Publications by authors named "Yingting Quan"

6Publications

Excess of RALGAPB de novo variants in neurodevelopmental disorders.

Eur J Med Genet 2020 Nov 24;63(11):104041. Epub 2020 Aug 24.

Center of Medical Genetics & Hunan Key Laboratory of Medical Genetics, School Of Life Sciences, Central South University, Changsha, Hunan, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha 410078, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104041DOI Listing
November 2020

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.

J Mol Neurosci 2020 Jun 10. Epub 2020 Jun 10.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1007/s12031-020-01615-7DOI Listing
June 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

POGZ de novo missense variants in neuropsychiatric disorders.

Mol Genet Genomic Med 2019 09 25;7(9):e900. Epub 2019 Jul 25.

Center of Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.900
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http://dx.doi.org/10.1002/mgg3.900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732319PMC
September 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Mol Genet Genomic Med 2019 07 14;7(7):e00789. Epub 2019 Jun 14.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

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http://dx.doi.org/10.1002/mgg3.789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625093PMC
July 2019