Klei, Lambertus

Synaptic, transcriptional and chromatin genes disrupted in autism

Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Identification of common genetic risk variants for autism spectrum disorder

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Grove, J., BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., et al. (2019) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2018) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,321

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 2,013

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 1,430

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 1,421

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Lee, P. H., Anttila, V., Won, H., Feng, Y.-C. A., Rosenthal, J., Zhu, Z., Tucker-Drob, E. M., Nivard, M. G., Grotzinger, A. D., Posthuma, D., et al. (2019) · Cell

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 1,381

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Cited by 1,263

Most genetic risk for autism resides with common variation

Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., Lee, A. B., Mahajan, M., Manaa, D., Pawitan, Y., Reichert, J., et al. (2014) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 1,239

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

Gandal, M. J., Haney, J. R., Parikshak, N. N., Leppa, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2018) · Science

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 1,095

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Fromer, M., Roussos, P., Sieberts, S. K., Johnson, J. S., Kavanagh, D. H., Perumal, T. M., Ruderfer, D. M., Oh, E. C., Topol, A., Shah, H. R., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 1,091

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

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

Willsey, A. J., Sanders, S. J., Li, M., Dong, S., Tebbenkamp, A. T., Muhle, R. A., Reilly, S. K., Lin, L., Fertuzinhos, S., Miller, J. A., et al. (2013) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 934

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

PSP Genetics Study Group, Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L.-S., Klei, L., Rademakers, R., de Silva, R., Litvan, I., et al. (2011) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 603

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 593

Common genetic variants, acting additively, are a major source of risk for autism

Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., et al. (2012) · Molecular Autism

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 418

Individual common variants exert weak effects on the risk for autism spectrum disorders

Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 375

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

Cotney, J., Muhle, R. A., Sanders, S. J., Liu, L., Willsey, A. J., Niu, W., Liu, W., Klei, L., Lei, J., Yin, J., et al. (2015) · Nature Communications

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

Sieberts, S. K., Perumal, T. M., Carrasquillo, M. M., Allen, M., Reddy, J. S., Hoffman, G. E., Dang, K. K., Calley, J., Ebert, P. J., Eddy, J., et al. (2020) · Scientific Data

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 318

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

An, J.-Y., Lin, K., Zhu, L., Werling, D. M., Dong, S., Brand, H., Wang, H. Z., Zhao, X., Schwartz, G. B., Collins, R. L., et al. (2018) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 316

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Werling, D. M., Brand, H., An, J.-Y., Stone, M. R., Zhu, L., Glessner, J. T., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E., et al. (2018) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 293

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

Luo, R., Sanders, S. J., Tian, Y., Voineagu, I., Huang, N., Chu, S. H., Klei, L., Cai, C., Ou, J., Lowe, J. K., et al. (2012) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 167