How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Saskia Wortmann; Machteld M Oud; Mariëlle Alders; Karlien L M Coene; Saskia N van der Crabben; René Feichtinger; Alejandro Garanto; Alex Hoischen; Mirjam Langeveld; Dirk Lefeber; Johannes A. Mayr; Charlotte W Ockeloen; Holger Prokisch; Richard Rodenburg; Hans R Waterham; Ron A Wevers; Bart P C van de Warrenburg; Michel A A P Willemsen; Nicole I Wolf; Lisenka E L M Vissers; Clara D M van Karnebeek

doi:10.1002/jimd.12507

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Saskia Wortmann^* (First author), Machteld M Oud, Mariëlle Alders, Karlien L M Coene, Saskia N van der Crabben, René Feichtinger (Co-author), Alejandro Garanto, Alex Hoischen, Mirjam Langeveld, Dirk Lefeber, Johannes A. Mayr (Co-author), Charlotte W Ockeloen, Holger Prokisch, Richard Rodenburg, Hans R Waterham, Ron A Wevers, Bart P C van de Warrenburg, Michel A A P Willemsen, Nicole I Wolf, Lisenka E L M VissersClara D M van Karnebeek

^*Corresponding author for this work

Department of Pediatrics

Research output: Contribution to journal › Review article › peer-review

19 Citations (Web of Science)

Original language	English
Pages (from-to)	663-681
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	45
Issue number	4
DOIs	https://doi.org/10.1002/jimd.12507
Publication status	Published - 2022

Keywords

SPINAL MUSCULAR-ATROPHY
DE-NOVO
SOMATIC MOSAICISM
3-METHYLGLUTACONIC ACIDURIA
MITOCHONDRIAL DISEASE
DNA METHYLATION
OPEN-LABEL
MUTATIONS
DEFICIENCY
VARIANTS

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10.1002/jimd.12507

Cite this

Wortmann, S., Oud, M. M., Alders, M., Coene, K. L. M., van der Crabben, S. N., Feichtinger, R., Garanto, A., Hoischen, A., Langeveld, M., Lefeber, D., Mayr, J. A., Ockeloen, C. W., Prokisch, H., Rodenburg, R., Waterham, H. R., Wevers, R. A., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., Wolf, N. I., ... van Karnebeek, C. D. M. (2022). How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. JOURNAL OF INHERITED METABOLIC DISEASE , 45(4), 663-681. https://doi.org/10.1002/jimd.12507

Wortmann, Saskia ; Oud, Machteld M ; Alders, Mariëlle et al. / How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. In: JOURNAL OF INHERITED METABOLIC DISEASE 2022 ; Vol. 45, No. 4. pp. 663-681.

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title = "How to proceed after {"}negative{"} exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.",

keywords = "SPINAL MUSCULAR-ATROPHY, DE-NOVO, SOMATIC MOSAICISM, 3-METHYLGLUTACONIC ACIDURIA, MITOCHONDRIAL DISEASE, DNA METHYLATION, OPEN-LABEL, MUTATIONS, DEFICIENCY, VARIANTS",

author = "Saskia Wortmann and Oud, {Machteld M} and Mari{\"e}lle Alders and Coene, {Karlien L M} and {van der Crabben}, {Saskia N} and Ren{\'e} Feichtinger and Alejandro Garanto and Alex Hoischen and Mirjam Langeveld and Dirk Lefeber and Mayr, {Johannes A.} and Ockeloen, {Charlotte W} and Holger Prokisch and Richard Rodenburg and Waterham, {Hans R} and Wevers, {Ron A} and {van de Warrenburg}, {Bart P C} and Willemsen, {Michel A A P} and Wolf, {Nicole I} and Vissers, {Lisenka E L M} and {van Karnebeek}, {Clara D M}",

note = "Wortmann, Feichtinger, Mayr: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.",

year = "2022",

doi = "10.1002/jimd.12507",

language = "English",

volume = "45",

pages = "663--681",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

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Wortmann, S, Oud, MM, Alders, M, Coene, KLM, van der Crabben, SN, Feichtinger, R, Garanto, A, Hoischen, A, Langeveld, M, Lefeber, D, Mayr, JA, Ockeloen, CW, Prokisch, H, Rodenburg, R, Waterham, HR, Wevers, RA, van de Warrenburg, BPC, Willemsen, MAAP, Wolf, NI, Vissers, LELM & van Karnebeek, CDM 2022, 'How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 45, no. 4, pp. 663-681. https://doi.org/10.1002/jimd.12507

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. / Wortmann, Saskia (First author); Oud, Machteld M; Alders, Mariëlle et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 45, No. 4, 2022, p. 663-681.

Research output: Contribution to journal › Review article › peer-review

TY - JOUR

T1 - How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

AU - Wortmann, Saskia

AU - Oud, Machteld M

AU - Alders, Mariëlle

AU - Coene, Karlien L M

AU - van der Crabben, Saskia N

AU - Feichtinger, René

AU - Garanto, Alejandro

AU - Hoischen, Alex

AU - Langeveld, Mirjam

AU - Lefeber, Dirk

AU - Mayr, Johannes A.

AU - Ockeloen, Charlotte W

AU - Prokisch, Holger

AU - Rodenburg, Richard

AU - Waterham, Hans R

AU - Wevers, Ron A

AU - van de Warrenburg, Bart P C

AU - Willemsen, Michel A A P

AU - Wolf, Nicole I

AU - Vissers, Lisenka E L M

AU - van Karnebeek, Clara D M

N1 - Wortmann, Feichtinger, Mayr: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.

PY - 2022

Y1 - 2022

KW - SPINAL MUSCULAR-ATROPHY

KW - DE-NOVO

KW - SOMATIC MOSAICISM

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - MITOCHONDRIAL DISEASE

KW - DNA METHYLATION

KW - OPEN-LABEL

KW - MUTATIONS

KW - DEFICIENCY

KW - VARIANTS

U2 - 10.1002/jimd.12507

DO - 10.1002/jimd.12507

M3 - Review article

C2 - 35506430

SN - 0141-8955

VL - 45

SP - 663

EP - 681

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 4

ER -

Wortmann S, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger R et al. How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. JOURNAL OF INHERITED METABOLIC DISEASE . 2022;45(4):663-681. doi: 10.1002/jimd.12507