Publications:

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: GRIN2A: 3813G>A; Trp1271*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

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Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric Neurology

Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A

Publication Date: 2017-12

Variant appearance in text: GRIN2A: 3813G>A; Trp1271Ter

PubMed Link: 29056246

Variant Present in the following documents:

• Main text

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Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.

The Journal Of Investigative Dermatology

Prickett, Todd D TD; Zerlanko, Brad J BJ; Hill, Victoria K VK; Gartner, Jared J JJ; Qutob, Nouar N; Jiang, Jiji J; Simaan, May M; Wunderlich, John J; Gutkind, J Silvio JS; Rosenberg, Steven A SA; Samuels, Yardena Y

Publication Date: 2014-09

Variant appearance in text: GRIN2A: W1271X

PubMed Link: 24739903

Variant Present in the following documents:

• Main text
• nihms585518.pdf

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