Eichler, Evan E.

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

O'Roak, B. J., Stessman, H. A., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., et al. (2014) · Nature Communications

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Long-read sequence assembly of the gorilla genome

Gordon, D., Huddleston, J., Chaisson, M. J. P., Hill, C. M., Kronenberg, Z. N., Munson, K. M., Malig, M., Raja, A., Fiddes, I., Hillier, L. W., et al. (2016) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Coe, B. P., Stessman, H. A. F., Sulovari, A., Geisheker, M. R., Bakken, T. E., Lake, A. M., Dougherty, J. D., Lein, E. S., Hormozdiari, F., Bernier, R. A., et al. (2019) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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De novo rates and selection of large copy number variation

Itsara, A., Wu, H., Smith, J. D., Nickerson, D. A., Romieu, I., London, S. J., & Eichler, E. E. (2010) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution

Smith, J. J., Timoshevskaya, N., Ye, C., Holt, C., Keinath, M. C., Parker, H. J., Cook, M. E., Hess, J. E., Narum, S. R., Lamanna, F., et al. (2018) · Nature Genetics

Chromosomal and Genetic VariationsGenomics and Phylogenetic Studies

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Epigenetic patterns in a complete human genome

Gershman, A., Sauria, M. E. G., Guitart, X., Vollger, M. R., Hook, P. W., Hoyt, S. J., Jain, M., Shumate, A., Razaghi, R., Koren, S., et al. (2022) · Science

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T., McMahon, J. M., Schneider, A. L., Petrovski, S., Allen, A. S., Carvill, G. L., Zemel, M., Saykally, J. E., LaCroix, A. J., Heinzen, E. L., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenomics and Rare Diseases

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Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Ebler, J., Ebert, P., Clarke, W. E., Rausch, T., Audano, P. A., Houwaart, T., Mao, Y., Korbel, J. O., Eichler, E. E., Zody, M. C., et al. (2022) · Nature Genetics

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

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Low copy number of the salivary amylase gene predisposes to obesity

Falchi, M., El-Sayed Moustafa, J. S., Takousis, P., Pesce, F., Bonnefond, A., Andersson-Assarsson, J. C., Sudmant, P. H., Dorajoo, R., Al-Shafai, M. N., Bottolo, L., et al. (2014) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

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The discovery of integrated gene networks for autism and related disorders

Hormozdiari, F., Penn, O., Borenstein, E., & Eichler, E. E. (2015) · Genome Research

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Rare copy number variants are an important cause of epileptic encephalopathies

Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

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Evolutionary toggling of the MAPT 17q21.31 inversion region

Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

Chai, J.-H., Locke, D. P., Greally, J. M., Knoll, J. H. M., Ohta, T., Dunai, J., Yavor, A., Eichler, E. E., & Nicholls, R. D. (2003) · The American Journal of Human Genetics

Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities

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Estimating the human mutation rate using autozygosity in a founder population.

Campbell, C. D., Chong, J. X., Malig, M., Ko, A., Dumont, B. L., Han, L., Vives, L., O'Roak, B. J., Sudmant, P. H., Shendure, J., et al. (2012) · Nature Genetics

Genomics and Rare DiseasesEvolution and Genetic Dynamics

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Semi-automated assembly of high-quality diploid human reference genomes

Jarvis, E. D., Formenti, G., Rhie, A., Guarracino, A., Yang, C., Wood, J., Tracey, A., Thibaud-Nissen, F., Vollger, M. R., Porubsky, D., et al. (2022) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

Rosenfeld, J. A., Coppinger, J., Bejjani, B. A., Girirajan, S., Eichler, E. E., Shaffer, L. G., & Ballif, B. C. (2010) · Journal of Neurodevelopmental Disorders

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M. H., Kumar, R., Bosco, P., et al. (2016) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

Human Genome Structural Variation Consortium, Porubsky, D., Ebert, P., Audano, P. A., Vollger, M. R., Harvey, W. T., Marijon, P., Ebler, J., Munson, K. M., Sorensen, M., et al. (2021) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Insufficient Evidence for “Autism-Specific” Genes

Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics

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The evolution and population diversity of human-specific segmental duplications

Dennis, M. Y., Harshman, L., Nelson, B. J., Penn, O., Cantsilieris, S., Huddleston, J., Antonacci, F., Penewit, K., Denman, L., Raja, A., et al. (2017) · Nature Ecology & Evolution

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

Turner, T. N., Wilfert, A. B., Bakken, T. E., Bernier, R. A., Pepper, M. R., Zhang, Z., Torene, R. I., Retterer, K., & Eichler, E. E. (2019) · The American Journal of Human Genetics

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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Guo, H., Wang, T., Wu, H., Long, M., Coe, B. P., Li, H., Xun, G., Ou, J., Chen, B., Duan, G., et al. (2018) · Molecular Autism

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Prioritization of neurodevelopmental disease genes by discovery of new mutations

Hoischen, A., Krumm, N., & Eichler, E. E. (2014) · Nature Neuroscience

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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