Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen; Minh Nguyen; Rick Kamps; Alexandra T. Hendrickx; Suzanne C. E. H. Sallevelt; Ralph W. H. Gottschalk; Chantal M. Calis; Alphons P. M. Stassen; Bart de Koning; Elvira N. M. Mulder-Den Hartog; Kees Schoonderwoerd; Sabine A. Fuchs; Yvonne Hilhorst-Hofstee; Marianne de Visser; Jo Vanoevelen; Radek Szklarczyk; Mike Gerards; Irenaeus F. M. de Coo; Debby M. E. Hellebrekers; Hubert J. M. Smeets

doi:10.3389/fgene.2018.00400

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. Hellebrekers, Hubert J. M. Smeets^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Article number	400
Number of pages	17
Journal	Frontiers in Genetics
Volume	9
DOIs	https://doi.org/10.3389/fgene.2018.00400
Publication status	Published - 12 Oct 2018

Keywords

mitochondrial disease
next-generation sequencing
mtDNA sequencing
whole-exome sequencing
diagnostic yield
TRANSFER-RNA-SYNTHETASE
HUMAN COMPLEX-I
LEIGH-SYNDROME
MOLECULAR DIAGNOSIS
ASSEMBLY FACTORS
LACTIC-ACIDOSIS
DNA DELETIONS
MUTATIONS
DISEASE
DISORDERS

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10.3389/fgene.2018.00400

Cite this

Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E., & Smeets, H. J. M. (2018). Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. Frontiers in Genetics, 9, [400]. https://doi.org/10.3389/fgene.2018.00400

Theunissen, Tom E. J. ; Nguyen, Minh ; Kamps, Rick ; Hendrickx, Alexandra T. ; Sallevelt, Suzanne C. E. H. ; Gottschalk, Ralph W. H. ; Calis, Chantal M. ; Stassen, Alphons P. M. ; de Koning, Bart ; Mulder-Den Hartog, Elvira N. M. ; Schoonderwoerd, Kees ; Fuchs, Sabine A. ; Hilhorst-Hofstee, Yvonne ; de Visser, Marianne ; Vanoevelen, Jo ; Szklarczyk, Radek ; Gerards, Mike ; de Coo, Irenaeus F. M. ; Hellebrekers, Debby M. E. ; Smeets, Hubert J. M. / Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. In: Frontiers in Genetics. 2018 ; Vol. 9.

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title = "Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause",

keywords = "mitochondrial disease, next-generation sequencing, mtDNA sequencing, whole-exome sequencing, diagnostic yield, TRANSFER-RNA-SYNTHETASE, HUMAN COMPLEX-I, LEIGH-SYNDROME, MOLECULAR DIAGNOSIS, ASSEMBLY FACTORS, LACTIC-ACIDOSIS, DNA DELETIONS, MUTATIONS, DISEASE, DISORDERS",

author = "Theunissen, {Tom E. J.} and Minh Nguyen and Rick Kamps and Hendrickx, {Alexandra T.} and Sallevelt, {Suzanne C. E. H.} and Gottschalk, {Ralph W. H.} and Calis, {Chantal M.} and Stassen, {Alphons P. M.} and {de Koning}, Bart and {Mulder-Den Hartog}, {Elvira N. M.} and Kees Schoonderwoerd and Fuchs, {Sabine A.} and Yvonne Hilhorst-Hofstee and {de Visser}, Marianne and Jo Vanoevelen and Radek Szklarczyk and Mike Gerards and {de Coo}, {Irenaeus F. M.} and Hellebrekers, {Debby M. E.} and Smeets, {Hubert J. M.}",

year = "2018",

month = oct,

day = "12",

doi = "10.3389/fgene.2018.00400",

language = "English",

volume = "9",

journal = "Frontiers in Genetics",

issn = "1664-8021",

publisher = "Frontiers Media S.A.",

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Theunissen, TEJ, Nguyen, M, Kamps, R , Hendrickx, AT , Sallevelt, SCEH, Gottschalk, RWH, Calis, CM, Stassen, APM , de Koning, B, Mulder-Den Hartog, ENM, Schoonderwoerd, K, Fuchs, SA, Hilhorst-Hofstee, Y, de Visser, M, Vanoevelen, J , Szklarczyk, R , Gerards, M , de Coo, IFM , Hellebrekers, DME & Smeets, HJM 2018, 'Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause', Frontiers in Genetics, vol. 9, 400. https://doi.org/10.3389/fgene.2018.00400

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. / Theunissen, Tom E. J.; Nguyen, Minh; Kamps, Rick ; Hendrickx, Alexandra T.; Sallevelt, Suzanne C. E. H.; Gottschalk, Ralph W. H.; Calis, Chantal M.; Stassen, Alphons P. M.; de Koning, Bart; Mulder-Den Hartog, Elvira N. M.; Schoonderwoerd, Kees; Fuchs, Sabine A.; Hilhorst-Hofstee, Yvonne; de Visser, Marianne; Vanoevelen, Jo ; Szklarczyk, Radek ; Gerards, Mike ; de Coo, Irenaeus F. M.; Hellebrekers, Debby M. E.; Smeets, Hubert J. M.

In: Frontiers in Genetics, Vol. 9, 400, 12.10.2018.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

AU - Theunissen, Tom E. J.

AU - Nguyen, Minh

AU - Kamps, Rick

AU - Hendrickx, Alexandra T.

AU - Sallevelt, Suzanne C. E. H.

AU - Gottschalk, Ralph W. H.

AU - Calis, Chantal M.

AU - Stassen, Alphons P. M.

AU - de Koning, Bart

AU - Mulder-Den Hartog, Elvira N. M.

AU - Schoonderwoerd, Kees

AU - Fuchs, Sabine A.

AU - Hilhorst-Hofstee, Yvonne

AU - de Visser, Marianne

AU - Vanoevelen, Jo

AU - Szklarczyk, Radek

AU - Gerards, Mike

AU - de Coo, Irenaeus F. M.

AU - Hellebrekers, Debby M. E.

AU - Smeets, Hubert J. M.

PY - 2018/10/12

Y1 - 2018/10/12

KW - mitochondrial disease

KW - next-generation sequencing

KW - mtDNA sequencing

KW - whole-exome sequencing

KW - diagnostic yield

KW - TRANSFER-RNA-SYNTHETASE

KW - HUMAN COMPLEX-I

KW - LEIGH-SYNDROME

KW - MOLECULAR DIAGNOSIS

KW - ASSEMBLY FACTORS

KW - LACTIC-ACIDOSIS

KW - DNA DELETIONS

KW - MUTATIONS

KW - DISEASE

KW - DISORDERS

U2 - 10.3389/fgene.2018.00400

DO - 10.3389/fgene.2018.00400

M3 - Article

VL - 9

JO - Frontiers in Genetics

JF - Frontiers in Genetics

SN - 1664-8021

M1 - 400

ER -