Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.

Matias Wagner; Riccardo Berutti; Bettina Lorenz-Depiereux; Elisabeth Graf; Gertrud Eckstein; Johannes A. Mayr; Thomas Meitinger; Uwe Ahting; Holger Prokisch; Tim M Strom; Saskia Wortmann

doi:10.1002/jimd.12109

Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.

Matias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, Elisabeth Graf, Gertrud Eckstein, Johannes A. Mayr (Co-author), Thomas Meitinger, Uwe Ahting, Holger Prokisch, Tim M Strom, Saskia Wortmann^* (Last author)

^*Corresponding author for this work

Department of Pediatrics

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

54 Citations (Web of Science)

Original language	English
Pages (from-to)	909-917
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	42
Issue number	5
DOIs	https://doi.org/10.1002/jimd.12109
Publication status	Published - 2019

Keywords

GENOME
IDENTIFY

Access to Document

10.1002/jimd.12109

Cite this

Wagner, M., Berutti, R., Lorenz-Depiereux, B., Graf, E., Eckstein, G., Mayr, J. A., Meitinger, T., Ahting, U., Prokisch, H., Strom, T. M., & Wortmann, S. (2019). Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. JOURNAL OF INHERITED METABOLIC DISEASE , 42(5), 909-917. https://doi.org/10.1002/jimd.12109

Wagner, Matias ; Berutti, Riccardo ; Lorenz-Depiereux, Bettina et al. / Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. In: JOURNAL OF INHERITED METABOLIC DISEASE 2019 ; Vol. 42, No. 5. pp. 909-917.

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title = "Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.",

keywords = "GENOME, IDENTIFY",

author = "Matias Wagner and Riccardo Berutti and Bettina Lorenz-Depiereux and Elisabeth Graf and Gertrud Eckstein and Mayr, {Johannes A.} and Thomas Meitinger and Uwe Ahting and Holger Prokisch and Strom, {Tim M} and Saskia Wortmann",

note = "Mayr, Wortmann: PMU, Univ Childrens Hosp, Salzburg, Austria",

year = "2019",

doi = "10.1002/jimd.12109",

language = "English",

volume = "42",

pages = "909--917",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

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Wagner, M, Berutti, R, Lorenz-Depiereux, B, Graf, E, Eckstein, G, Mayr, JA, Meitinger, T, Ahting, U, Prokisch, H, Strom, TM & Wortmann, S 2019, 'Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 42, no. 5, pp. 909-917. https://doi.org/10.1002/jimd.12109

Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. / Wagner, Matias; Berutti, Riccardo; Lorenz-Depiereux, Bettina et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 42, No. 5, 2019, p. 909-917.

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

TY - JOUR

T1 - Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.

AU - Wagner, Matias

AU - Berutti, Riccardo

AU - Lorenz-Depiereux, Bettina

AU - Graf, Elisabeth

AU - Eckstein, Gertrud

AU - Mayr, Johannes A.

AU - Meitinger, Thomas

AU - Ahting, Uwe

AU - Prokisch, Holger

AU - Strom, Tim M

AU - Wortmann, Saskia

N1 - Mayr, Wortmann: PMU, Univ Childrens Hosp, Salzburg, Austria

PY - 2019

Y1 - 2019

KW - GENOME

KW - IDENTIFY

U2 - 10.1002/jimd.12109

DO - 10.1002/jimd.12109

M3 - Original Article

C2 - 31059585

SN - 0141-8955

VL - 42

SP - 909

EP - 917

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 5

ER -

Wagner M, Berutti R, Lorenz-Depiereux B, Graf E, Eckstein G, Mayr JA et al. Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. JOURNAL OF INHERITED METABOLIC DISEASE . 2019;42(5):909-917. doi: 10.1002/jimd.12109