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2. The Effects of Limosilactobacillus reuteri LR-99 Supplementation on Body Mass Index, Social Communication, Fine Motor Function, and Gut Microbiome Composition in Individuals with Prader–Willi Syndrome: a Randomized Double-Blinded Placebo-Controlled Trial

Author

Kong, Xue-Jun, Liu, Kevin, Zhuang, Patrick, Tian, Ruiyi, Liu, Siyu, Clairmont, Cullen, Lin, Xiaojing, Sherman, Hannah, Zhu, Junli, Wang, Yelan, Fong, Michelle, Li, Alice, Wang, Bryan K., Wang, Jinghan, Yu, Zhehao, Shen, Chen, Cui, Xianghua, Cao, Hanyu, Du, Ting, Wan, Guobin, and Cao, Xia

Published
2021
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10. Supplementary files for 'A Next Generation Sequencing-based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder'

Author

Huang, Jie, Liu, Jun, Tian, Ruiyi, Liu, Kevin, Zhuang, Patrick, Sherman, Hannah T., Budjan, Christoph, Fong, Michelle, Jeong, Min Seo, and Kong, Xue-Jun

Abstract

Supplementary filefor "A Next Generation Sequencing-based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder." The supplementary file included corresponds to Figure S1: Average sequencing depth (bar plot) and coverage (dot-line plot) in each chromosome. The x-axis represents chromosome; the left y-axis is the average depth; the right y-axis is the cov-erage (proportion of covered bases).; Figure S2: Sample ASD WGS genetics report for participants.; Table S1: Sanger sequencing primer information.

Published
2021
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11. Probiotic and Oxytocin Combination Therapy in Patients with Autism Spectrum Disorder: A Randomized, Double-Blinded, Placebo-Controlled Pilot Trial

Author

Kong, Xue-Jun, primary, Liu, Jun, additional, Liu, Kevin, additional, Koh, Madelyn, additional, Sherman, Hannah, additional, Liu, Siyu, additional, Tian, Ruiyi, additional, Sukijthamapan, Piyawat, additional, Wang, Jiuju, additional, Fong, Michelle, additional, Xu, Lei, additional, Clairmont, Cullen, additional, Jeong, Min-Seo, additional, Li, Alice, additional, Lopes, Maria, additional, Hagan, Veronica, additional, Dutton, Tess, additional, Chan, Suk-Tak (Phoebe), additional, Lee, Hang, additional, Kendall, Amy, additional, Kwong, Kenneth, additional, and Song, Yiqing, additional

Published
2021
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12. The Effects of Probiotic Supplementation on Anthropometric Growth and Gut Microbiota Composition in Patients With Prader-Willi Syndrome: A Randomized Double-Blinded Placebo-Controlled Trial

Author

Kong, Xue-Jun, primary, Wan, Guobin, additional, Tian, Ruiyi, additional, Liu, Siyu, additional, Liu, Kevin, additional, Clairmont, Cullen, additional, Lin, Xiaojing, additional, Zhang, Xiaoying, additional, Sherman, Hannah, additional, Zhu, Junli, additional, Wang, Yelan, additional, Fong, Michelle, additional, Li, Alice, additional, Wang, Bryan K., additional, Wang, Jinghan, additional, Liu, Jun, additional, Yu, Zhehao, additional, Shen, Chen, additional, Cui, Xianghua, additional, Cao, Hanyu, additional, Du, Ting, additional, and Cao, Xia, additional

Published
2021
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13. Early Screening and Risk Factors of Autism Spectrum Disorder in a Large Cohort of Chinese Patients With Prader-Willi Syndrome

Author

Kong, Xuejun, primary, Zhu, Junli, additional, Tian, Ruiyi, additional, Liu, Siyu, additional, Sherman, Hannah T., additional, Zhang, Xiaoying, additional, Lin, Xiaojing, additional, Han, Yan, additional, Xiang, Zhi, additional, Koh, Madelyn, additional, Hobbie, Clara, additional, Wang, Bryan, additional, Liu, Kevin, additional, Liu, Jun, additional, Yin, Yueping, additional, and Wan, Guobin, additional

Published
2020
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16. A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder.

Author

Huang, Jie, Liu, Jun, Tian, Ruiyi, Liu, Kevin, Zhuang, Patrick, Sherman, Hannah Tayla, Budjan, Christoph, Fong, Michelle, Jeong, Min-Seo, and Kong, Xue-Jun

Subjects
CHILDREN with autism spectrum disorders, AUTISM spectrum disorders, MEDICAL screening, WHOLE genome sequencing, GENETIC disorders, GENETIC testing, AUTISTIC children
Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods are lacking an academic standard for WGS variant annotation, reporting, and interpretation, tailored towards patients with ASD and offer very limited interpretation for clinical significance. Using WGS data from six family trios, we demonstrate the clinical feasibility and technical implementation of an evidence-based, fully transparent bioinformatics pipeline and report framework for an ASD-focused WGS genetic report. We confirmed a portion of the key variants with Sanger sequencing and provided interpretation with consideration of patients' clinical symptoms and detailed literature review. Furthermore, we showed that identification of the genetic contributions of ASD core symptoms and comorbidities may promote a better understanding of the ASD pathophysiology, lead to early detection of associated comorbidities, and facilitate pharmacologic intervention based on pathological pathways inferred from the genetic information. We will make the bioinformatics pipeline and interpretation framework publicly available, in an easily accessible format, after validation with a larger cohort. We hope that the present proposed protocol can serve as a starting point to invite discourse and debate to further improve approaches in WGS-based genetic consultation for patients with ASD. [ABSTRACT FROM AUTHOR]

Published
2022
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