Refining analyses of copy number variation identifies specific genes associated with developmental delay

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

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A genomic mutational constraint map using variation in 76,156 human genomes

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

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Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

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Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia

Rees, E., Kendall, K., Pardiñas, A. F., Legge, S. E., Pocklington, A., Escott-Price, V., MacCabe, J. H., Collier, D. A., Holmans, P., O’Donovan, M. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.1831 · Cited by 162 · see citing works

Long-Read DNA Sequencing: Recent Advances and Remaining Challenges

Warburton, P. E., & Sebra, R. P. (2023) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-101722-103045 · Cited by 163 · see citing works

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Basak, A., Hancarova, M., Ulirsch, J. C., Balci, T. B., Trkova, M., Pelisek, M., Vlckova, M., Muzikova, K., Cermak, J., Trka, J., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci81163 · Cited by 147 · see citing works

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.008 · Cited by 143 · see citing works

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 · doi:10.1186/s13073-017-0498-x · Cited by 144 · see citing works

Association of Rare Copy Number Variants With Risk of Depression

Kendall, K. M., Rees, E., Bracher-Smith, M., Legge, S., Riglin, L., Zammit, S., O’Donovan, M. C., Owen, M. J., Jones, I., Kirov, G., et al. (2019) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2019.0566 · Cited by 144 · see citing works

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

Witteveen, J. S., Willemsen, M. H., Dombroski, T. C. D., van Bakel, N. H. M., Nillesen, W. M., van Hulten, J. A., Jansen, E. J. R., Verkaik, D., Veenstra-Knol, H. E., van Ravenswaaij-Arts, C. M. A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3619 · Cited by 128 · see citing works

Frequency and complexity of de novo structural mutation in autism

Brandler, W. M., Antaki, D., Gujral, M., Noor, A., Rosanio, G., Chapman, T. R., Barrera, D. J., Lin, G. N., Malhotra, D., Watts, A. C., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.018 · Cited by 104 · see citing works

Measuring and estimating the effect sizes of copy number variants on general intelligence in community-based samples

Huguet, G., Schramm, C., Douard, E., Jiang, L., Labbe, A., Tihy, F., Mathonnet, G., Nizard, S., Lemyre, E., Mathieu, A., et al. (2018) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2018.0039 · Cited by 96 · see citing works

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Study, D. (. D. I. S. A. C., Liu, J., Zhou, Y., Liu, S., Song, X., Yang, X.-Z., Fan, Y., Chen, W., Akdemir, Z. C., Yan, Z., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1910-3 · Cited by 77 · see citing works

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105879 · Cited by 75 · see citing works

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) · doi:10.1101/484113 · Cited by 2,323 · see citing works

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 · doi:10.1101/gr.277334.122 · Cited by 58 · see citing works

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2019) · doi:10.1101/797787 · Cited by 36 · see citing works

Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Lowther, C., Costain, G., Baribeau, D. A., & Bassett, A. S. (2017) · Current Psychiatry Reports · doi:10.1007/s11920-017-0831-5 · Cited by 41 · see citing works

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 · doi:10.1101/gr.211284.116 · Cited by 42 · see citing works

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) · doi:10.1101/2019.12.30.891549 · Cited by 33 · see citing works

<scp><i>MYT1L</i></scp>: A systematic review of genetic variation encompassing schizophrenia and autism

Mansfield, P., Constantino, J. N., & Baldridge, D. (2020) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32781 · Cited by 27 · see citing works

Molecular subtyping and improved treatment of neurodevelopmental disease

Stessman, H. A. F., Turner, T. N., & Eichler, E. E. (2016) · Genome Medicine · doi:10.1186/s13073-016-0278-z · Cited by 25 · see citing works

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity

Courage, C., Houge, G., Gallati, S., Schjelderup, J., & Rieubland, C. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.06.003 · Cited by 24 · see citing works

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Halgren, C., Kjaergaard, S., Bak, M., Hansen, C. S., El-Schich, Z., Anderson, C., Henriksen, K. F., Hjalgrim, H., Kirchhoff, M., Bijlsma, E. K., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01755.x · Cited by 144 · see citing works

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

Fannemel, M., Barøy, T., Holmgren, A., Rødningen, O. K., Haugsand, T. M., Hansen, B., Frengen, E., & Misceo, D. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.05.008 · Cited by 62 · see citing works

Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay

Malli, T., Duba, H., Erdel, M., Marschon, R., Kranewitter, W. J., Deutschbauer, S., Kralik, J. M., Diel, E., Güenther, B., Mueller, D., et al. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36738 · Cited by 14 · see citing works

Haploinsufficiency

Read, A. (2017) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0005489.pub2 · Cited by 2 · see citing works