Publications by authors named "Kuokuo Li"

11Publications

De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders.

J Mol Med (Berl) 2020 Dec 12;98(12):1701-1712. Epub 2020 Oct 12.

National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, 87 #, Xiangya Road, Changsha, 410008, Hunan, China.

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http://dx.doi.org/10.1007/s00109-020-01991-yDOI Listing
December 2020

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

Mol Autism 2020 10 6;11(1):75. Epub 2020 Oct 6.

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/10.1186/s13229-020-00382-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541261PMC
October 2020

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 Dec 10;70(12):2085-2092. 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
December 2020

Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders.

Autism Res 2020 03 24;13(3):382-396. Epub 2019 Oct 24.

Mental Health Institute, The Second Xiangya Hospital, Central South University, Changsha, China.

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http://dx.doi.org/10.1002/aur.2229DOI Listing
March 2020

Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.

Nucleic Acids Res 2020 01;48(D1):D913-D926

National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1093/nar/gkz923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145562PMC
January 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

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

Molecular biology of frozen shoulder-induced limitation of shoulder joint movements.

J Res Med Sci 2017 30;22:61. Epub 2017 May 30.

Guangzhou Medical University, Guangzhou 510182, P. R. China.

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http://dx.doi.org/10.4103/jrms.JRMS_1005_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461583PMC
May 2017