Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing

Peter H. Cygan; Sarah E. Arnold-Croop; Elizabeth A. Weidman; Fang Chen; Dajiang J. Liu; M. Elaine Eyster; Laura Carrel

doi:10.1016/j.thromres.2020.05.044

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing

Peter H. Cygan, Sarah E. Arnold-Croop, Elizabeth A. Weidman, Fang Chen, Dajiang J. Liu, M. Elaine Eyster, Laura Carrel

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	36-39
Number of pages	4
Journal	Thrombosis Research
Volume	193
DOIs	https://doi.org/10.1016/j.thromres.2020.05.044
State	Published - Sep 2020

All Science Journal Classification (ASJC) codes

Hematology

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10.1016/j.thromres.2020.05.044

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@article{409424ccbae445d2a985b18a0cf3b337,

title = "Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing",

author = "Cygan, {Peter H.} and Arnold-Croop, {Sarah E.} and Weidman, {Elizabeth A.} and Fang Chen and Liu, {Dajiang J.} and Eyster, {M. Elaine} and Laura Carrel",

note = "Funding Information: This work was supported in part by a Hemostasis and Thrombosis Research Society Mentored Research Award sponsored by Bioverativ (P.H.C.), Program Income for Research from HRSA grant H30MC24050 (P.H.C), and funds from the Livingston Trout & Mellinger Medical Research Fund , United States. We gratefully acknowledge technical assistance from Aldan Dye and Tracey Romanoski. Funding Information: This work was supported in part by a Hemostasis and Thrombosis Research Society Mentored Research Award sponsored by Bioverativ (P.H.C.), Program Income for Research from HRSA grant H30MC24050 (P.H.C), and funds from the Livingston Trout & Mellinger Medical Research Fund, United States. We gratefully acknowledge technical assistance from Aldan Dye and Tracey Romanoski. P.H.C designed the study, performed experiments, interpreted data and prepared the manuscript. S.E.AC designed and performed experiments. E.A.W performed experiments. F.C. and D.J.L performed exome sequence alignments. M.E.E. contributed to the study design, interpreted data and contributed to manuscript preparation. L.C. contributed to the study design, data interpretation and manuscript preparation. The authors state that they had no interests which might be perceived as posing a conflict or bias. M.E. Eyster has received research support from Bayer, Baxalta, Spark Therapeutics, Novo Nordisk, and Sanofi.",

year = "2020",

month = sep,

doi = "10.1016/j.thromres.2020.05.044",

language = "English (US)",

volume = "193",

pages = "36--39",

journal = "Thrombosis Research",

issn = "0049-3848",

publisher = "Elsevier Limited",

}

TY - JOUR

T1 - Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing

AU - Cygan, Peter H.

AU - Arnold-Croop, Sarah E.

AU - Weidman, Elizabeth A.

AU - Chen, Fang

AU - Liu, Dajiang J.

AU - Eyster, M. Elaine

AU - Carrel, Laura

N1 - Funding Information: This work was supported in part by a Hemostasis and Thrombosis Research Society Mentored Research Award sponsored by Bioverativ (P.H.C.), Program Income for Research from HRSA grant H30MC24050 (P.H.C), and funds from the Livingston Trout & Mellinger Medical Research Fund , United States. We gratefully acknowledge technical assistance from Aldan Dye and Tracey Romanoski. Funding Information: This work was supported in part by a Hemostasis and Thrombosis Research Society Mentored Research Award sponsored by Bioverativ (P.H.C.), Program Income for Research from HRSA grant H30MC24050 (P.H.C), and funds from the Livingston Trout & Mellinger Medical Research Fund, United States. We gratefully acknowledge technical assistance from Aldan Dye and Tracey Romanoski. P.H.C designed the study, performed experiments, interpreted data and prepared the manuscript. S.E.AC designed and performed experiments. E.A.W performed experiments. F.C. and D.J.L performed exome sequence alignments. M.E.E. contributed to the study design, interpreted data and contributed to manuscript preparation. L.C. contributed to the study design, data interpretation and manuscript preparation. The authors state that they had no interests which might be perceived as posing a conflict or bias. M.E. Eyster has received research support from Bayer, Baxalta, Spark Therapeutics, Novo Nordisk, and Sanofi.

PY - 2020/9

Y1 - 2020/9

UR - http://www.scopus.com/inward/record.url?scp=85085930168&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85085930168&partnerID=8YFLogxK

U2 - 10.1016/j.thromres.2020.05.044

DO - 10.1016/j.thromres.2020.05.044

M3 - Letter

C2 - 32521332

AN - SCOPUS:85085930168

SN - 0049-3848

VL - 193

SP - 36

EP - 39

JO - Thrombosis Research

JF - Thrombosis Research

ER -

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing

All Science Journal Classification (ASJC) codes

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