Publications:

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Genes

Ravasi, Giulia G; Pelucchi, Sara S; Bertola, Francesca F; Capelletti, Martina Maria MM; Mariani, Raffaella R; Piperno, Alberto A

Publication Date: 2021-11-09

Variant appearance in text: rs121918677

PubMed Link: 34828384

Variant Present in the following documents:

• Main text
• genes-12-01778.pdf

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Doxorubicin-induced elevated oxidative stress and neurochemical alterations in brain and cognitive decline: protection by MESNA and insights into mechanisms of chemotherapy-induced cognitive impairment ("chemobrain").

Oncotarget

Keeney, Jeriel T R JTR; Ren, Xiaojia X; Warrier, Govind G; Noel, Teresa T; Powell, David K DK; Brelsfoard, Jennifer M JM; Sultana, Rukhsana R; Saatman, Kathryn E KE; Clair, Daret K St DKS; Butterfield, D Allan DA

Publication Date: 2018-07-13

Variant appearance in text: TF: G671V

PubMed Link: 30100992

Variant Present in the following documents:

• oncotarget-09-30324.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs121918677

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs121918677

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124.pdf

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs121918677

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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