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Critical Reviews in Clinical Laboratory Sciences Volume 51, 2014 - Issue 5
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Review Article

Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era

Yong-Hui JiangDepartment of Pediatrics and Neurobiology, Duke University School of Medicine Durham, NCUSA;Division of Neurology, The Children's Hospital of Fudan University ShanghaiPeople's Republic of China
,
Yi WangDivision of Neurology, The Children's Hospital of Fudan University ShanghaiPeople's Republic of China
,
Xu XiuDivision of Child Development and Health, The Children's Hospital of Fudan University ShanghaiPeople's Republic of China
,
Kwong Wai ChoyDepartment of Obstetrics and Gynecology, and Joint Centre with Utrecht University Genetic core, School of Biomedical Sciences, The Chinese University of Hong Kong Hong KongPeople's Republic of China
,
Amber Nolen PursleyDepartment of Molecular and Human Genetics, Baylor College of Medicine Houston, TXUSA
&
Sau W. CheungDepartment of Molecular and Human Genetics, Baylor College of Medicine Houston, TXUSACorrespondence[email protected]
Pages 249-262 | Received 16 Dec 2013, Accepted 30 Mar 2014, Published online: 30 May 2014

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Gabrielle Bertier, Karine Sénécal, Pascal Borry & Danya F. Vears. (2017) Unsolved challenges in pediatric whole-exome sequencing: A literature analysis. Critical Reviews in Clinical Laboratory Sciences 54:2, pages 134-142.
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Chuan-Po Wang, Cheng-Hui Tsai & Yann-Long Lee. (2022) Requesting Help Module Interface Design on Key Partial Video with Action and Augmented Reality for Children with Autism Spectrum Disorder. Applied Sciences 12:17, pages 8527.
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Aram Kim & Deepa S. Rajan. 2022. Symptom-Based Approach to Pediatric Neurology. Symptom-Based Approach to Pediatric Neurology 47 65 .
Sung Eun Wang & Yong-Hui Jiang. 2022. Epigenetic Epidemiology. Epigenetic Epidemiology 405 426 .
Swati Agarwala & Nallur B. Ramachandra. (2021) Role of CNTNAP2 in autism manifestation outlines the regulation of signaling between neurons at the synapse. Egyptian Journal of Medical Human Genetics 22:1.
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Roberta Milone, Claudia Cesario, Marina Goldoni, Rosa Pasquariello, Caterina Fusilli, Agnese Giovannetti, Sabrina Giglio, Antonio Novelli, Viviana Caputo, Giovanni Cioni, Tommaso Mazza, Agatino Battaglia, Laura Bernardini & Roberta Battini. (2020) Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders. Journal of Pediatric Genetics 10:04, pages 292-299.
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Luxi Shen, Panyuan Li, Tianjin Zheng, Meichen Luo, Shao Zhang, Yuting Huang, Yongwu Hu & Hongzhi Li. (2021) Comparative analysis of the autism‑related variants between different autistic children in a family pedigree. Molecular Medicine Reports 24:4.
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Shixi Zhao, Wei‐Ju Chen, Shweta U. Dhar, Tanya N. Eble, Oi‐Man Kwok & Lei‐Shih Chen. (2020) Pursuing genetic testing for children with autism spectrum disorders: What do parents think?. Journal of Genetic Counseling 30:2, pages 370-382.
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Shixi Zhao, Wei-Ju Chen, Oi-Man Kwok, Shweta U. Dhar, Tanya N. Eble, Tung-Sung Tseng & Lei-Shih Chen. (2021) Psychometric Properties of the POAGTS: A Tool for Understanding Parents’ Perceptions Regarding Autism Spectrum Disorder Genetic Testing. International Journal of Environmental Research and Public Health 18:6, pages 3323.
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Christine M. Freitag, Denise Haslinger, Afsheen Yousaf & Regina Waltes. (2020) Clinical genetic testing and counselling in autism spectrum disorder. Medizinische Genetik 32:1, pages 31-37.
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Bracha L. Kreiman & Richard G. Boles. (2020) State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians. Seminars in Pediatric Neurology 34, pages 100804.
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Lei Xu, Alice R. Richman, Linda C. Mitchell, Huabin Luo & Yong-hui Jiang. (2020) Factors Influencing Decisions About Prenatal Genetic Testing for Autism Among Mothers of Children with Autism Spectrum Disorders. Advances in Neurodevelopmental Disorders 4:2, pages 190-198.
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Afiqah Yusuf, Iskra Peltekova, Tal Savion-Lemieux, Jennifer Frei, Ruth Bruno, Ridha Joober, Jennifer Howe, Stephen W. Scherer & Mayada Elsabbagh. (2020) Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning. Research in Developmental Disabilities 100, pages 103605.
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Wei-Ju Chen, Shixi Zhao, Tse-Yang Huang, Oi-Man Kwok & Lei-Shih Chen. (2020) Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children. International Journal of Environmental Research and Public Health 17:2, pages 476.
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Susan L. HymanSusan E. Levy, Scott M. Myers, Dennis Z. Kuo, Susan Apkon, Lynn F. Davidson, Kathryn A. Ellerbeck, Jessica E.A. Foster, Garey H. Noritz, Mary O’Connor Leppert, Barbara S. Saunders, Christopher Stille, Larry Yin, Carol C. Weitzman, David Omer ChildersJrJr, Jack M. Levine, Ada Myriam Peralta-Carcelen, Jennifer K. Poon, Peter J. Smith, Nathan Jon Blum, John Ichiro Takayama, Rebecca Baum, Robert G. Voigt & Carolyn Bridgemohan. (2020) Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics 145:1.
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Leila Mobasheri, Seyedeh Zahra Moossavi, Aliakbar Esmaeili, Milad Mohammadoo-khorasani & Gholamreza Anani Sarab. (2020) Association between vitamin D receptor gene FokI and TaqI variants with autism spectrum disorder predisposition in Iranian population. Gene 723, pages 144133.
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Victor G. O. Evangelho, Helena C. Castro & Marcia R. Amorim. (2019) Genetic Tests for Autism: The Challenges in the Laboratory Diagnosis. Journal of Child Neurology 34:11, pages 692-693.
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Lourdes Martorell, Annabel Sanfeliu, Ana Blázquez, Elia Lojo, Maria José Cortés, Joan de Pablo & Elisabet Vilella. (2019) Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users. Molecular Genetics & Genomic Medicine 7:8.
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Harsha Ganesan, Venkatesh Balasubramanian, Mahalaxmi Iyer, Anila Venugopal, Mohana Devi Subramaniam, Ssang-Goo Cho & Balachandar Vellingiri. (2019) mTOR signalling pathway - A root cause for idiopathic autism?. BMB Reports 52:7, pages 424-433.
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Shasha Long, Hao Zhou, Shuang Li, Tianqi Wang, Yu Ma, Chunpei Li, Yuanfeng Zhou, Shuizhen Zhou, Bingbing Wu & Yi Wang. (2019) The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in Neurology 10.
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Martine W. Tremblay & Yong-hui Jiang. (2019) DNA Methylation and Susceptibility to Autism Spectrum Disorder. Annual Review of Medicine 70:1, pages 151-166.
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Liming Shen, Yuxi Zhao, Huajie Zhang, Chengyun Feng, Yan Gao, Danqing Zhao, Sijian Xia, Qi Hong, Javed Iqbal, Xu Kun Liu & Fang Yao. 2019. Reviews on Biomarker Studies in Psychiatric and Neurodegenerative Disorders. Reviews on Biomarker Studies in Psychiatric and Neurodegenerative Disorders 207 233 .
Lei Xu, Linda C. Mitchell, Alice R. Richman, Huabin Luo, Yonghui Jiang, Amanda L. Driggers & Augustus E. Floyd. (2018) Parental Knowledge and Perceptions of Pediatric Genomic Testing for Autism Spectrum Disorders in Rural Settings. Advances in Neurodevelopmental Disorders 2:4, pages 402-411.
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Alyson E. Hanish, Marlene Z. Cohen & Lois J. Starr. (2018) Autism spectrum disorder and genetic testing: Parental perceptions and decision-making. Journal for Specialists in Pediatric Nursing 23:2, pages e12211.
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Scott M. Myers & Thomas D. Challman. 2018. Developmental and Behavioral Pediatrics. Developmental and Behavioral Pediatrics.
Nicholas Szoko, Adam J. McShane & Marvin R. Natowicz. (2017) Proteomic explorations of autism spectrum disorder. Autism Research 10:9, pages 1460-1469.
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T. V. Khramova, Anna L. Kaysheva, Y. D. Ivanov, T. O. Pleshakova, I. Y. Iourov, S. G. Vorsanova, Y. B. Yurov, A. A. Schetkin & A. I. Archakov. (2017) Serologic Markers of Autism Spectrum Disorder. Journal of Molecular Neuroscience 62:3-4, pages 420-429.
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Eileen Haebig & Audra Sterling. (2016) Investigating the Receptive-Expressive Vocabulary Profile in Children with Idiopathic ASD and Comorbid ASD and Fragile X Syndrome. Journal of Autism and Developmental Disorders 47:2, pages 260-274.
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Augustus E Floyd & Lei Xu. (2017) Can genetic research motivate parents to pursue genomic testing for children with autism spectrum disorder?. Journal of Autism 4:1, pages 4.
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Gabrielle Bertier, Jian Carrot-Zhang, Vassilis Ragoussis & Yann Joly. (2016) Integrating precision cancer medicine into healthcare—policy, practice, and research challenges. Genome Medicine 8:1.
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Gabrielle Bertier, Martin Hétu & Yann Joly. (2016) Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views. BMC Medical Genomics 9:1.
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Frida Simonstein & Michal Mashiach-Eizenberg. (2016) Attitudes Toward Autism Spectrum Disorders Among Students of Allied Health Professions. Journal of Genetic Counseling 25:6, pages 1276-1285.
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Heejeong Yoo. (2015) Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications. Experimental Neurobiology 24:4, pages 257-272.
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Alexandra L. Bey & Yong‐hui Jiang. (2014) Overview of Mouse Models of Autism Spectrum Disorders. Current Protocols in Pharmacology 66:1.
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