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1. Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.

Author

Früh, Simon, Boudkkazi, Sami, Koppensteiner, Peter, Sereikaite, Vita, Chen, Li-Yuan, Fernandez-Fernandez, Diego, Rem, Pascal, Ulrich, Daniel, Schwenk, Jochen, Chen, Ziyang, Le Monnier, Elodie, Fritzius, Thorsten, Innocenti, Sabrina, Besseyrias, Valérie, Trovò, Luca, Stawarski, Michal, Argilli, Emanuela, Sherr, Elliott, van Bon, Bregje, Kamsteeg, Erik-Jan, Iascone, Maria, Pilotta, Alba, Cutrì, Maria, Azamian, Mahshid, Hernández-García, Andrés, Lalani, Seema, Rosenfeld, Jill, Zhao, Xiaonan, Vogel, Tiphanie, Ona, Herda, Scott, Daryl, Scheiffele, Peter, Strømgaard, Kristian, Tafti, Mehdi, Gassmann, Martin, Fakler, Bernd, Shigemoto, Ryuichi, and Bettler, Bernhard

Subjects
Animals, Female, Humans, Male, Mice, Alleles, Epilepsy, Loss of Function Mutation, Mice, Knockout, Neurodevelopmental Disorders, Neuronal Plasticity, Neurons, Neurotransmitter Agents, Synapses, Synaptic Transmission, Cell Adhesion Molecules
Abstract

Adherens junction-associated protein 1 (AJAP1) has been implicated in brain diseases; however, a pathogenic mechanism has not been identified. AJAP1 is widely expressed in neurons and binds to γ-aminobutyric acid type B receptors (GBRs), which inhibit neurotransmitter release at most synapses in the brain. Here, we show that AJAP1 is selectively expressed in dendrites and trans-synaptically recruits GBRs to presynaptic sites of neurons expressing AJAP1. We have identified several monoallelic AJAP1 variants in individuals with epilepsy and/or neurodevelopmental disorders. Specifically, we show that the variant p.(W183C) lacks binding to GBRs, resulting in the inability to recruit them. Ultrastructural analysis revealed significantly decreased presynaptic GBR levels in Ajap1-/- and Ajap1W183C/+ mice. Consequently, these mice exhibited reduced GBR-mediated presynaptic inhibition at excitatory and inhibitory synapses, along with impaired synaptic plasticity. Our study reveals that AJAP1 enables the postsynaptic neuron to regulate the level of presynaptic GBR-mediated inhibition, supporting the clinical relevance of loss-of-function AJAP1 variants.

Published
2024

5. Semantic Embedded Deep Neural Network: A Generic Approach to Boost Multi-Label Image Classification Performance

Author

Shen, Xin, Zhao, Xiaonan, and Luo, Rui

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Artificial Intelligence, Computer Science - Robotics
Abstract

Fine-grained multi-label classification models have broad applications in e-commerce, such as visual based label predictions ranging from fashion attribute detection to brand recognition. One challenge to achieve satisfactory performance for those classification tasks in real world is the wild visual background signal that contains irrelevant pixels which confuses model to focus onto the region of interest and make prediction upon the specific region. In this paper, we introduce a generic semantic-embedding deep neural network to apply the spatial awareness semantic feature incorporating a channel-wise attention based model to leverage the localization guidance to boost model performance for multi-label prediction. We observed an Avg.relative improvement of 15.27% in terms of AUC score across all labels compared to the baseline approach. Core experiment and ablation studies involve multi-label fashion attribute classification performed on Instagram fashion apparels' image. We compared the model performances among our approach, baseline approach, and 3 alternative approaches to leverage semantic features. Results show favorable performance for our approach.

Published
2023

6. Fracture Crack Recognition Based on YOLOv5

Author

Zhao, Xiaonan, Wu, Yang, Wang, Qi, Zhang, Min, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Tan, Kay Chen, Series Editor, Wang, Wei, editor, Liu, Xin, editor, Na, Zhenyu, editor, and Zhang, Baoju, editor

Published
2024
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7. Research and Application of Medical Image Segmentation Method Based on CNN

Author

Zhao, Xiaonan, Wang, Keying, Wei, Zixian, Ku, Rui, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Tan, Kay Chen, Series Editor, Wang, Wei, editor, Mu, Jiasong, editor, Liu, Xin, editor, and Na, Zhenyu Na, editor

Published
2024
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8. Application and Analysis of Medical Image Processing Based on Improved CLAHE

Author

Zhao, Xiaonan, Tao, Shiqi, Ku, Rui, Wei, Zixian, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Tan, Kay Chen, Series Editor, Wang, Wei, editor, Mu, Jiasong, editor, Liu, Xin, editor, and Na, Zhenyu Na, editor

Published
2024
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9. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

Author

Huth, Emily A., Zhao, Xiaonan, Owen, Nichole, Luna, Pamela N., Vogel, Ida, Dorf, Inger L. H., Joss, Shelagh, Clayton-Smith, Jill, Parker, Michael J., Louw, Jacoba J., Gewillig, Marc, Breckpot, Jeroen, Kraus, Alison, Sasaki, Erina, Kini, Usha, Burgess, Trent, Tan, Tiong Y., Armstrong, Ruth, Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Kerstjens-Frederikse, Wihelmina S., Rankin, Julia, Helvaty, Lindsey R., Landis, Benjamin J., Geddes, Gabrielle C., McBride, Kim L., Ware, Stephanie M., Shaw, Chad A., Lalani, Seema R., Rosenfeld, Jill A., and Scott, Daryl A.

Published
2023
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10. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Author

Sy, Mary, Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti-Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille, Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos, Kuwahara, Akela, Zhao, Xiaonan, Luna, Pamela, Shaw, Chad, Rosenfeld, Jill, Scott, Daryl, and Bush, Jeffrey

Subjects
Fanconi anemia, NRXN1, TCF4, esophageal atresia, exome sequencing, tracheoesophageal fistula, Humans, Tracheoesophageal Fistula, Esophageal Atresia, Exome, Exome Sequencing
Abstract

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to identify phenotypic expansions involving EA/TEF. Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and/or environmental factors may play a particularly important role in EA/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect TCF4 and its downstream target NRXN1, and FANCA, FANCB, and FANCC, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA/TEF.

Published
2022

11. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Author

Hardcastle, Amy, Berry, Aliska, Campbell, Ian, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda, Rosenfeld, Jill, Sisoudiya, Saumya, Hernandez-Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria, Capolino, Rossella, Digilio, Maria, Graziani, Ludovico, Rustad, Cecilie, Neas, Katherine, Ferrero, Giovanni, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic, Dean, John, Giuffrida, Maria, Bernardini, Laura, Varghese, Vinod, Shannon, Nora, Harrison, Rachel, Lam, Wayne, McKee, Shane, Turnpenny, Peter, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad, Chung, Wendy, Scott, Daryl, and Jones, Marilyn

Subjects
CREBBP, DECIPHER database, SMARCA4, UBA2, USP9X, congenital diaphragmatic hernia, Animals, DNA Copy Number Variations, Diaphragm, Hernias, Diaphragmatic, Congenital, Mice
Abstract

Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting CREBBP, SMARCA4, UBA2, and USP9X. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similarity to known CDH genes using data from a previously published and validated machine learning algorithm, and/or the presence of CDH in other individuals with their associated genetic disorders. Our results demonstrate how data from DECIPHER, and other public databases, can be used to identify new phenotypic expansions and suggest that CREBBP, SMARCA4, UBA2, and USP9X play a role in diaphragm development.

Published
2022

13. Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants

Author

Aliazami, Farnoush, Ribeiro Carneiro, Thaise Nayane, Akbarzadeh, Mahdi, Kazemioula, Golnesa, Saeidian, Amir Hesam, Palizban, Fahimeh, Biglari, Sajjad, Coleman, David, Snyder, James, Wang, Fengxiang, Billings, Jonathan, Terek, Shannon, Mentch, Frank, Regan-Fendt, Kelly, Tsoi, Lam C., Dorrani, Naghmeh, Saeidian, Amir Hossein, March, Michael E., Youssefian, Leila, Watson, Deborah J., Bhandari, Esha, Wang, Xiang, Zhao, Xiaonan, Owen, Nichole Marie, Strong, Alanna, Harr, Margaret H., Bhoj, Elizabeth, Zackai, Elaine, Vahidnezhad, Hassan, Gudjonsson, Johann E., Cederbaum, Stephen D., Deignan, Joshua L., Glessner, Joseph, Grody, Wayne W., and Hakonarson, Hakon

Published
2024
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15. Visual Representation Learning with Self-Supervised Attention for Low-Label High-data Regime

Author

Bhattacharyya, Prarthana, Li, Chenge, Zhao, Xiaonan, Fehérvári, István, and Sun, Jason

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning
Abstract

Self-supervision has shown outstanding results for natural language processing, and more recently, for image recognition. Simultaneously, vision transformers and its variants have emerged as a promising and scalable alternative to convolutions on various computer vision tasks. In this paper, we are the first to question if self-supervised vision transformers (SSL-ViTs) can be adapted to two important computer vision tasks in the low-label, high-data regime: few-shot image classification and zero-shot image retrieval. The motivation is to reduce the number of manual annotations required to train a visual embedder, and to produce generalizable and semantically meaningful embeddings. For few-shot image classification we train SSL-ViTs without any supervision, on external data, and use this trained embedder to adapt quickly to novel classes with limited number of labels. For zero-shot image retrieval, we use SSL-ViTs pre-trained on a large dataset without any labels and fine-tune them with several metric learning objectives. Our self-supervised attention representations outperforms the state-of-the-art on several public benchmarks for both tasks, namely miniImageNet and CUB200 for few-shot image classification by up-to 6%-10%, and Stanford Online Products, Cars196 and CUB200 for zero-shot image retrieval by up-to 4%-11%. Code is available at \url{https://github.com/AutoVision-cloud/SSL-ViT-lowlabel-highdata}., Comment: Accepted to ICASSP-2022

Published
2022

23. Radial Basis Function Neural Network Based Fast Directional Modulation Design

Author

Zhou, Mingjie, Zhang, Bo, Zhang, Baoju, Wang, Wei, Wang, Bo, Han, Lin, Zhao, Xiaonan, Wang, Cheng, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Wang, Wei, editor, Liu, Xin, editor, Na, Zhenyu, editor, and Zhang, Baoju, editor

Published
2023
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24. Directional Modulation Design Based on Generalized Recurrent Neural Network

Author

Xu, Ting, Zhang, Bo, Zhang, Baoju, Wang, Wei, Wang, Bo, Mu, Lin, Zhao, Xiaonan, Wang, Cheng, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Wang, Wei, editor, Liu, Xin, editor, Na, Zhenyu, editor, and Zhang, Baoju, editor

Published
2023
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28. Clinical features and treatment of functional vision loss

Author

Zhao Xiaonan, Cheng Xianning, Wang Hong

Subjects
binocular function, functional vision loss, visual function training, amblyopia, myopia, children, Medicine
Abstract

Objective To investigate the clinical features of functional vision loss and evaluate the efficacy of different types of visual function training. Methods Clinical data of children with functional vision loss admitted to Outpatient Department were retrospectively analyzed. All children were divided into the observation and control groups according to whether they received visual function training. In the observation group，patients received binocular function training （including accommodative and convergence training） and those in the control group received refractive correction alone. Visual acuity and binocular function were assessed during follow-up. Results Four weeks later，the best corrected visual acuity （BCVA） of all 36 eyes （100%） was improved to 1.0 in the observation group，while 16 eyes （51.6% ） in the control group，and the difference was statistically significant （P < 0.001）. After visual function training，all parameters of accommodation were significantly improved compared with those before corresponding training in both observation and control groups，and the efficacy in the observation group were better than that in control group （all P < 0.05）. In the observation group，patients with abnormal accommodation alone achieved better improvement in BCVA compared with their counterparts complicated with convergence insufficiency or convergence excess. One month after the cessation of training，the BCVA of 4 eyes of patients with abnormal accommodation complicated with convergence excess was declined，and that of the remaining 32 eyes was maintained at 1.0. Conclusions Functional vision loss is mainly caused by abnormal accommodation alone. Visual function training can effectively improve the visual acuity，especially for patients with abnormal accommodation alone. Patients with abnormal accommodation complicated with convergence excess require longer training time. Relevant symptoms are prone to recurrence after the cessation of training.

Published
2023
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36. A weakly supervised adaptive triplet loss for deep metric learning

Author

Zhao, Xiaonan, Qi, Huan, Luo, Rui, and Davis, Larry

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

We address the problem of distance metric learning in visual similarity search, defined as learning an image embedding model which projects images into Euclidean space where semantically and visually similar images are closer and dissimilar images are further from one another. We present a weakly supervised adaptive triplet loss (ATL) capable of capturing fine-grained semantic similarity that encourages the learned image embedding models to generalize well on cross-domain data. The method uses weakly labeled product description data to implicitly determine fine grained semantic classes, avoiding the need to annotate large amounts of training data. We evaluate on the Amazon fashion retrieval benchmark and DeepFashion in-shop retrieval data. The method boosts the performance of triplet loss baseline by 10.6% on cross-domain data and out-performs the state-of-art model on all evaluation metrics., Comment: 4 pages, ICCV Fashion Workshop

Published
2019

40. Marker Codes Using the Data Punching in the Presence of Insertions/Deletions

Author

Lu, Yiwei, Liu, Yuan, Zhao, Xiaonan, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Hirche, Sandra, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Möller, Sebastian, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Wang, Wei, editor, Liu, Xin, editor, Na, Zhenyu, editor, and Zhang, Baoju, editor

Published
2022
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41. Research on the Application of Natural Language Processing in the Virtual Comment’s Classification

Author

Lian, Junda, Zhang, Bo, Zhang, Jing, Ban, Linpeng, Zhao, Xiaonan, Wang, Cheng, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Hirche, Sandra, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Möller, Sebastian, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Wang, Wei, editor, Mu, Jiasong, editor, Liu, Xin, editor, and Na, Zhenyu, editor

Published
2022
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42. Research on Problem Matching Classification Based on Artificial Intelligence Technology

Author

Ban, Linpeng, Zhang, Bo, Zhang, Jing, Lian, Junda, Zhao, Xiaonan, Wang, Cheng, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Hirche, Sandra, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Möller, Sebastian, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Wang, Wei, editor, Mu, Jiasong, editor, Liu, Xin, editor, and Na, Zhenyu, editor

Published
2022
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43. Analysis and Test of RSA Algorithm in Smart Electricity Meter Identity Authentication

Author

Yin, Zhiling, Xue, Feng, Liu, Piao, Luo, Jinman, Zeng, Xianyu, Feng, Ruijue, Zhao, Xiaonan, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Hirche, Sandra, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Möller, Sebastian, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Xue, Yusheng, editor, Zheng, Yuping, editor, and Novosel, Damir, editor

Published
2022
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47. Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.

Author

Zhao, Xiaonan, Gazy, Inbal, Hayward, Bruce, Pintado, Elizabeth, Hwang, Ye Hyun, Tassone, Flora, and Usdin, Karen

Subjects
CGG Repeat Expansion Disease, DNA instability, Non-homologous end-joining, base excision repair, contraction, double-strand break repair, expansion, mismatch repair, mosaicism, transcription coupled repair, Neurosciences, Psychology, Cognitive Sciences
Abstract

The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the FMR1 gene. Mouse models are proving useful for understanding many aspects of disease pathology in these disorders. There is also reason to think that such models may be useful for understanding the molecular basis of the unusual mutation responsible for these disorders. This review will discuss what has been learnt to date about mechanisms of repeat instability from a knock-in FXD mouse model and what the implications of these findings may be for humans carrying expansion-prone FMR1 alleles.

Published
2019

50. A community approach to the cancer-variant-interpretation bottleneck

Author

Krysiak, Kilannin, Danos, Arpad M., Kiwala, Susanna, McMichael, Joshua F., Coffman, Adam C., Barnell, Erica K., Sheta, Lana, Saliba, Jason, Grisdale, Cameron J., Kujan, Lynzey, Pema, Shahil, Lever, Jake, Spies, Nicholas C., Chiorean, Andreea, Rieke, Damian T., Clark, Kaitlin A., Jani, Payal, Takahashi, Hideaki, Horak, Peter, Ritter, Deborah I., Zhou, Xin, Ainscough, Benjamin J., Delong, Sean, Lamping, Mario, Marr, Alex R., Li, Brian V., Lin, Wan-Hsin, Terraf, Panieh, Salama, Yasser, Campbell, Katie M., Farncombe, Kirsten M., Ji, Jianling, Zhao, Xiaonan, Xu, Xinjie, Kanagal-Shamanna, Rashmi, Cotto, Kelsy C., Skidmore, Zachary L., Walker, Jason R., Zhang, Jinghui, Milosavljevic, Aleksandar, Patel, Ronak Y., Giles, Rachel H., Kim, Raymond H., Schriml, Lynn M., Mardis, Elaine R., Jones, Steven J. M., Raca, Gordana, Rao, Shruti, Madhavan, Subha, Wagner, Alex H., Griffith, Obi L., and Griffith, Malachi

Published
2022
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