Eichler, Evan E.

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Wilfert, A. B., Sulovari, A., Turner, T. N., Coe, B. P., & Eichler, E. E. (2017) · Genome Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 144

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

Eichler, E. (1997) · Human Molecular Genetics

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 143

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Korvatska, O., Strand, N. S., Berndt, J. D., Strovas, T., Chen, D.-H., Leverenz, J. B., Kiianitsa, K., Mata, I. F., Karakoc, E., Greenup, J. L., et al. (2013) · Human Molecular Genetics

Parkinson's Disease Mechanisms and TreatmentsRNA Research and Splicing

Cited by 140

Recombination between heterologous human acrocentric chromosomes

Guarracino, A., Buonaiuto, S., de Lima, L. G., Potapova, T., Rhie, A., Koren, S., Rubinstein, B., Fischer, C., Human Pangenome Reference Consortium, Abel, H. J., et al. (2023) · Nature

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 134

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Zhao, X., Collins, R. L., Lee, W.-P., Weber, A. M., Jun, Y., Zhu, Q., Weisburd, B., Huang, Y., Audano, P. A., Wang, H., et al. (2021) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Houge, G., Haesen, D., Vissers, L. E. L. M., Mehta, S., Parker, M. J., Wright, M., Vogt, J., McKee, S., Tolmie, J. L., Cordeiro, N., et al. (2015) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersProtein Tyrosine Phosphatases

Cited by 124

Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation

Fiddes, I. T., Armstrong, J., Diekhans, M., Nachtweide, S., Kronenberg, Z. N., Underwood, J. G., Gordon, D., Earl, D., Keane, T., Eichler, E. E., et al. (2018) · Genome Research

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 120

Transmission Disequilibrium of Small CNVs in Simplex Autism

Krumm, N., O’Roak, B. J., Karakoc, E., Mohajeri, K., Nelson, B., Vives, L., Jacquemont, S., Munson, J., Bernier, R., & Eichler, E. E. (2013) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 113

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 110

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Lamb, A. N., Rosenfeld, J. A., Neill, N. J., Talkowski, M. E., Blumenthal, I., Girirajan, S., Keelean-Fuller, D., Fan, Z., Pouncey, J., Stevens, C., et al. (2012) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 107

Increased mutation and gene conversion within human segmental duplications

Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 104

Lineage-Specific Expansions of Retroviral Insertions within the Genomes of African Great Apes but Not Humans and Orangutans

Yohn, C. T., Jiang, Z., McGrath, S. D., Hayden, K. E., Khaitovich, P., Johnson, M. E., Eichler, M. Y., McPherson, J. D., Zhao, S., Pääbo, S., et al. (2005) · PLoS Biology

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 104

Epigenetics of Autism-related Impairment: Copy Number Variation and Maternal Infection

Mazina, V., Gerdts, J., Trinh, S., Ankenman, K., Ward, T., Dennis, M. Y., Girirajan, S., Eichler, E. E., & Bernier, R. (2015) · Journal of Developmental & Behavioral Pediatrics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 101

Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia

Tucci, S., Vohr, S. H., McCoy, R. C., Vernot, B., Robinson, M. R., Barbieri, C., Nelson, B. J., Fu, W., Purnomo, G. A., Sudoyo, H., et al. (2018) · Science

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 97

Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis

Mefford, H. C., Shafer, N., Antonacci, F., Tsai, J. M., Park, S. S., Hing, A. V., Rieder, M. J., Smyth, M. D., Speltz, M. L., Eichler, E. E., et al. (2010) · American Journal of Medical Genetics Part A

Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

Cited by 78

Structurally divergent and recurrently mutated regions of primate genomes

Mao, Y., Harvey, W. T., Porubsky, D., Munson, K. M., Hoekzema, K., Lewis, A. P., Audano, P. A., Rozanski, A., Yang, X., Zhang, S., et al. (2023) · Cell

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 73

Recurrent inversion toggling and great ape genome evolution

Porubsky, D., Sanders, A. D., Höps, W., Hsieh, P., Sulovari, A., Li, R., Mercuri, L., Sorensen, M., Murali, S. C., Gordon, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 72

TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function

Okhovat, M., VanCampen, J., Nevonen, K. A., Harshman, L., Li, W., Layman, C. E., Ward, S., Herrera, J., Wells, J., Sheng, R. R., et al. (2023) · Nature Communications

Genomics and Chromatin DynamicsChromosomal and Genetic Variations

Cited by 68

Gaps and complex structurally variant loci in phased genome assemblies

Porubsky, D., Vollger, M. R., Harvey, W. T., Rozanski, A. N., Ebert, P., Hickey, G., Hasenfeld, P., Sanders, A. D., Stober, C., Human Pangenome Reference Consortium, et al. (2023) · Genome Research

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 58

Comparative genomics of macaques and integrated insights into genetic variation and population history

Zhang, S., Xu, N., Fu, L., Yang, X., Li, Y., Yang, Z., Feng, Y., Ma, K., Jiang, X., Han, J., et al. (2024) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 48

Integrated analysis of the complete sequence of a macaque genome

Zhang, S., Xu, N., Fu, L., Yang, X., Ma, K., Li, Y., Yang, Z., Li, Z., Feng, Y., Jiang, X., et al. (2025) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 48

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

Mohajeri, K., Cantsilieris, S., Huddleston, J., Nelson, B. J., Coe, B. P., Campbell, C. D., Baker, C., Harshman, L., Munson, K. M., Kronenberg, Z. N., et al. (2016) · Genome Research

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 42

The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

Ventura, M., Catacchio, C. R., Sajjadian, S., Vives, L., Sudmant, P. H., Marques-Bonet, T., Graves, T. A., Wilson, R. K., & Eichler, E. E. (2012) · Genome Research

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 42