Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death

Denisa Weis; Liangguang Leo Lin; Huilin Helen Wang; Zexin Jason Li; Katarina Kusikova; Peter Ciznar; Hermann M Wolf; Alexander Leiss-Piller; Zhihong Wang; Xiaoqiong Wei; Serge Weis; Katarina Skalicka; Gabriela Hrčková; Lubos Danisovic; Andrea Soltysova; Tingxuan Tina Yang; Rene Günther Feichtinger; Johannes A. Mayr; Ling Qi

doi:10.1172/JCI170882

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death

Denisa Weis, Liangguang Leo Lin, Huilin Helen Wang, Zexin Jason Li, Katarina Kusikova, Peter Ciznar, Hermann M Wolf, Alexander Leiss-Piller, Zhihong Wang, Xiaoqiong Wei, Serge Weis, Katarina Skalicka, Gabriela Hrčková, Lubos Danisovic, Andrea Soltysova, Tingxuan Tina Yang, Rene Günther Feichtinger, Johannes A. Mayr, Ling Qi

Department of Pathology and Molecular Pathology

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

Original language	English
Article number	e170882
Number of pages	35
Journal	The Journal of Clinical Investigation
Volume	134
Issue number	2
DOIs	https://doi.org/10.1172/JCI170882
Publication status	Published - Nov 2023

Fields of science

301101 General pathology
301108 Molecular pathology

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10.1172/JCI170882

Cite this

Weis, D., Lin, L. L., Wang, H. H., Li, Z. J., Kusikova, K., Ciznar, P., Wolf, H. M., Leiss-Piller, A., Wang, Z., Wei, X., Weis, S., Skalicka, K., Hrčková, G., Danisovic, L., Soltysova, A., Yang, T. T., Feichtinger, R. G., Mayr, J. A., & Qi, L. (2023). Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death. The Journal of Clinical Investigation, 134(2), Article e170882. https://doi.org/10.1172/JCI170882

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title = "Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death",

author = "Denisa Weis and Lin, \{Liangguang Leo\} and Wang, \{Huilin Helen\} and Li, \{Zexin Jason\} and Katarina Kusikova and Peter Ciznar and Wolf, \{Hermann M\} and Alexander Leiss-Piller and Zhihong Wang and Xiaoqiong Wei and Serge Weis and Katarina Skalicka and Gabriela Hr{\v c}kov{\'a} and Lubos Danisovic and Andrea Soltysova and Yang, \{Tingxuan Tina\} and Feichtinger, \{Rene G{\"u}nther\} and Mayr, \{Johannes A.\} and Ling Qi",

year = "2023",

month = nov,

doi = "10.1172/JCI170882",

language = "English",

volume = "134",

journal = "The Journal of Clinical Investigation",

issn = "0021-9738",

number = "2",

}

Weis, D, Lin, LL, Wang, HH, Li, ZJ, Kusikova, K, Ciznar, P, Wolf, HM, Leiss-Piller, A, Wang, Z, Wei, X, Weis, S, Skalicka, K, Hrčková, G, Danisovic, L, Soltysova, A, Yang, TT, Feichtinger, RG, Mayr, JA & Qi, L 2023, 'Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death', The Journal of Clinical Investigation, vol. 134, no. 2, e170882. https://doi.org/10.1172/JCI170882

TY - JOUR

T1 - Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death

AU - Weis, Denisa

AU - Lin, Liangguang Leo

AU - Wang, Huilin Helen

AU - Li, Zexin Jason

AU - Kusikova, Katarina

AU - Ciznar, Peter

AU - Wolf, Hermann M

AU - Leiss-Piller, Alexander

AU - Wang, Zhihong

AU - Wei, Xiaoqiong

AU - Weis, Serge

AU - Skalicka, Katarina

AU - Hrčková, Gabriela

AU - Danisovic, Lubos

AU - Soltysova, Andrea

AU - Yang, Tingxuan Tina

AU - Feichtinger, Rene Günther

AU - Mayr, Johannes A.

AU - Qi, Ling

PY - 2023/11

Y1 - 2023/11

UR - https://www.scopus.com/pages/publications/85182602762

U2 - 10.1172/JCI170882

DO - 10.1172/JCI170882

M3 - Article

C2 - 37943617

SN - 0021-9738

VL - 134

JO - The Journal of Clinical Investigation

JF - The Journal of Clinical Investigation

IS - 2

M1 - e170882

ER -

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death

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