Publications:

---

BAY 81-8973 Efficacy and Safety in Previously Untreated and Minimally Treated Children with Severe Hemophilia A: The LEOPOLD Kids Trial.

Thrombosis And Haemostasis

Ljung, Rolf R; Chan, Anthony K C AKC; Glosli, Heidi H; Afonja, Olubunmi O; Becker, Bastian B; Tseneklidou-Stoeter, Despina D; Mancuso, Maria Elisa ME; Saulyte-Trakymiene, Sonata S; Kenet, Gili G

Publication Date: 2023-01

Variant appearance in text: FVIII: 3864A>C; Ser1288Ser

PubMed Link: 36626898

Variant Present in the following documents:

• 10-1055-s-0042-1757876-s22030113.pdf

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: F8: S1288S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: F8: S1288S

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One

Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F

Publication Date: 2021

Variant appearance in text: F8: S1288S; rs1800292

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s001.pdf

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: F8: S1288S; rs1800292

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1800292

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: F8: 3864A>C; rs1800292

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

[Analysis of factor Ⅷ gene mutations in a family with hemophilia A].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Li, D L DL; Li, B L BL; Zhao, Z D ZD; Cao, W W

Publication Date: 2016-08-14

Variant appearance in text: FVIII: 3864A>C; Ser1288Ser

PubMed Link: 27587255

Variant Present in the following documents:

• cjh-37-08-705.pdf

View BVdb publication page

---

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: F8: S1288S

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2

View BVdb publication page

---

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: rs1800292

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: F8: S1288S; rs1800292

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: F8: S1288S; rs1800292

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.

Blood Research

Seo, Ja Young JY; Jang, Mi-Ae MA; Kim, Hee-Jung HJ; Lee, Ki-O KO; Kim, Sun-Hee SH; Kim, Hee-Jin HJ

Publication Date: 2013-09

Variant appearance in text: F8: 3864A>C; Ser1288=; rs1800292

PubMed Link: 24086941

Variant Present in the following documents:

• Main text
• br-48-206.pdf

View BVdb publication page

---

Identification of novel mutations in exon 14 of the f8 gene in malaysian patients with severe hemophilia a.

Indian Journal Of Clinical Biochemistry : Ijcb

Moses, Emmanuel Jairaj EJ; Ling, Sim Pei SP; Al-Hassan, Faisal Muti FM; Karim, Faraizah Abdul FA; Yusoff, Narazah Mohd NM

Publication Date: 2012-04

Variant appearance in text: FVIII: Ser1288Ser

PubMed Link: 23543988

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.

Blood

Viel, Kevin R KR; Machiah, Deepa K DK; Warren, Diane M DM; Khachidze, Manana M; Buil, Alfonso A; Fernstrom, Karl K; Souto, Juan C JC; Peralta, Juan M JM; Smith, Todd T; Blangero, John J; Porter, Sandra S; Warren, Stephen T ST; Fontcuberta, Jordi J; Soria, Jose M JM; Flanders, W Dana WD; Almasy, Laura L; Howard, Tom E TE

Publication Date: 2007-05-01

Variant appearance in text: rs1800292

PubMed Link: 17209060

Variant Present in the following documents:

• Main text

View BVdb publication page

---