Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Vicente A Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H Smith; Charlotte L Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J Hayflick; Maja Hempel; Yulia S Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L Stenton; Tim M Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A. Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W Taylor; Saskia Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch

doi:10.1186/s13073-022-01019-9

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J Hayflick, Maja Hempel, Yulia S Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D KrylovaCostanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L Stenton, Tim M Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr (Co-author), Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W Taylor, Saskia Wortmann (Co-author), Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

Department of Pediatrics

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

75 Citations (Web of Science)

Original language	English
Pages (from-to)	38
Journal	GENOME MEDICINE
Volume	14
Issue number	1
DOIs	https://doi.org/10.1186/s13073-022-01019-9
Publication status	Published - 2022

Keywords

MUTATIONS CAUSE
MITOCHONDRIAL DISEASE
GENE-EXPRESSION
VARIANTS
DEFECT
COMPLEX
DEFICIENCY
GENOMICS
ONSET
CARDIOMYOPATHY

Access to Document

10.1186/s13073-022-01019-9

Cite this

Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T., ... Prokisch, H. (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. GENOME MEDICINE, 14(1), 38. https://doi.org/10.1186/s13073-022-01019-9

@article{dc01d753c8b94438bf4bb625c13d86e9,

title = "Clinical implementation of RNA sequencing for Mendelian disease diagnostics.",

keywords = "MUTATIONS CAUSE, MITOCHONDRIAL DISEASE, GENE-EXPRESSION, VARIANTS, DEFECT, COMPLEX, DEFICIENCY, GENOMICS, ONSET, CARDIOMYOPATHY",

author = "Y{\'e}pez, {Vicente A} and Mirjana Gusic and Robert Kopajtich and Christian Mertes and Smith, {Nicholas H} and Alston, {Charlotte L} and Rui Ban and Skadi Beblo and Riccardo Berutti and Holger Blessing and El{\.z}bieta Ciara and Felix Distelmaier and Peter Freisinger and Johannes H{\"a}berle and Hayflick, {Susan J} and Maja Hempel and Itkis, {Yulia S} and Yoshihito Kishita and Thomas Klopstock and Krylova, {Tatiana D} and Costanza Lamperti and Dominic Lenz and Christine Makowski and Signe Mosegaard and M{\"u}ller, {Michaela F} and Gerard Mu{\~n}oz-Pujol and Agnieszka Nadel and Akira Ohtake and Yasushi Okazaki and Elena Procopio and Thomas Schwarzmayr and Jo{\'e}l Smet and Christian Staufner and Stenton, {Sarah L} and Strom, {Tim M} and Caterina Terrile and Frederic Tort and {Van Coster}, Rudy and Arnaud Vanlander and Matias Wagner and Manting Xu and Fang Fang and Daniele Ghezzi and Mayr, {Johannes A.} and Dorota Piekutowska-Abramczuk and Antonia Ribes and Agn{\`e}s R{\"o}tig and Taylor, {Robert W} and Saskia Wortmann and Kei Murayama and Thomas Meitinger and Julien Gagneur and Holger Prokisch",

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

year = "2022",

doi = "10.1186/s13073-022-01019-9",

language = "English",

volume = "14",

pages = "38",

journal = "GENOME MEDICINE",

issn = "1756-994X",

number = "1",

}

Yépez, VA, Gusic, M, Kopajtich, R, Mertes, C, Smith, NH, Alston, CL, Ban, R, Beblo, S, Berutti, R, Blessing, H, Ciara, E, Distelmaier, F, Freisinger, P, Häberle, J, Hayflick, SJ, Hempel, M, Itkis, YS, Kishita, Y, Klopstock, T, Krylova, TD, Lamperti, C, Lenz, D, Makowski, C, Mosegaard, S, Müller, MF, Muñoz-Pujol, G, Nadel, A, Ohtake, A, Okazaki, Y, Procopio, E, Schwarzmayr, T, Smet, J, Staufner, C, Stenton, SL, Strom, TM, Terrile, C, Tort, F, Van Coster, R, Vanlander, A, Wagner, M, Xu, M, Fang, F, Ghezzi, D, Mayr, JA, Piekutowska-Abramczuk, D, Ribes, A, Rötig, A, Taylor, RW, Wortmann, S, Murayama, K, Meitinger, T, Gagneur, J & Prokisch, H 2022, 'Clinical implementation of RNA sequencing for Mendelian disease diagnostics.', GENOME MEDICINE, vol. 14, no. 1, pp. 38. https://doi.org/10.1186/s13073-022-01019-9

TY - JOUR

T1 - Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

AU - Yépez, Vicente A

AU - Gusic, Mirjana

AU - Kopajtich, Robert

AU - Mertes, Christian

AU - Smith, Nicholas H

AU - Alston, Charlotte L

AU - Ban, Rui

AU - Beblo, Skadi

AU - Berutti, Riccardo

AU - Blessing, Holger

AU - Ciara, Elżbieta

AU - Distelmaier, Felix

AU - Freisinger, Peter

AU - Häberle, Johannes

AU - Hayflick, Susan J

AU - Hempel, Maja

AU - Itkis, Yulia S

AU - Kishita, Yoshihito

AU - Klopstock, Thomas

AU - Krylova, Tatiana D

AU - Lamperti, Costanza

AU - Lenz, Dominic

AU - Makowski, Christine

AU - Mosegaard, Signe

AU - Müller, Michaela F

AU - Muñoz-Pujol, Gerard

AU - Nadel, Agnieszka

AU - Ohtake, Akira

AU - Okazaki, Yasushi

AU - Procopio, Elena

AU - Schwarzmayr, Thomas

AU - Smet, Joél

AU - Staufner, Christian

AU - Stenton, Sarah L

AU - Strom, Tim M

AU - Terrile, Caterina

AU - Tort, Frederic

AU - Van Coster, Rudy

AU - Vanlander, Arnaud

AU - Wagner, Matias

AU - Xu, Manting

AU - Fang, Fang

AU - Ghezzi, Daniele

AU - Mayr, Johannes A.

AU - Piekutowska-Abramczuk, Dorota

AU - Ribes, Antonia

AU - Rötig, Agnès

AU - Taylor, Robert W

AU - Wortmann, Saskia

AU - Murayama, Kei

AU - Meitinger, Thomas

AU - Gagneur, Julien

AU - Prokisch, Holger

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

PY - 2022

Y1 - 2022

KW - MUTATIONS CAUSE

KW - MITOCHONDRIAL DISEASE

KW - GENE-EXPRESSION

KW - VARIANTS

KW - DEFECT

KW - COMPLEX

KW - DEFICIENCY

KW - GENOMICS

KW - ONSET

KW - CARDIOMYOPATHY

U2 - 10.1186/s13073-022-01019-9

DO - 10.1186/s13073-022-01019-9

M3 - Original Article (Journal)

C2 - 35379322

SN - 1756-994X

VL - 14

SP - 38

JO - GENOME MEDICINE

JF - GENOME MEDICINE

IS - 1

ER -