Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: CELSR3: M2630I

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

Cns Neuroscience & Therapeutics

Li, Jia J; Lin, Si-Mei SM; Qiao, Jing-Da JD; Liu, Xiao-Rong XR; Wang, Jie J; Jiang, Mi M; Zhang, Jing J; Zhong, Min M; Chen, Xu-Qin XQ; Zhu, Jing J; He, Na N; Su, Tao T; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP; ,

Publication Date: 2022-03

Variant appearance in text: CELSR3: 7890G>A; Met2630Ile

PubMed Link: 34951123

Variant Present in the following documents:

• Main text
• CNS-28-382.pdf

View BVdb publication page

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Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells

Wang, Mingqin M; Marco, Patrizia de P; Capra, Valeria V; Kibar, Zoha Z

Publication Date: 2019-10-04

Variant appearance in text: N/A

PubMed Link: 31590237

Variant Present in the following documents:

View BVdb publication page

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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

Annals Of Clinical And Translational Neurology

Punetha, Jaya J; Karaca, Ender E; Gezdirici, Alper A; Lamont, Ryan E RE; Pehlivan, Davut D; Marafi, Dana D; Appendino, Juan P JP; Hunter, Jill V JV; Akdemir, Zeynep C ZC; Fatih, Jawid M JM; Jhangiani, Shalini N SN; Gibbs, Richard A RA; Innes, A Micheil AM; Posey, Jennifer E JE; Lupski, James R JR

Publication Date: 2019-08

Variant appearance in text: rs149614835

PubMed Link: 31402629

Variant Present in the following documents:

• Main text
• ACN3-6-1395.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: CELSR3: M2630I

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 39
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 40

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: CELSR3: M2630I; rs149614835

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Clinical Genetics

Ishida, M M; Cullup, T T; Boustred, C C; James, C C; Docker, J J; English, C C; , ; Lench, N N; Copp, A J AJ; Moore, G E GE; Greene, N D E NDE; Stanier, P P

Publication Date: 2018-04

Variant appearance in text: CELSR3: 7890G>A; Met2630Ile; rs149614835

PubMed Link: 29205322

Variant Present in the following documents:

• CGE-93-870-s003.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: rs149614835

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: rs149614835

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, 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: CELSR3: M2630I

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Plos One

Pippucci, Tommaso T; Parmeggiani, Antonia A; Palombo, Flavia F; Maresca, Alessandra A; Angius, Andrea A; Crisponi, Laura L; Cucca, Francesco F; Liguori, Rocco R; Valentino, Maria Lucia ML; Seri, Marco M; Carelli, Valerio V

Publication Date: 2013

Variant appearance in text: CELSR3: 7890G>A; M2630I; rs149614835

PubMed Link: 24358150

Variant Present in the following documents:

• Main text
• pone.0082154.pdf

View BVdb publication page

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