Pellecchia, Giovanna

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 969

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 844

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 557

Whole-genome sequencing of quartet families with autism spectrum disorder

Yuen, R. K. C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., Chrysler, C., Nalpathamkalam, T., Pellecchia, G., Liu, Y., et al. (2015) · Nature Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 514

Increased striatal dopamine release in Parkinsonian patients with pathological gambling: a [11C] raclopride PET study

Steeves, T. D. L., Miyasaki, J., Zurowski, M., Lang, A. E., Pellecchia, G., Van Eimeren, T., Rusjan, P., Houle, S., & Strafella, A. P. (2009) · Brain

Gambling Behavior and TreatmentsParkinson's Disease Mechanisms and Treatments

Cited by 502

Genome-wide detection of tandem DNA repeats that are expanded in autism

Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 238

Genome-wide characteristics of de novo mutations in autism

Yuen, R. K., Merico, D., Cao, H., Pellecchia, G., Alipanahi, B., Thiruvahindrapuram, B., Tong, X., Sun, Y., Cao, D., Zhang, T., et al. (2016) · npj Genomic Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 216

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

Trost, B., Walker, S., Wang, Z., Thiruvahindrapuram, B., MacDonald, J. R., Sung, W. W. L., Pereira, S. L., Whitney, J., Chan, A. J. S., Pellecchia, G., et al. (2018) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 191

A large data resource of genomic copy number variation across neurodevelopmental disorders

Zarrei, M., Burton, C. L., Engchuan, W., Young, E. J., Higginbotham, E. J., MacDonald, J. R., Trost, B., Chan, A. J. S., Walker, S., Lamoureux, S., et al. (2019) · npj Genomic Medicine

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 187

Continuous theta burst stimulation of right dorsolateral prefrontal cortex induces changes in impulsivity level

Cho, S. S., Ko, J. H., Pellecchia, G., Van Eimeren, T., Cilia, R., & Strafella, A. P. (2010) · Brain Stimulation

Transcranial Magnetic Stimulation StudiesNeural and Behavioral Psychology Studies

Cited by 179

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Uddin, M., Tammimies, K., Pellecchia, G., Alipanahi, B., Hu, P., Wang, Z., Pinto, D., Lau, L., Nalpathamkalam, T., Marshall, C. R., et al. (2014) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 163

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., et al. (2014) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 163

Complete disruption of autism-susceptibility genes by gene editing predominantly reduces functional connectivity of isogenic human neurons

Deneault, E., White, S. H., Rodrigues, D. C., Ross, P. J., Faheem, M., Zaslavsky, K., Wang, Z., Alexandrova, R., Pellecchia, G., Wei, W., et al. (2018) · Stem Cell Reports

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 145

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Uddin, M., Woodbury-Smith, M., Chan, A., Brunga, L., Lamoureux, S., Pellecchia, G., Yuen, R. K. C., Faheem, M., Stavropoulos, D. J., Drake, J., et al. (2017) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 57

Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences

Manshaei, R., Merico, D., Reuter, M. S., Engchuan, W., Mojarad, B. A., Chaturvedi, R., Heung, T., Pellecchia, G., Zarrei, M., Nalpathamkalam, T., et al. (2020) · Frontiers in Genetics

Genomics and Rare DiseasesCongenital heart defects research

Cited by 36