Publications:

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: SI: 85G>A; V29I

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

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Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine

Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA

Publication Date: 2021-07-16

Variant appearance in text: SI: 85G>A; Val29Met

PubMed Link: 34271981

Variant Present in the following documents:

• 13073_2021_926_MOESM4_ESM.xlsx, sheet 3

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: SI: 85G>A

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 5

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SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.

Scientific Reports

Liu, Yuan Y; Chen, Xue X; Xu, Qihua Q; Gao, Xiang X; Tam, Pancy O S PO; Zhao, Kanxing K; Zhang, Xiumei X; Chen, Li Jia LJ; Jia, Wenshuang W; Zhao, Qingshun Q; Vollrath, Douglas D; Pang, Chi Pui CP; Zhao, Chen C

Publication Date: 2015-10-13

Variant appearance in text: SI: 85G>A

PubMed Link: 26459573

Variant Present in the following documents:

• Main text

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Structural and functional analysis of rare missense mutations in human chorionic gonadotrophin β-subunit.

Molecular Human Reproduction

Nagirnaja, Liina L; Venclovas, Česlovas Č; Rull, Kristiina K; Jonas, Kim C KC; Peltoketo, Hellevi H; Christiansen, Ole B OB; Kairys, Visvaldas V; Kivi, Gaily G; Steffensen, Rudi R; Huhtaniemi, Ilpo T IT; Laan, Maris M

Publication Date: 2012-08

Variant appearance in text: SI: Val29Ile

PubMed Link: 22554618

Variant Present in the following documents:

• Main text
• gas018.pdf

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