Publications:

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: GUCA1C: 52G>T; Glu18Ter

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Animal Model Contributions to Primary Congenital Glaucoma.

Journal Of Ophthalmology

Xia, Qiongrong Q; Zhang, Dingding D; Zhuang, Yue Y; Dai, Yuqian Y; Jia, Haiping H; Du, Qiu Q; Wen, Taishen T; Jiang, Yuanyuan Y

Publication Date: 2022

Variant appearance in text: GUCA1C: 52G>T

PubMed Link: 35663518

Variant Present in the following documents:

• Main text
• JOPH2022-6955461.pdf

View BVdb publication page

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An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.

Genes

Souzeau, Emmanuelle E; Weisschuh, Nicole N; Craig, Jamie E JE; Pasutto, Francesca F; Koch, Karl-Wilhelm KW

Publication Date: 2021-03-02

Variant appearance in text: GUCA1C: Glu18Ter

PubMed Link: 33801495

Variant Present in the following documents:

• Main text
• genes-12-00359.pdf

View BVdb publication page

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Mutation profiling in eight cases of vagal paragangliomas.

Bmc Medical Genomics

Kudryavtseva, Anna V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Savvateeva, Maria V MV; Fedorova, Maria S MS; Pudova, Elena A EA; Kobelyatskaya, Anastasiya A AA; Golovyuk, Alexander L AL; Guvatova, Zulfiya G ZG; Razmakhaev, George S GS; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Slavnova, Elena N EN; Poloznikov, Andrey А AА; Polyakov, Andrey P AP; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV

Publication Date: 2020-09-18

Variant appearance in text: GUCA1C: E18X; rs143174402

PubMed Link: 32948195

Variant Present in the following documents:

• 12920_2020_763_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.

Genes

Morales-Cámara, Samuel S; Alexandre-Moreno, Susana S; Bonet-Fernández, Juan-Manuel JM; Atienzar-Aroca, Raquel R; Aroca-Aguilar, José-Daniel JD; Ferre-Fernández, Jesús-José JJ; Méndez, Carmen-Dora CD; Morales, Laura L; Fernández-Sánchez, Laura L; Cuenca, Nicolas N; Coca-Prados, Miguel M; Martínez-de-la-Casa, José-María JM; Garcia-Feijoo, Julián J; Escribano, Julio J

Publication Date: 2020-05-14

Variant appearance in text: GUCA1C: 52G>T; rs143174402

PubMed Link: 32422965

Variant Present in the following documents:

• Main text
• genes-11-00550.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: GUCA1C: E18*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 61
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 35

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: GUCA1C: E18X; rs143174402

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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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: GUCA1C: E18X; rs143174402

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Bmc Medical Genetics

Modi, Bhavi P BP; Parikh, Hardik I HI; Teves, Maria E ME; Kulkarni, Rewa R; Liyu, Jiang J; Romero, Roberto R; York, Timothy P TP; Strauss, Jerome F JF

Publication Date: 2018-10-05

Variant appearance in text: GUCA1C: 52G>T; rs143174402

PubMed Link: 30290772

Variant Present in the following documents:

• Main text
• 12881_2018_Article_696.pdf

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: GUCA1C: E18X; rs143174402

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women.

Journal Of The Endocrine Society

Moriwaki, Mika M; Moore, Barry B; Mosbruger, Timothy T; Neklason, Deborah W DW; Yandell, Mark M; Jorde, Lynn B LB; Welt, Corrine K CK

Publication Date: 2017-03-01

Variant appearance in text: GUCA1C: 52G>T; Glu18Ter; rs143174402

PubMed Link: 29367954

Variant Present in the following documents:

• Main text
• js-01-162.pdf

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: GUCA1C: 52G>T; E18*; rs143174402

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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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: GUCA1C: E18X; rs143174402

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports

Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G

Publication Date: 2016-08-22

Variant appearance in text: GUCA1C: E18*

PubMed Link: 27545006

Variant Present in the following documents:

• srep31628-s2.xls, sheet 2

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: GUCA1C: 52G>T; E18*; rs143174402

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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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: GUCA1C: E18X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: GUCA1C: E18*; rs143174402

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 7
• NIHMS753666-supplement-2.xlsx, sheet 10

View BVdb publication page

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Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Molecular Autism

Griswold, Anthony J AJ; Dueker, Nicole D ND; Van Booven, Derek D; Rantus, Joseph A JA; Jaworski, James M JM; Slifer, Susan H SH; Schmidt, Michael A MA; Hulme, William W; Konidari, Ioanna I; Whitehead, Patrice L PL; Cuccaro, Michael L ML; Martin, Eden R ER; Haines, Jonathan L JL; Gilbert, John R JR; Hussman, John P JP; Pericak-Vance, Margaret A MA

Publication Date: 2015

Variant appearance in text: GUCA1C: E18X

PubMed Link: 26185613

Variant Present in the following documents:

• 13229_2015_34_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Plos One

Hallengren, Erik E; Almgren, Peter P; Engström, Gunnar G; Persson, Margaretha M; Melander, Olle O

Publication Date: 2015

Variant appearance in text: GUCA1C: E18X; rs143174402

PubMed Link: 26086970

Variant Present in the following documents:

• pone.0128348.s002.xlsx, sheet 1

View BVdb publication page

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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Human Molecular Genetics

Pagnamenta, Alistair T AT; Howard, Malcolm F MF; Wisniewski, Eva E; Popitsch, Niko N; Knight, Samantha J L SJ; Keays, David A DA; Quaghebeur, Gerardine G; Cox, Helen H; Cox, Phillip P; Balla, Tamas T; Taylor, Jenny C JC; Kini, Usha U

Publication Date: 2015-07-01

Variant appearance in text: GUCA1C: 52G>T; E18*

PubMed Link: 25855803

Variant Present in the following documents:

• supp_ddv117_ddv117supp_table2.xls, sheet 1

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: GUCA1C: E18*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-8.xlsx, sheet 1

View BVdb publication page

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