Publications:

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Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A.

The New England Journal Of Medicine

George, Lindsey A LA; Monahan, Paul E PE; Eyster, M Elaine ME; Sullivan, Spencer K SK; Ragni, Margaret V MV; Croteau, Stacy E SE; Rasko, John E J JEJ; Recht, Michael M; Samelson-Jones, Benjamin J BJ; MacDougall, Amy A; Jaworski, Kristen K; Noble, Robert R; Curran, Marla M; Kuranda, Klaudia K; Mingozzi, Federico F; Chang, Tiffany T; Reape, Kathleen Z KZ; Anguela, Xavier M XM; High, Katherine A KA

Publication Date: 2021-11-18

Variant appearance in text: FVIII: Arg2166X

PubMed Link: 34788507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Feng, Yin Y; Li, Qianqian Q; Shi, Panlai P; Liu, Ning N; Kong, Xiangdong X; Guo, Ruixia R

Publication Date: 2021-01

Variant appearance in text: F8: 6496C>T; Arg2166Ter

PubMed Link: 33245802

Variant Present in the following documents:

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: F8: 6496C>T; R2166*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Atik, Tahir T; Işık, Esra E; Onay, Hüseyin H; Akgün, Bilçağ B; Shamsali, Moharram M; Kavaklı, Kaan K; Evim, Melike M; Tüysüz, Gülen G; Özbek, Namık Yaşar NY; Şahin, Fahri F; Salcıoğlu, Zafer Z; Albayrak, Canan C; Oymak, Yeşim Y; Ünal, Ekrem E; Belen, Fatma Burcu FB; Yılmaz Keskin, Ebru E; Balkan, Can C; Baytan, Birol B; Küpesiz, Alphan A; Culha, Vildan V; Tahtakesen Güçer, Tuba Nur TN; Güneş, Adalet Meral AM; Özkınay, Ferda F

Publication Date: 2020-08-28

Variant appearance in text: F8: R2166*

PubMed Link: 32026663

Variant Present in the following documents:

• TJH-37-145.pdf

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: F8: 6496C>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: F8: 6496C>T; R2166*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One

Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: FVIII: 6496C>T

PubMed Link: 24845853

Variant Present in the following documents:

• Main text
• pone.0097337.pdf

View BVdb publication page

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