Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Christian Staufner; Bianca Peters; Matias Wagner; Seham Alameer; Ivo Barić; Pierre Broué; Derya Bulut; Joseph A Church; Ellen Crushell; Buket Dalgıç; Anibh M Das; Anke Dick; Nicola Dikow; Carlo Dionisi-Vici; Felix Distelmaier; Neslihan Ekşi Bozbulut; François Feillet; Emmanuel Gonzales; Nedim Hadzic; Fabian Hauck; Robert Hegarty; Maja Hempel; Theresia Herget; Christoph Klein; Vassiliki Konstantopoulou; Robert Kopajtich; Alice Kuster; Martin W Laass; Elke Lainka; Catherine Larson-Nath; Alexander Leibner; Eberhard Lurz; Johannes A. Mayr; Patrick McKiernan; Karine Mention; Ute Moog; Neslihan Onenli Mungan; Korbinian M Riedhammer; René Santer; Irene Valenzuela Palafoll; Jerry Vockley; Dominik S Westphal; Arnaud Wiedemann; Saskia Wortmann; Gaurav D Diwan; Robert B Russell; Holger Prokisch; Sven F Garbade; Stefan Kölker; Georg F Hoffmann; Dominic Lenz

doi:10.1038/s41436-019-0698-4

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Derya Bulut, Joseph A Church, Ellen Crushell, Buket Dalgıç, Anibh M Das, Anke Dick, Nicola Dikow, Carlo Dionisi-Vici, Felix Distelmaier, Neslihan Ekşi Bozbulut, François Feillet, Emmanuel Gonzales, Nedim Hadzic, Fabian HauckRobert Hegarty, Maja Hempel, Theresia Herget, Christoph Klein, Vassiliki Konstantopoulou, Robert Kopajtich, Alice Kuster, Martin W Laass, Elke Lainka, Catherine Larson-Nath, Alexander Leibner, Eberhard Lurz, Johannes A. Mayr (Co-author), Patrick McKiernan, Karine Mention, Ute Moog, Neslihan Onenli Mungan, Korbinian M Riedhammer, René Santer, Irene Valenzuela Palafoll, Jerry Vockley, Dominik S Westphal, Arnaud Wiedemann, Saskia Wortmann (Co-author), Gaurav D Diwan, Robert B Russell, Holger Prokisch, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Dominic Lenz

Department of Pediatrics

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

47 Citations (Web of Science)

Original language	English
Pages (from-to)	610-621
Journal	GENETICS IN MEDICINE
Volume	22
Issue number	3
DOIs	https://doi.org/10.1038/s41436-019-0698-4
Publication status	Published - 2020

Keywords

ACUTE LIVER-FAILURE
AMPLIFIED SEQUENCE GENE
SOPH SYNDROME
MUTATIONS
DEFICIENCY
PREDICTION
DISORDERS
SECONDARY
VARIANTS
ONSET

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10.1038/s41436-019-0698-4

Cite this

Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., ... Lenz, D. (2020). Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. GENETICS IN MEDICINE , 22(3), 610-621. https://doi.org/10.1038/s41436-019-0698-4

Staufner, Christian ; Peters, Bianca ; Wagner, Matias et al. / Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. In: GENETICS IN MEDICINE 2020 ; Vol. 22, No. 3. pp. 610-621.

@article{3d95e5044aa04376a406354e9db739bf,

title = "Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.",

keywords = "ACUTE LIVER-FAILURE, AMPLIFIED SEQUENCE GENE, SOPH SYNDROME, MUTATIONS, DEFICIENCY, PREDICTION, DISORDERS, SECONDARY, VARIANTS, ONSET",

author = "Christian Staufner and Bianca Peters and Matias Wagner and Seham Alameer and Ivo Bari{\'c} and Pierre Brou{\'e} and Derya Bulut and Church, {Joseph A} and Ellen Crushell and Buket Dalgı{\c c} and Das, {Anibh M} and Anke Dick and Nicola Dikow and Carlo Dionisi-Vici and Felix Distelmaier and Bozbulut, {Neslihan Ek{\c s}i} and Fran{\c c}ois Feillet and Emmanuel Gonzales and Nedim Hadzic and Fabian Hauck and Robert Hegarty and Maja Hempel and Theresia Herget and Christoph Klein and Vassiliki Konstantopoulou and Robert Kopajtich and Alice Kuster and Laass, {Martin W} and Elke Lainka and Catherine Larson-Nath and Alexander Leibner and Eberhard Lurz and Mayr, {Johannes A.} and Patrick McKiernan and Karine Mention and Ute Moog and Mungan, {Neslihan Onenli} and Riedhammer, {Korbinian M} and Ren{\'e} Santer and Palafoll, {Irene Valenzuela} and Jerry Vockley and Westphal, {Dominik S} and Arnaud Wiedemann and Saskia Wortmann and Diwan, {Gaurav D} and Russell, {Robert B} and Holger Prokisch and Garbade, {Sven F} and Stefan K{\"o}lker and Hoffmann, {Georg F} and Dominic Lenz",

note = "Wortmann; Mayr, JA: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.",

year = "2020",

doi = "10.1038/s41436-019-0698-4",

language = "English",

volume = "22",

pages = "610--621",

journal = "GENETICS IN MEDICINE ",

issn = "1098-3600",

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Staufner, C, Peters, B, Wagner, M, Alameer, S, Barić, I, Broué, P, Bulut, D, Church, JA, Crushell, E, Dalgıç, B, Das, AM, Dick, A, Dikow, N, Dionisi-Vici, C, Distelmaier, F, Bozbulut, NE, Feillet, F, Gonzales, E, Hadzic, N, Hauck, F, Hegarty, R, Hempel, M, Herget, T, Klein, C, Konstantopoulou, V, Kopajtich, R, Kuster, A, Laass, MW, Lainka, E, Larson-Nath, C, Leibner, A, Lurz, E, Mayr, JA, McKiernan, P, Mention, K, Moog, U, Mungan, NO, Riedhammer, KM, Santer, R, Palafoll, IV, Vockley, J, Westphal, DS, Wiedemann, A, Wortmann, S, Diwan, GD, Russell, RB, Prokisch, H, Garbade, SF, Kölker, S, Hoffmann, GF & Lenz, D 2020, 'Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.', GENETICS IN MEDICINE , vol. 22, no. 3, pp. 610-621. https://doi.org/10.1038/s41436-019-0698-4

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. / Staufner, Christian; Peters, Bianca; Wagner, Matias et al.
In: GENETICS IN MEDICINE , Vol. 22, No. 3, 2020, p. 610-621.

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

TY - JOUR

T1 - Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

AU - Staufner, Christian

AU - Peters, Bianca

AU - Wagner, Matias

AU - Alameer, Seham

AU - Barić, Ivo

AU - Broué, Pierre

AU - Bulut, Derya

AU - Church, Joseph A

AU - Crushell, Ellen

AU - Dalgıç, Buket

AU - Das, Anibh M

AU - Dick, Anke

AU - Dikow, Nicola

AU - Dionisi-Vici, Carlo

AU - Distelmaier, Felix

AU - Bozbulut, Neslihan Ekşi

AU - Feillet, François

AU - Gonzales, Emmanuel

AU - Hadzic, Nedim

AU - Hauck, Fabian

AU - Hegarty, Robert

AU - Hempel, Maja

AU - Herget, Theresia

AU - Klein, Christoph

AU - Konstantopoulou, Vassiliki

AU - Kopajtich, Robert

AU - Kuster, Alice

AU - Laass, Martin W

AU - Lainka, Elke

AU - Larson-Nath, Catherine

AU - Leibner, Alexander

AU - Lurz, Eberhard

AU - Mayr, Johannes A.

AU - McKiernan, Patrick

AU - Mention, Karine

AU - Moog, Ute

AU - Mungan, Neslihan Onenli

AU - Riedhammer, Korbinian M

AU - Santer, René

AU - Palafoll, Irene Valenzuela

AU - Vockley, Jerry

AU - Westphal, Dominik S

AU - Wiedemann, Arnaud

AU - Wortmann, Saskia

AU - Diwan, Gaurav D

AU - Russell, Robert B

AU - Prokisch, Holger

AU - Garbade, Sven F

AU - Kölker, Stefan

AU - Hoffmann, Georg F

AU - Lenz, Dominic

N1 - Wortmann; Mayr, JA: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.

PY - 2020

Y1 - 2020

KW - ACUTE LIVER-FAILURE

KW - AMPLIFIED SEQUENCE GENE

KW - SOPH SYNDROME

KW - MUTATIONS

KW - DEFICIENCY

KW - PREDICTION

KW - DISORDERS

KW - SECONDARY

KW - VARIANTS

KW - ONSET

U2 - 10.1038/s41436-019-0698-4

DO - 10.1038/s41436-019-0698-4

M3 - Original Article

C2 - 31761904

SN - 1098-3600

VL - 22

SP - 610

EP - 621

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 3

ER -

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P et al. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. GENETICS IN MEDICINE . 2020;22(3):610-621. doi: 10.1038/s41436-019-0698-4