Publications:

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Safe and Successful Surgical Outcome in Persons with Hemophilia A with and without Inhibitors Treated with Emicizumab: A Large, Single Center, Real-World Experience.

Journal Of Clinical Medicine

Castaman, Giancarlo G; Linari, Silvia S; Pieri, Lisa L; Carulli, Christian C; Prosperi, Paolo P; Tonelli, Paolo P; Demartis, Francesco F; Fjerza, Rajmonda R; Attanasio, Monica M; Coppo, Mirella M; Salvianti, Francesca F

Publication Date: 2023-03-16

Variant appearance in text: FVIII: Arg2182His

PubMed Link: 36983317

Variant Present in the following documents:

• jcm-12-02317.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs137852466

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs137852466

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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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: Arg2182His

PubMed Link: 34788507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine

Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N

Publication Date: 2021-07-16

Variant appearance in text: rs137852466

PubMed Link: 34272389

Variant Present in the following documents:

• 41525_2021_228_MOESM1_ESM.pdf

View BVdb publication page

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Genetic causes of haemophilia in women and girls.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Miller, Connie H CH; Bean, Christopher J CJ

Publication Date: 2021-03

Variant appearance in text: F8: 6545G>A

PubMed Link: 33314404

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: 6545G>A; Arg2182His

PubMed Link: 33245802

Variant Present in the following documents:

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: R2182H

PubMed Link: 32026663

Variant Present in the following documents:

• TJH-37-145.pdf

View BVdb publication page

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: R2182H

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: F8: 6545G>A; Arg2182His

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.

Molecular Genetics & Genomic Medicine

Mason, Jane A JA; Aung, Hnin T HT; Nandini, Adayapalam A; Woods, Rickie G RG; Fairbairn, David J DJ; Rowell, John A JA; Young, David D; Susman, Rachel D RD; Brown, Simon A SA; Hyland, Valentine J VJ; Robertson, Jeremy D JD

Publication Date: 2018-05

Variant appearance in text: F8: 6545G>A

PubMed Link: 29490426

Variant Present in the following documents:

• Main text
• MGG3-6-357.pdf

View BVdb publication page

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Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression.

Plos One

Krøigård, Anne Bruun AB; Larsen, Martin Jakob MJ; Lænkholm, Anne-Vibeke AV; Knoop, Ann S AS; Jensen, Jeanette Dupont JD; Bak, Martin M; Mollenhauer, Jan J; Thomassen, Mads M; Kruse, Torben A TA

Publication Date: 2018

Variant appearance in text: F8: 6545G>A; R2182H; rs137852466

PubMed Link: 29293529

Variant Present in the following documents:

• pone.0189887.s007.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: F8: R2182H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: 6545G>A

PubMed Link: 24845853

Variant Present in the following documents:

• Main text
• pone.0097337.pdf

View BVdb publication page

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