Publications:

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Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Nature Genetics

Körber, Verena V; Stainczyk, Sabine A SA; Kurilov, Roma R; Henrich, Kai-Oliver KO; Hero, Barbara B; Brors, Benedikt B; Westermann, Frank F; Höfer, Thomas T

Publication Date: 2023-03-27

Variant appearance in text: PCNT: R143H; rs58106867

PubMed Link: 36973454

Variant Present in the following documents:

• 41588_2023_1332_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: PCNT: R143H

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: PCNT: 428G>A; Arg143His; rs58106867

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: PCNT: R143H

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: PCNT: R143H; rs58106867

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets.

Nature Communications

van Riet, Job J; van de Werken, Harmen J G HJG; Cuppen, Edwin E; Eskens, Ferry A L M FALM; Tesselaar, Margot M; van Veenendaal, Linde M LM; Klümpen, Heinz-Josef HJ; Dercksen, Marcus W MW; Valk, Gerlof D GD; Lolkema, Martijn P MP; Sleijfer, Stefan S; Mostert, Bianca B

Publication Date: 2021-07-29

Variant appearance in text: PCNT: 428G>A; Arg143His; rs58106867

PubMed Link: 34326338

Variant Present in the following documents:

• 41467_2021_24812_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: PCNT: R143H

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: PCNT: 428G>A; R143H; rs58106867

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: PCNT: 428G>A; R143H

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: rs58106867

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).

Frontiers In Pediatrics

Dehghan Tezerjani, Masoud M; Vahidi Mehrjardi, Mohammad Yahya MY; Hozhabri, Hossein H; Rahmanian, Masoud M

Publication Date: 2020

Variant appearance in text: PCNT: 428G>A; Arg143His

PubMed Link: 32671003

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: PCNT: R143H; rs58106867

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 9

View BVdb publication page

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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

Genome Medicine

Hsieh, Alexander A; Morton, Sarah U SU; Willcox, Jon A L JAL; Gorham, Joshua M JM; Tai, Angela C AC; Qi, Hongjian H; DePalma, Steven S; McKean, David D; Griffin, Emily E; Manheimer, Kathryn B KB; Bernstein, Daniel D; Kim, Richard W RW; Newburger, Jane W JW; Porter, George A GA; Srivastava, Deepak D; Tristani-Firouzi, Martin M; Brueckner, Martina M; Lifton, Richard P RP; Goldmuntz, Elizabeth E; Gelb, Bruce D BD; Chung, Wendy K WK; Seidman, Christine E CE; Seidman, J G JG; Shen, Yufeng Y

Publication Date: 2020-04-29

Variant appearance in text: PCNT: R143H

PubMed Link: 32349777

Variant Present in the following documents:

• 13073_2020_738_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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A case report of multiple primary prostate tumors with differential drug sensitivity.

Nature Communications

Wilkinson, Scott S; Harmon, Stephanie A SA; Terrigino, Nicholas T NT; Karzai, Fatima F; Pinto, Peter A PA; Madan, Ravi A RA; VanderWeele, David J DJ; Lake, Ross R; Atway, Rayann R; Bright, John R JR; Carrabba, Nicole V NV; Trostel, Shana Y SY; Lis, Rosina T RT; Chun, Guinevere G; Gulley, James L JL; Merino, Maria J MJ; Choyke, Peter L PL; Ye, Huihui H; Dahut, William L WL; Turkbey, Baris B; Sowalsky, Adam G AG

Publication Date: 2020-02-13

Variant appearance in text: PCNT: R143H

PubMed Link: 32054861

Variant Present in the following documents:

• 41467_2020_14657_MOESM4_ESM.xlsx, sheet 2

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: PCNT: R143H; rs58106867

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: PCNT: R143H

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 2
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: PCNT: 428G>A; Arg143His

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 3

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: PCNT: R143H; rs58106867

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: PCNT: 428G>A; Arg143His

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

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: PCNT: R143H; rs58106867

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 4
• 41467_2017_2688_MOESM14_ESM.xls, sheet 3
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: PCNT: 428G>A; R143H; rs58106867

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1
• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: PCNT: 428G>A; Arg143His

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: PCNT: 428G>A; Arg143His

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: rs58106867

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: PCNT: 428G>A; R143H

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: PCNT: R143H; rs58106867

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PCNT: R143H; rs58106867

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.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: PCNT: R143H; rs58106867

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: PCNT: 428G>A; R143H; rs58106867

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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