Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: GRIN2A: 2190C>T; Y730Y

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

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: GRIN2A: Y730Y

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 32

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GRIN2A: 2190C>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: GRIN2A: 2190C>T

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: GRIN2A: Y730Y; rs61753382

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.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: GRIN2A: Y730Y; rs61753382

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Nature Genetics

Carvill, Gemma L GL; Regan, Brigid M BM; Yendle, Simone C SC; O'Roak, Brian J BJ; Lozovaya, Natalia N; Bruneau, Nadine N; Burnashev, Nail N; Khan, Adiba A; Cook, Joseph J; Geraghty, Eileen E; Sadleir, Lynette G LG; Turner, Samantha J SJ; Tsai, Meng-Han MH; Webster, Richard R; Ouvrier, Robert R; Damiano, John A JA; Berkovic, Samuel F SF; Shendure, Jay J; Hildebrand, Michael S MS; Szepetowski, Pierre P; Scheffer, Ingrid E IE; Mefford, Heather C HC

Publication Date: 2013-09

Variant appearance in text: rs61753382

PubMed Link: 23933818

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of NMDA receptor genes (GRIN2A, GRIN2B and GRIN2C) as candidate genes in the development of degenerative lumbar scoliosis.

Experimental And Therapeutic Medicine

Kim, Ki-Tack KT; Kim, Jinsung J; Han, Yoo Jin YJ; Kim, Jun Ho JH; Lee, Jong Seok JS; Chung, Joo-Ho JH

Publication Date: 2013-03

Variant appearance in text: GRIN2A: Tyr730Tyr

PubMed Link: 23408766

Variant Present in the following documents:

• Main text
• etm-05-03-0977.pdf

View BVdb publication page

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