The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology

LD Schlieben; D Lenz; M Shimura; A Bianzano; D Smirnov; R Kopajtich; R Adam; GF Vogel; I Baric; P Bufler; B Burnyte; PL Calvo; E Crushell; AM Das; F Distelmaier; P Freisinger; N Hadzic; S Hartleif; M Hempel; A Kansu; S Kaspar; D Kelly; B Knoppke; V Konstantopoulou; T Krylova; K Alice; E Lainka; E Lurz; H Mandel; P McKiernan; D Piekutowska-Abramczuk; A Rötig; R Santer; R Taylor; S Wortmann; J Vockley; S Kölker; GF Hoffmann; T Meitinger; K Murayama; C Staufner; H Prokisch

The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology

LD Schlieben, D Lenz, M Shimura, A Bianzano, D Smirnov, R Kopajtich, R Adam, GF Vogel, I Baric, P Bufler, B Burnyte, PL Calvo, E Crushell, AM Das, F Distelmaier, P Freisinger, N Hadzic, S Hartleif, M Hempel, A KansuS Kaspar, D Kelly, B Knoppke, V Konstantopoulou, T Krylova, K Alice, E Lainka, E Lurz, H Mandel, P McKiernan, D Piekutowska-Abramczuk, A Rötig, R Santer, R Taylor, S Wortmann, J Vockley, S Kölker, GF Hoffmann, T Meitinger, K Murayama, C Staufner, H Prokisch

Department of Pediatrics

Research output: Contribution to journal › published Abstract (Journal) › peer-review

Original language	English
Pages (from-to)	32-33
Number of pages	2
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	31
Issue number	55th European-Society-of-Human-Genetics (ESHG) Conference
Publication status	Published - 11 May 2023
Event	55th European-Society-of-Human-Genetics (ESHG) Conference - Vienna, Austria Duration: 11 Jun 2023 → 14 Jun 2023

Cite this

Schlieben, LD., Lenz, D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Adam, R., Vogel, GF., Baric, I., Bufler, P., Burnyte, B., Calvo, PL., Crushell, E., Das, AM., Distelmaier, F., Freisinger, P., Hadzic, N., Hartleif, S., Hempel, M., ... Prokisch, H. (2023). The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology. EUROPEAN JOURNAL OF HUMAN GENETICS , 31(55th European-Society-of-Human-Genetics (ESHG) Conference), 32-33.

Schlieben, LD ; Lenz, D ; Shimura, M et al. / The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2023 ; Vol. 31, No. 55th European-Society-of-Human-Genetics (ESHG) Conference. pp. 32-33.

@article{798d5ce9b238465eb91efb367543c90f,

title = "The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology",

author = "LD Schlieben and D Lenz and M Shimura and A Bianzano and D Smirnov and R Kopajtich and R Adam and GF Vogel and I Baric and P Bufler and B Burnyte and PL Calvo and E Crushell and AM Das and F Distelmaier and P Freisinger and N Hadzic and S Hartleif and M Hempel and A Kansu and S Kaspar and D Kelly and B Knoppke and V Konstantopoulou and T Krylova and K Alice and E Lainka and E Lurz and H Mandel and P McKiernan and D Piekutowska-Abramczuk and A R{\"o}tig and R Santer and R Taylor and S Wortmann and J Vockley and S K{\"o}lker and GF Hoffmann and T Meitinger and K Murayama and C Staufner and H Prokisch",

year = "2023",

month = may,

day = "11",

language = "English",

volume = "31",

pages = "32--33",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

number = "55th European-Society-of-Human-Genetics (ESHG) Conference",

note = "55th European-Society-of-Human-Genetics (ESHG) Conference ; Conference date: 11-06-2023 Through 14-06-2023",

}

Schlieben, LD, Lenz, D, Shimura, M, Bianzano, A, Smirnov, D, Kopajtich, R, Adam, R, Vogel, GF, Baric, I, Bufler, P, Burnyte, B, Calvo, PL, Crushell, E, Das, AM, Distelmaier, F, Freisinger, P, Hadzic, N, Hartleif, S, Hempel, M, Kansu, A, Kaspar, S, Kelly, D, Knoppke, B, Konstantopoulou, V, Krylova, T, Alice, K, Lainka, E, Lurz, E, Mandel, H, McKiernan, P, Piekutowska-Abramczuk, D, Rötig, A, Santer, R, Taylor, R, Wortmann, S, Vockley, J, Kölker, S, Hoffmann, GF, Meitinger, T, Murayama, K, Staufner, C & Prokisch, H 2023, 'The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 31, no. 55th European-Society-of-Human-Genetics (ESHG) Conference, pp. 32-33.

The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology. / Schlieben, LD; Lenz, D; Shimura, M et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 31, No. 55th European-Society-of-Human-Genetics (ESHG) Conference, 11.05.2023, p. 32-33.

Research output: Contribution to journal › published Abstract (Journal) › peer-review

TY - JOUR

T1 - The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology

AU - Schlieben, LD

AU - Lenz, D

AU - Shimura, M

AU - Bianzano, A

AU - Smirnov, D

AU - Kopajtich, R

AU - Adam, R

AU - Vogel, GF

AU - Baric, I

AU - Bufler, P

AU - Burnyte, B

AU - Calvo, PL

AU - Crushell, E

AU - Das, AM

AU - Distelmaier, F

AU - Freisinger, P

AU - Hadzic, N

AU - Hartleif, S

AU - Hempel, M

AU - Kansu, A

AU - Kaspar, S

AU - Kelly, D

AU - Knoppke, B

AU - Konstantopoulou, V

AU - Krylova, T

AU - Alice, K

AU - Lainka, E

AU - Lurz, E

AU - Mandel, H

AU - McKiernan, P

AU - Piekutowska-Abramczuk, D

AU - Rötig, A

AU - Santer, R

AU - Taylor, R

AU - Wortmann, S

AU - Vockley, J

AU - Kölker, S

AU - Hoffmann, GF

AU - Meitinger, T

AU - Murayama, K

AU - Staufner, C

AU - Prokisch, H

PY - 2023/5/11

Y1 - 2023/5/11

M3 - published Abstract (Journal)

SN - 1018-4813

VL - 31

SP - 32

EP - 33

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - 55th European-Society-of-Human-Genetics (ESHG) Conference

T2 - 55th European-Society-of-Human-Genetics (ESHG) Conference

Y2 - 11 June 2023 through 14 June 2023

ER -

Schlieben LD, Lenz D, Shimura M, Bianzano A, Smirnov D, Kopajtich R et al. The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology. EUROPEAN JOURNAL OF HUMAN GENETICS . 2023 May 11;31(55th European-Society-of-Human-Genetics (ESHG) Conference):32-33.