Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 1141A>G; Ser381Gly; rs786203602

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: ATM: 1141A>G; S381G

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

View BVdb publication page

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: ATM: 1141A>G; S381G

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

View BVdb publication page

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Frontiers In Oncology

Nishimura, Toshihide T; Végvári, Ákos Á; Nakamura, Haruhiko H; Kato, Harubumi H; Saji, Hisashi H

Publication Date: 2020

Variant appearance in text: ATM: S381G

PubMed Link: 32983988

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 6

View BVdb publication page