Publications:

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Challenges in the Diagnosis and Management of Non-Severe Hemophilia.

Journal Of Clinical Medicine

Boeriu, Estera E; Arghirescu, Teodora Smaranda TS; Serban, Margit M; Patrascu, Jenel Marian JM; Boia, Eugen E; Jinca, Cristian C; Schramm, Wolfgang W; Traila, Adina A; Ursu, Cristina Emilia CE

Publication Date: 2022-06-09

Variant appearance in text: F8: 6977G>A

PubMed Link: 35743393

Variant Present in the following documents:

• Main text
• jcm-11-03322.pdf

View BVdb publication page

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Severe COVID-19 Infection Management in a Patient with Mild Haemophilia-A Case Report.

Hematology Reports

Anžej Doma, Saša S; Lukič, Milica M

Publication Date: 2022-03-30

Variant appearance in text: FVIII: 6977G>A

PubMed Link: 35466179

Variant Present in the following documents:

• Main text
• hematolrep-14-00015.pdf

View BVdb publication page

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Genetic analysis of carrier status in female members of Japanese hemophilia families.

Journal Of Thrombosis And Haemostasis : Jth

Shinozawa, Keiko K; Amano, Kagehiro K; Hagiwara, Takeshi T; Bingo, Masato M; Chikasawa, Yushi Y; Inaba, Hiroshi H; Kinai, Ei E; Fukutake, Katsuyuki K

Publication Date: 2021-06

Variant appearance in text: F8: 6977G>A

PubMed Link: 33760382

Variant Present in the following documents:

• Main text
• JTH-19-1493.pdf

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: 6977G>A; Arg2326Gln

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: 6977G>A; R2326Q

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: F8: R2326Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: F8: 6977G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..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: R2326Q

PubMed Link: 32026663

Variant Present in the following documents:

• TJH-37-145.pdf

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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: R2326Q

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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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: HEMA: R2326Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: R2326Q

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: 6977G>A

PubMed Link: 24845853

Variant Present in the following documents:

• Main text
• pone.0097337.pdf

View BVdb publication page

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