Shen, Yiping

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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Disruption of neurexin 1 associated with autism spectrum disorder

Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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The Human Phenotype Ontology in 2024: phenotypes around the world

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., et al. (2024) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

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Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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Somatic mutations in cerebral cortical malformations

Jamuar, S. S., Lam, A.-T. N., Kircher, M., D’Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., et al. (2014) · New England Journal of Medicine

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

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Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta‐Analysis

Pu, D., Shen, Y., & Wu, J. (2013) · Autism Research

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Establishment of Patient-Derived Tumor Xenograft Models of Epithelial Ovarian Cancer for Preclinical Evaluation of Novel Therapeutics

Liu, J. F., Palakurthi, S., Zeng, Q., Zhou, S., Ivanova, E., Huang, W., Zervantonakis, I. K., Selfors, L. M., Shen, Y., Pritchard, C. C., et al. (2017) · Clinical Cancer Research

Ovarian cancer diagnosis and treatmentBRCA gene mutations in cancer

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Cognitive and behavioral characterization of 16p11.2 deletion syndrome

Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., Wu, B.-L., Holm, I. A., & Miller, D. T. (2010) · Journal of Developmental & Behavioral Pediatrics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Geng, J., Picker, J., Zheng, Z., Zhang, X., Wang, J., Hisama, F., Brown, D. W., Mullen, M. P., Harris, D., Stoler, J., et al. (2014) · BMC Genomics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

Fu, C., Luo, S., Li, Y., Li, Q., Hu, X., Li, M., Zhang, Y., Su, J., Hu, X., Chen, Y., et al. (2017) · Endocrine Connections

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

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Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review

Zhao, A., Zhou, R., Gu, Q., Liu, M., Zhang, B., Huang, J., Yang, B., Yao, R., Wang, J., Lv, H., et al. (2021) · Clinica Chimica Acta

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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A pilot study on the diagnostic performance of DMS-IV and DMS-V for autism spectrum disorder

You, Y., Departments of Laboratory Medicine and Pathology, C. H. B., Wu, B.-L., Departments of Laboratory Medicine and Pathology, C. H. B., Shen, Y., & Departments of Laboratory Medicine and Pathology, C. H. B. (2011) · American Chinese Journal of Medicine and Science

Autism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

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