerez, Andrés A; Campa, Daniele D; Buda, Gabriele G; Lesueur, Fabienne F; Dudziński, Marek M; García-Sanz, Ramón R; Nagler, Arnon A; Rymko, Marcin M; Jamroziak, Krzysztof K; Butrym, Aleksandra A; Canzian, Federico F; Obazee, Ofure O; Nilsson, Björn B; Klein, Robert J RJ; Lipkin, Steven M SM; McKay, James D JD; Dumontet, Charles C

Publication Date: 2019-09

Variant appearance in text: DIS3: 2875T>C; rs141067458

PubMed Link: 30967618

Variant Present in the following documents:

• Main text
• 41375_2019_Article_452.pdf
• 41375_2019_452_MOESM1_ESM.pdf

View BVdb publication page

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Human MLL/KMT2A gene exhibits a second breakpoint cluster region for recurrent MLL-USP2 fusions.

Leukemia

Meyer, Claus C; Lopes, Bruno A BA; Caye-Eude, Aurélie A; Cavé, Hélène H; Arfeuille, Chloé C; Cuccuini, Wendy W; Sutton, Rosemary R; Venn, Nicola C NC; Oh, Seung Hwan SH; Tsaur, Grigory G; Escherich, Gabriele G; Feuchtinger, Tobias T; Kosasih, Hansen J HJ; Khaw, Seong L SL; Ekert, Paul G PG; Pombo-de-Oliveira, Maria S MS; Bidet, Audrey A; Djahanschiri, Bardya B; Ebersberger, Ingo I; Zaliova, Marketa M; Zuna, Jan J; Zermanova, Zuzana Z; Juvonen, Vesa V; Grümayer, Renate Panzer RP; Fazio, Grazia G; Cazzaniga, Gianni G; Larghero, Patrizia P; Emerenciano, Mariana M; Marschalek, Rolf R

Publication Date: 2019-09

Variant appearance in text: DIS3: 2875T>C; rs141067458

PubMed Link: 30899083

Variant Present in the following documents:

• 41375_2019_Article_451.pdf

View BVdb publication page

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: DIS3: 2875T>C; rs141067458

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs141067458

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Genome Biology

Jansen, Iris E IE; Ye, Hui H; Heetveld, Sasja S; Lechler, Marie C MC; Michels, Helen H; Seinstra, Renée I RI; Lubbe, Steven J SJ; Drouet, Valérie V; Lesage, Suzanne S; Majounie, Elisa E; Gibbs, J Raphael JR; Nalls, Mike A MA; Ryten, Mina M; Botia, Juan A JA; Vandrovcova, Jana J; Simon-Sanchez, Javier J; Castillo-Lizardo, Melissa M; Rizzu, Patrizia P; Blauwendraat, Cornelis C; Chouhan, Amit K AK; Li, Yarong Y; Yogi, Puja P; Amin, Najaf N; van Duijn, Cornelia M CM; , ; Morris, Huw R HR; Brice, Alexis A; Singleton, Andrew B AB; David, Della C DC; Nollen, Ellen A EA; Jain, Shushant S; Shulman, Joshua M JM; Heutink, Peter P

Publication Date: 2017-01-30

Variant appearance in text: rs141067458

PubMed Link: 28137300

Variant Present in the following documents:

• Main text

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: DIS3: 2875T>C; rs141067458

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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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: rs141067458

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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