Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Saskia Wortmann; David A Koolen; Jan A Smeitink; Lambert van den Heuvel; Richard J Rodenburg

doi:10.1007/s10545-015-9823-y

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Saskia Wortmann (First author)
, David A Koolen
, Jan A Smeitink
, Lambert van den Heuvel
, Richard J Rodenburg

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

176 Citations (Web of Science)

Original language	English
Pages (from-to)	437-443
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	38
Issue number	3
DOIs	https://doi.org/10.1007/s10545-015-9823-y
Publication status	Published - 2015

Keywords

SEVERE INTELLECTUAL DISABILITY
COMPLEX I DEFICIENCY
CANDIDATE GENE
DISEASE
DISORDERS
DIAGNOSIS
CARDIOMYOPATHY
HETEROGENEITY
SUBSTITUTIONS
GENERATION

Access to Document

10.1007/s10545-015-9823-y

Cite this

Wortmann, S., Koolen, D. A., Smeitink, J. A., van den Heuvel, L., & Rodenburg, R. J. (2015). Whole exome sequencing of suspected mitochondrial patients in clinical practice. JOURNAL OF INHERITED METABOLIC DISEASE , 38(3), 437-443. https://doi.org/10.1007/s10545-015-9823-y

Wortmann, Saskia ; Koolen, David A ; Smeitink, Jan A et al. / Whole exome sequencing of suspected mitochondrial patients in clinical practice. In: JOURNAL OF INHERITED METABOLIC DISEASE 2015 ; Vol. 38, No. 3. pp. 437-443.

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title = "Whole exome sequencing of suspected mitochondrial patients in clinical practice.",

keywords = "SEVERE INTELLECTUAL DISABILITY, COMPLEX I DEFICIENCY, CANDIDATE GENE, DISEASE, DISORDERS, DIAGNOSIS, CARDIOMYOPATHY, HETEROGENEITY, SUBSTITUTIONS, GENERATION",

author = "Saskia Wortmann and Koolen, \{David A\} and Smeitink, \{Jan A\} and \{van den Heuvel\}, Lambert and Rodenburg, \{Richard J\}",

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doi = "10.1007/s10545-015-9823-y",

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volume = "38",

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}

Wortmann, S, Koolen, DA, Smeitink, JA, van den Heuvel, L & Rodenburg, RJ 2015, 'Whole exome sequencing of suspected mitochondrial patients in clinical practice.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 38, no. 3, pp. 437-443. https://doi.org/10.1007/s10545-015-9823-y

Whole exome sequencing of suspected mitochondrial patients in clinical practice. / Wortmann, Saskia (First author); Koolen, David A; Smeitink, Jan A et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 38, No. 3, 2015, p. 437-443.

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

TY - JOUR

T1 - Whole exome sequencing of suspected mitochondrial patients in clinical practice.

AU - Wortmann, Saskia

AU - Koolen, David A

AU - Smeitink, Jan A

AU - van den Heuvel, Lambert

AU - Rodenburg, Richard J

PY - 2015

Y1 - 2015

KW - SEVERE INTELLECTUAL DISABILITY

KW - COMPLEX I DEFICIENCY

KW - CANDIDATE GENE

KW - DISEASE

KW - DISORDERS

KW - DIAGNOSIS

KW - CARDIOMYOPATHY

KW - HETEROGENEITY

KW - SUBSTITUTIONS

KW - GENERATION

U2 - 10.1007/s10545-015-9823-y

DO - 10.1007/s10545-015-9823-y

M3 - Original Article

C2 - 25735936

SN - 0141-8955

VL - 38

SP - 437

EP - 443

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

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ER -

Wortmann S, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. JOURNAL OF INHERITED METABOLIC DISEASE . 2015;38(3):437-443. doi: 10.1007/s10545-015-9823-y