Publications:

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The genomic landscape of pediatric renal cell carcinomas.

Iscience

Beck, Pengbo P; Selle, Barbara B; Madenach, Lukas L; Jones, David T W DTW; Vokuhl, Christian C; Gopisetty, Apurva A; Nabbi, Arash A; Brecht, Ines B IB; Ebinger, Martin M; Wegert, Jenny J; Graf, Norbert N; Gessler, Manfred M; Pfister, Stefan M SM; Jäger, Natalie N

Publication Date: 2022-04-15

Variant appearance in text: PCNXL2: R1169W; rs150235720

PubMed Link: 35445187

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.

Orphanet Journal Of Rare Diseases

Mutai, Hideki H; Momozawa, Yukihide Y; Kamatani, Yoichiro Y; Nakano, Atsuko A; Sakamoto, Hirokazu H; Takiguchi, Tetsuya T; Nara, Kiyomitsu K; Kubo, Michiaki M; Matsunaga, Tatsuo T

Publication Date: 2022-03-05

Variant appearance in text: PCNX2: 3505C>T; Arg1169Trp

PubMed Link: 35248088

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2262.pdf
• 13023_2022_2262_MOESM10_ESM.pdf
• 13023_2022_2262_MOESM9_ESM.pdf

View BVdb publication page

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Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Nature Communications

Rusch, Michael M; Nakitandwe, Joy J; Shurtleff, Sheila S; Newman, Scott S; Zhang, Zhaojie Z; Edmonson, Michael N MN; Parker, Matthew M; Jiao, Yuannian Y; Ma, Xiaotu X; Liu, Yanling Y; Gu, Jiali J; Walsh, Michael F MF; Becksfort, Jared J; Thrasher, Andrew A; Li, Yongjin Y; McMurry, James J; Hedlund, Erin E; Patel, Aman A; Easton, John J; Yergeau, Donald D; Vadodaria, Bhavin B; Tatevossian, Ruth G RG; Raimondi, Susana S; Hedges, Dale D; Chen, Xiang X; Hagiwara, Kohei K; McGee, Rose R; Robinson, Giles W GW; Klco, Jeffery M JM; Gruber, Tanja A TA; Ellison, David W DW; Downing, James R JR; Zhang, Jinghui J

Publication Date: 2018-09-27

Variant appearance in text: PCNXL2: R1169W

PubMed Link: 30262806

Variant Present in the following documents:

• 41467_2018_6485_MOESM9_ESM.xlsx, sheet 1

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: PCNXL2: R1169W; rs150235720

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 5
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4

View BVdb publication page

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Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0.

Journal Of Cellular And Molecular Medicine

Manchev, Vladimir T VT; Bouzid, Hind H; Antony-Debré, Iléana I; Leite, Betty B; Meurice, Guillaume G; Droin, Nathalie N; Prebet, Thomas T; Costello, Régis T RT; Vainchenker, William W; Plo, Isabelle I; Diop, M'boyba M; Macintyre, Elizabeth E; Asnafi, Vahid V; Favier, Rémi R; Baccini, Véronique V; Raslova, Hana H

Publication Date: 2017-06

Variant appearance in text: PCNXL2: R1169W

PubMed Link: 27997762

Variant Present in the following documents:

• Main text
• JCMM-21-1237-s002.xlsx, sheet 3
• JCMM-21-1237.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: PCNXL2: 3505C>T; rs150235720

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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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: PCNXL2: R1169W

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 31

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PCNXL2: R1169W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: PCNXL2: R1169W; rs150235720

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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