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. Wusthoff

Katherine 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/pages/publications/85128800644#tab=citedBy

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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