Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock

John E. Gorzynski; Sneha D. Goenka; Kishwar Shafin; Tanner D. Jensen; Dianna G. Fisk; Megan E. Grove; Elizabeth Spiteri; Trevor Pesout; Jean Monlong; Jonathan A. Bernstein; Scott Ceresnak; Pi Chuan Chang; Jeffrey W. Christle; Henry Chubb; Kyla Dunn; Daniel R. Garalde; Joseph Guillory; Maura R.Z. Ruzhnikov; Chris Wright; Courtney J. Wusthoff; Katherine Xiong; Seth A. Hollander; Gerald J. Berry; Miten Jain; Fritz J. Sedlazeck; Andrew Carroll; Benedict Paten; Euan A. Ashley

doi:10.1161/CIRCGEN.121.003591

Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock

John E. Gorzynski, Sneha D. Goenka, Kishwar Shafin, Tanner D. Jensen, Dianna G. Fisk, Megan E. Grove, Elizabeth Spiteri, Trevor Pesout, Jean Monlong, Jonathan A. Bernstein, Scott Ceresnak, Pi Chuan Chang, Jeffrey W. Christle, Henry Chubb, Kyla Dunn, Daniel R. Garalde, Joseph Guillory, Maura R.Z. Ruzhnikov, Chris Wright, Courtney J. WusthoffKatherine Xiong, Seth A. Hollander, Gerald J. Berry, Miten Jain, Fritz J. Sedlazeck, Andrew Carroll, Benedict Paten, Euan A. Ashley

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

3 Scopus citations

Original language	English (US)
Pages (from-to)	E003591
Journal	Circulation: Cardiovascular Genetics
Volume	15
Issue number	2
DOIs	https://doi.org/10.1161/CIRCGEN.121.003591
State	Published - Apr 1 2022
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Cardiology and Cardiovascular Medicine
Genetics(clinical)

Keywords

cardiomyopathy
diagnosis
dilated
genome
genomics
sequence analysis, DNA

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10.1161/CIRCGEN.121.003591

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Gorzynski, J. E., Goenka, S. D., Shafin, K., Jensen, T. D., Fisk, D. G., Grove, M. E., Spiteri, E., Pesout, T., Monlong, J., Bernstein, J. A., Ceresnak, S., Chang, P. C., Christle, J. W., Chubb, H., Dunn, K., Garalde, D. R., Guillory, J., Ruzhnikov, M. R. Z., Wright, C., ... Ashley, E. A. (2022). Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock. Circulation: Cardiovascular Genetics, 15(2), E003591. https://doi.org/10.1161/CIRCGEN.121.003591

@article{6b5494d6422449e3b8e241511e52174f,

title = "Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock",

keywords = "cardiomyopathy, diagnosis, dilated, genome, genomics, sequence analysis, DNA",

author = "Gorzynski, \{John E.\} and Goenka, \{Sneha D.\} and Kishwar Shafin and Jensen, \{Tanner D.\} and Fisk, \{Dianna G.\} and Grove, \{Megan E.\} and Elizabeth Spiteri and Trevor Pesout and Jean Monlong and Bernstein, \{Jonathan A.\} and Scott Ceresnak and Chang, \{Pi Chuan\} and Christle, \{Jeffrey W.\} and Henry Chubb and Kyla Dunn and Garalde, \{Daniel R.\} and Joseph Guillory and Ruzhnikov, \{Maura R.Z.\} and Chris Wright and Wusthoff, \{Courtney J.\} and Katherine Xiong and Hollander, \{Seth A.\} and Berry, \{Gerald J.\} and Miten Jain and Sedlazeck, \{Fritz J.\} and Andrew Carroll and Benedict Paten and Ashley, \{Euan A.\}",

year = "2022",

month = apr,

day = "1",

doi = "10.1161/CIRCGEN.121.003591",

language = "English (US)",

volume = "15",

pages = "E003591",

journal = "Circulation: Cardiovascular Genetics",

issn = "1942-325X",

publisher = "Lippincott Williams and Wilkins Ltd.",

number = "2",

}

Gorzynski, JE, Goenka, SD, Shafin, K, Jensen, TD, Fisk, DG, Grove, ME, Spiteri, E, Pesout, T, Monlong, J, Bernstein, JA, Ceresnak, S, Chang, PC, Christle, JW, Chubb, H, Dunn, K, Garalde, DR, Guillory, J, Ruzhnikov, MRZ, Wright, C, Wusthoff, CJ, Xiong, K, Hollander, SA, Berry, GJ, Jain, M, Sedlazeck, FJ, Carroll, A, Paten, B & Ashley, EA 2022, 'Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock', Circulation: Cardiovascular Genetics, vol. 15, no. 2, pp. E003591. https://doi.org/10.1161/CIRCGEN.121.003591

TY - JOUR

T1 - Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock

AU - Gorzynski, John E.

AU - Goenka, Sneha D.

AU - Shafin, Kishwar

AU - Jensen, Tanner D.

AU - Fisk, Dianna G.

AU - Grove, Megan E.

AU - Spiteri, Elizabeth

AU - Pesout, Trevor

AU - Monlong, Jean

AU - Bernstein, Jonathan A.

AU - Ceresnak, Scott

AU - Chang, Pi Chuan

AU - Christle, Jeffrey W.

AU - Chubb, Henry

AU - Dunn, Kyla

AU - Garalde, Daniel R.

AU - Guillory, Joseph

AU - Ruzhnikov, Maura R.Z.

AU - Wright, Chris

AU - Wusthoff, Courtney J.

AU - Xiong, Katherine

AU - Hollander, Seth A.

AU - Berry, Gerald J.

AU - Jain, Miten

AU - Sedlazeck, Fritz J.

AU - Carroll, Andrew

AU - Paten, Benedict

AU - Ashley, Euan A.

PY - 2022/4/1

Y1 - 2022/4/1

KW - cardiomyopathy

KW - diagnosis

KW - dilated

KW - genome

KW - genomics

KW - sequence analysis, DNA

UR - https://www.scopus.com/pages/publications/85128800644

UR - https://www.scopus.com/inward/citedby.url?scp=85128800644&partnerID=8YFLogxK

U2 - 10.1161/CIRCGEN.121.003591

DO - 10.1161/CIRCGEN.121.003591

M3 - Letter

C2 - 35133172

AN - SCOPUS:85128800644

SN - 1942-325X

VL - 15

SP - E003591

JO - Circulation: Cardiovascular Genetics

JF - Circulation: Cardiovascular Genetics

IS - 2

ER -

Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock

All Science Journal Classification (ASJC) codes

Keywords

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