Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Simone Schröder; Yun Li; Gökhan Yigit; Janine Altmüller; Ingrid Bader; Andrea Bevot; Saskia Biskup; Steffi Dreha-Kulaczewski; G Christoph Korenke; Raimund Kottke; Johannes A. Mayr; Martin Preisel; Sandra P Toelle; Sarah Wente-Schulz; Saskia Wortmann; Heidi Hahn; Eugen Boltshauser; Anja Uhmann; Bernd Wollnik; Knut Brockmann

doi:10.1038/s41436-020-00979-w

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Simone Schröder, Yun Li, Gökhan Yigit, Janine Altmüller, Ingrid Bader (Co-author), Andrea Bevot, Saskia Biskup, Steffi Dreha-Kulaczewski, G Christoph Korenke, Raimund Kottke, Johannes A. Mayr (Co-author), Martin Preisel, Sandra P Toelle, Sarah Wente-Schulz, Saskia Wortmann (Co-author), Heidi Hahn, Eugen Boltshauser, Anja Uhmann, Bernd Wollnik, Knut Brockmann

Department of Pediatrics

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

10 Citations (Web of Science)

Original language	English
Pages (from-to)	341-351
Journal	GENETICS IN MEDICINE
Volume	23
Issue number	2
DOIs	https://doi.org/10.1038/s41436-020-00979-w
Publication status	Published - 2021

Keywords

JOUBERT SYNDROME
MUTATIONS
GENE

Access to Document

10.1038/s41436-020-00979-w

Cite this

Schröder, S., Li, Y., Yigit, G., Altmüller, J., Bader, I., Bevot, A., Biskup, S., Dreha-Kulaczewski, S., Christoph Korenke, G., Kottke, R., Mayr, J. A., Preisel, M., Toelle, S. P., Wente-Schulz, S., Wortmann, S., Hahn, H., Boltshauser, E., Uhmann, A., Wollnik, B., & Brockmann, K. (2021). Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. GENETICS IN MEDICINE , 23(2), 341-351. https://doi.org/10.1038/s41436-020-00979-w

Schröder, Simone ; Li, Yun ; Yigit, Gökhan et al. / Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. In: GENETICS IN MEDICINE 2021 ; Vol. 23, No. 2. pp. 341-351.

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title = "Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.",

keywords = "JOUBERT SYNDROME, MUTATIONS, GENE",

author = "Simone Schr{\"o}der and Yun Li and G{\"o}khan Yigit and Janine Altm{\"u}ller and Ingrid Bader and Andrea Bevot and Saskia Biskup and Steffi Dreha-Kulaczewski and {Christoph Korenke}, G and Raimund Kottke and Mayr, {Johannes A.} and Martin Preisel and Toelle, {Sandra P} and Sarah Wente-Schulz and Saskia Wortmann and Heidi Hahn and Eugen Boltshauser and Anja Uhmann and Bernd Wollnik and Knut Brockmann",

note = "Bader; Wortmann; Mayer; Preisel: Paracelsus Med Univ, Univ Hosp Salzburg, Dept Pediat, Salzburg, Austria;",

year = "2021",

doi = "10.1038/s41436-020-00979-w",

language = "English",

volume = "23",

pages = "341--351",

journal = "GENETICS IN MEDICINE ",

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Schröder, S, Li, Y, Yigit, G, Altmüller, J, Bader, I, Bevot, A, Biskup, S, Dreha-Kulaczewski, S, Christoph Korenke, G, Kottke, R, Mayr, JA, Preisel, M, Toelle, SP, Wente-Schulz, S, Wortmann, S, Hahn, H, Boltshauser, E, Uhmann, A, Wollnik, B & Brockmann, K 2021, 'Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.', GENETICS IN MEDICINE , vol. 23, no. 2, pp. 341-351. https://doi.org/10.1038/s41436-020-00979-w

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. / Schröder, Simone; Li, Yun; Yigit, Gökhan et al.
In: GENETICS IN MEDICINE , Vol. 23, No. 2, 2021, p. 341-351.

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

TY - JOUR

T1 - Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

AU - Schröder, Simone

AU - Li, Yun

AU - Yigit, Gökhan

AU - Altmüller, Janine

AU - Bader, Ingrid

AU - Bevot, Andrea

AU - Biskup, Saskia

AU - Dreha-Kulaczewski, Steffi

AU - Christoph Korenke, G

AU - Kottke, Raimund

AU - Mayr, Johannes A.

AU - Preisel, Martin

AU - Toelle, Sandra P

AU - Wente-Schulz, Sarah

AU - Wortmann, Saskia

AU - Hahn, Heidi

AU - Boltshauser, Eugen

AU - Uhmann, Anja

AU - Wollnik, Bernd

AU - Brockmann, Knut

N1 - Bader; Wortmann; Mayer; Preisel: Paracelsus Med Univ, Univ Hosp Salzburg, Dept Pediat, Salzburg, Austria;

PY - 2021

Y1 - 2021

KW - JOUBERT SYNDROME

KW - MUTATIONS

KW - GENE

U2 - 10.1038/s41436-020-00979-w

DO - 10.1038/s41436-020-00979-w

M3 - Original Article (Journal)

C2 - 33024317

SN - 1098-3600

VL - 23

SP - 341

EP - 351

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 2

ER -

Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A et al. Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. GENETICS IN MEDICINE . 2021;23(2):341-351. doi: 10.1038/s41436-020-00979-w