Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: F8: 6089G>A; Ser2030Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T

Publication Date: 2022-09-01

Variant appearance in text: F8: 6089G>A; Ser2030Asn

PubMed Link: 36007526

Variant Present in the following documents:

• mmc2.xlsx, sheet 7

View BVdb publication page

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Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.

Hgg Advances

Gold, Nina B NB; Harrison, Steven M SM; Rowe, Jared H JH; Gold, Jessica J; Furutani, Elissa E; Biffi, Alessandra A; Duncan, Christine N CN; Shimamura, Akiko A; Lehmann, Leslie E LE; Green, Robert C RC

Publication Date: 2022-01-13

Variant appearance in text: F8: 6089G>A; Ser2030Asn

PubMed Link: 35047849

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

American Journal Of Human Genetics

Lombardi, Silvia S; Leo, Gabriele G; Merlin, Simone S; Follenzi, Antonia A; McVey, John H JH; Maestri, Iva I; Bernardi, Francesco F; Pinotti, Mirko M; Balestra, Dario D

Publication Date: 2021-08-05

Variant appearance in text: FVIII: 6089G>A

PubMed Link: 34242570

Variant Present in the following documents:

• Main text

View BVdb publication page

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The odds and implications of coinheritance of hemophilia A and B.

Research And Practice In Thrombosis And Haemostasis

Karch, Corinne C; Masser-Frye, Diane D; Limjoco, Jacqueline J; Ryan, Sarah E SE; Fletcher, Shelley N SN; Corbett, Kevin D KD; Johnsen, Jill M JM; Thornburg, Courtney D CD

Publication Date: 2020-07

Variant appearance in text: F8: 6089G>A

PubMed Link: 32685904

Variant Present in the following documents:

• Main text
• RTH2-4-931.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: S2030N

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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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: F8: S2030N

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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: S2030N

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: S2030N

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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Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

European Journal Of Human Genetics : Ejhg

Lannoy, Nathalie N; Grisart, Bernard B; Eeckhoudt, Stéphane S; Verellen-Dumoulin, Christine C; Lambert, Catherine C; Vikkula, Miikka M; Hermans, Cédric C

Publication Date: 2013-09

Variant appearance in text: F8: 6089G>A

PubMed Link: 23299923

Variant Present in the following documents:

• Main text

View BVdb publication page

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