Eichler, Evan E.

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Morris, D. W., Pearson, R. D., Cormican, P., Kenny, E. M., O'Dushlaine, C. T., Perreault, L.-P. L., Giannoulatou, E., Tropea, D., Maher, B. S., Wormley, B., et al. (2014) · Human Molecular Genetics

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., et al. (2023) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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Single cell epigenomic atlas of the developing human brain and organoids

Ziffra, R. S., Kim, C. N., Wilfert, A., Turner, T. N., Haeussler, M., Casella, A. M., Przytycki, P. F., Kreimer, A., Pollard, K. S., Ament, S. A., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Single-cell and spatial transcriptomicsGenomics and Chromatin Dynamics

Cited by 33

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers

Hudac, C. M., Bove, J., Barber, S., Duyzend, M., Wallace, A., Martin, C. L., Ledbetter, D. H., Hanson, E., Goin‐Kochel, R. P., Green‐Snyder, L., et al. (2020) · Autism Research

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 31

Molecular subtyping and improved treatment of neurodevelopmental disease

Stessman, H. A. F., Turner, T. N., & Eichler, E. E. (2016) · Genome Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 25

Structural variation across 138,134 samples in the TOPMed consortium

Jun, G., English, A., Metcalf, G., Yang, J., Chaisson, M., Pankratz, N., Menon, V., Salerno, W., Krasheninina, O., Smith, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 24

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 19

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2012) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 15

Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans

Guitart, X., Porubsky, D., Yoo, D., Dougherty, M. L., Dishuck, P. C., Munson, K. M., Lewis, A. P., Hoekzema, K., Knuth, J., Chang, S., et al. (2024) · Genome Research

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 14

Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

Guitart, X., Porubsky, D., Yoo, D., Dougherty, M. L., Dishuck, P. C., Munson, K. M., Lewis, A. P., Hoekzema, K., Knuth, J., Chang, S., et al. (2024) · Genome Research

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 14

Longitudinal report of child with de novo 16p11.2 triplication

Wallace, A. S., Hudac, C. M., Steinman, K. J., Peterson, J. L., DesChamps, T. D., Duyzend, M. H., Nuttle, X., Eichler, E. E., & Bernier, R. A. (2018) · Clinical Case Reports

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 9

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T.-C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., et al. (2025) · Nature Communications

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

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