The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Open accessAbstract
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
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A large survey of balanced chromosomal abnormalities in congenital anomaly patients found TAD disruption around known syndrome-linked loci in 7.3% of cases.
“A large-scale survey of balanced chromosomal abnormalities in patients with congenital anomalies revealed disruption of TADs encompassing known syndrome-linked loci in 7.3% of cases 65 ,”
From Advances in epigenetics link genetics to the environment and disease (2019) · cites this paper as [65]
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Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works
Self-citationCircos: An information aesthetic for comparative genomicsPreprint
Krzywinski, M. I., Schein, J. E., Birol, İ., Connors, J. M., Gascoyne, R. D., Horsman, D. E., Jones, S. J. M., & Marra, M. A. (2009) · Genome Research · doi:10.1101/gr.092759.109 · Cited by 10,838 · see citing works
A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
Rao, S. S. P., Huntley, M. H., Durand, N. C., Stamenova, E. K., Bochkov, I. D., Robinson, J. T., Sanborn, A. L., Machol, I., Omer, A. D., Lander, E. S., et al. (2014) · Cell · doi:10.1016/j.cell.2014.11.021 · Cited by 9,212 · see citing works
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,949 · see citing works
Topological domains in mammalian genomes identified by analysis of chromatin interactions
Dixon, J. R., Selvaraj, S., Yue, F., Kim, A., Li, Y., Shen, Y., Hu, M., Liu, J. S., & Ren, B. (2012) · Nature · doi:10.1038/nature11082 · Cited by 6,829 · see citing works
Landscape of transcription in human cells
Djebali, S., Davis, C. A., Merkel, A., Dobin, A., Lassmann, T., Mortazavi, A., Tanzer, A., Lagarde, J., Lin, W., Schlesinger, F., et al. (2012) · Nature · doi:10.1038/nature11233 · Cited by 5,187 · see citing works
An anatomically comprehensive atlas of the adult human brain transcriptome
Hawrylycz, M. J., Lein, E. S., Guillozet-Bongaarts, A. L., Shen, E. H., Ng, L., Miller, J. A., van de Lagemaat, L. N., Smith, K. A., Ebbert, A., Riley, Z. L., et al. (2012) · Nature · doi:10.1038/nature11405 · Cited by 3,083 · see citing works
ClinVar: public archive of interpretations of clinically relevant variants
Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1222 · Cited by 2,758 · see citing works
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 · doi:10.1038/nature13772 · Cited by 2,746 · see citing works
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585 · see citing works
An atlas of active enhancers across human cell types and tissues
The FANTOM Consortium, Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., et al. (2014) · Nature · doi:10.1038/nature12787 · Cited by 2,550 · see citing works
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414 · see citing works
Sambamba: fast processing of NGS alignment formats
Tarasov, A., Vilella, A. J., Cuppen, E. P. J. G., Nijman, I. J., & Prins, P. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv098 · Cited by 2,339 · see citing works
Self-citationJuicebox Provides a Visualization System for Hi-C Contact Maps with Unlimited Zoom
Durand, N. C., Robinson, J., Shamim, M. S., Machol, I., Mesirov, J. P., Lander, E. S., & Aiden, E. L. (2016) · Cell Systems · doi:10.1016/j.cels.2015.07.012 · Cited by 2,335 · see citing works
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Lupiáñez, D. G., Kraft, K., Heinrich, V., Krawitz, P., Brancati, F., Klopocki, E., Horn, D., Kayserili, H., Opitz, J. M., Laxova, R., et al. (2015) · Cell · doi:10.1016/j.cell.2015.04.004 · Cited by 2,132 · see citing works
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
De novo mutations in schizophrenia implicate synaptic networks
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature · doi:10.1038/nature12929 · Cited by 1,617 · see citing works
Self-citationDe Novo Gene Disruptions in Children on the Autistic Spectrum
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works
A polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385 · see citing works
Punctuated Evolution of Prostate Cancer Genomes
Baca, S. C., Prandi, D., Lawrence, M. S., Mosquera, J. M., Romanel, A., Drier, Y., Park, K., Kitabayashi, N., MacDonald, T. Y., Ghandi, M., et al. (2013) · Cell · doi:10.1016/j.cell.2013.03.021 · Cited by 1,300 · see citing works
A high-resolution map of the three-dimensional chromatin interactome in human cells
Jin, F., Li, Y., Dixon, J. R., Selvaraj, S., Ye, Z., Lee, A. Y., Yen, C.-A., Schmitt, A. D., Espinoza, C. A., & Ren, B. (2013) · Nature · doi:10.1038/nature12644 · Cited by 1,208 · see citing works
Nielsen, J., & Wohlert, M. (1991) · Human Genetics · doi:10.1007/bf01213097 · Cited by 1,193 · see citing works
A framework for the interpretation of de novo mutation in human disease
Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979 · see citing works
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Petrovski, S., Wang, Q., Heinzen, E. L., Allen, A. S., & Goldstein, D. B. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003709 · Cited by 901 · see citing works
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Köhler, S., Doelken, S., Mungall, C. J., Bauer, S., Firth, H., Bailleul-Forestier, I., Black, G., Brown, D. L., Brudno, M., Campbell, J., et al. (2013) · Nucleic Acids Res. · doi:10.1093/nar/gkt1026 · Cited by 840 · see citing works
Self-citationResolving the complexity of the human genome using single-molecule sequencing
Chaisson, M., Huddleston, J., Dennis, M. Y., Sudmant, P. H., Malig, M., Hormozdiari, F., Antonacci, F., Surti, U., Sandstrom, R. S., Boitano, M., et al. (2014) · Nature · doi:10.1038/nature13907 · Cited by 783 · see citing works
FMRP targets distinct mRNA sequence elements to regulate protein expression
Ascano, M., Mukherjee, N., Bandaru, P., Miller, J. B., Nusbaum, J. D., Corcoran, D. L., Langlois, C., Munschauer, M., Dewell, S., Hafner, M., et al. (2012) · Nature · doi:10.1038/nature11737 · Cited by 701 · see citing works
Warburton, D. (1991) · PubMed · Cited by 677 · see citing works
Self-citationFormation of new chromatin domains determines pathogenicity of genomic duplications
Franke, M., Ibrahim, D. M., Andrey, G., Schwarzer, W., Heinrich, V., Schöpflin, R., Kraft, K., Kempfer, R., Jerković, I., Chan, W.-L., et al. (2016) · Nature · doi:10.1038/nature19800 · Cited by 673 · see citing works
Phenotypic impact of genomic structural variation: insights from and for human disease
Weischenfeldt, J., Symmons, O., Spitz, F., & Korbel, J. O. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3373 · Cited by 648 · see citing works
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
Splawski, I., Timothy, K. W., Decher, N., Kumar, P., Sachse, F. B., Beggs, A. H., Sanguinetti, M. C., & Keating, M. T. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0502506102 · Cited by 624 · see citing works
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.003 · Cited by 590 · see citing works
Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.028 · Cited by 577 · see citing works
Self-citationZhang, F., Khajavi, M., Connolly, A. M., Towne, C. F., Batish, S. D., & Lupski, J. R. (2009) · Nature Genetics · doi:10.1038/ng.399 · Cited by 531 · see citing works
Breaking TADs: How Alterations of Chromatin Domains Result in Disease
Lupiáñez, D. G., Spielmann, M., & Mundlos, S. (2016) · Trends in Genetics · doi:10.1016/j.tig.2016.01.003 · Cited by 439 · see citing works
A cytogenetic survey of 11,680 newborn infants
Jacobs, P. A., Melville, M. M., Ratcliffe, S. G., Keay, A. J., & SYME, J. (1974) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1974.tb01843.x · Cited by 428 · see citing works
A Note on the Calculation of Empirical P Values from Monte Carlo Procedures
North, B. V., Curtis, D., & Sham, P. C. (2002) · The American Journal of Human Genetics · doi:10.1086/341527 · Cited by 426 · see citing works
Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A. C., Geneviève, D., Cormier‐Daire, V., Esch, H. V., Fryns, J., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505693 · Cited by 395 · see citing works
Self-citationGregori, M. D., Ciccone, R., Magini, P., Pramparo, T., Gimelli, S., Messa, J., Novara, F., Vetro, A., Rossi, E. G., Maraschio, P., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.052787 · Cited by 355 · see citing works
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 · doi:10.1038/ncomms7404 · Cited by 350 · see citing works
Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405266111 · Cited by 342 · see citing works
Self-citationChromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†
Kloosterman, W. P., Guryev, V., van Roosmalen, M. J., Duran, K. J., de Bruijn, E., Bakker, S. C. M., Letteboer, T. G. W., van Nesselrooij, B. P. M., Hochstenbach, R., Poot, M., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr073 · Cited by 320 · see citing works
Self-citationChiang, C., Jacobsen, J. C., Ernst, C., Hanscom, C., Heilbut, A. M., Blumenthal, I., Mills, R. E., Kirby, A. W., Lindgren, A. M., Rudiger, S. R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2202 · Cited by 252 · see citing works
Self-citationTalkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.011 · Cited by 249 · see citing works
Self-citationReconstructing complex regions of genomes using long-read sequencing technologyPreprint
Huddleston, J., Ranade, S., Malig, M., Antonacci, F., Chaisson, M., Hon, L., Sudmant, P. H., Graves, T., Alkan, C., Dennis, M. Y., et al. (2014) · Genome Research · doi:10.1101/gr.168450.113 · Cited by 236 · see citing works
Meur, N. L., Holder‐Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati‐Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069732 · Cited by 228 · see citing works
Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
Talkowski, M. E., Ordulu, Z., Pillalamarri, V., Benson, C. B., Blumenthal, I., Connolly, S. A., Hanscom, C., Hussain, N., Pereira, S., Picker, J. D., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1208594 · Cited by 195 · see citing works
Self-citationBrunetti‐Pierri, N., Paciorkowski, A. R., Ciccone, R., Mina, E. D., Bonaglia, M. C., Borgatti, R., Schaaf, C. P., Sutton, V. R., Xia, Z., Jelluma, N., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.142 · Cited by 190 · see citing works
Zweier, M., Gregor, A., Zweier, C., Engels, H., Sticht, H., Wohlleber, E., Bijlsma, E. K., Holder, S., Zenker, M., Rossier, E., et al. (2010) · Human Mutation · doi:10.1002/humu.21253 · Cited by 180 · see citing works
Talkowski, M. E., Ernst, C., Heilbut, A. M., Chiang, C., Hanscom, C., Lindgren, A. M., Kirby, A. W., Liu, S., Muddukrishna, B., Ohsumi, T. K., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.03.013 · Cited by 177 · see citing works
Self-citationAn informatics approach to analyzing the incidentalome
Berg, J., Adams, M. C., Nassar, N., Bizon, C., Lee, K., Schmitt, C., Wilhelmsen, K., & Evans, J. P. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.112 · Cited by 175 · see citing works
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
Rosenfeld, J. A., Ballif, B. C., Lucas, A. M., Spence, E. J., Powell, C. M., Aylsworth, A. S., Torchia, B. A., & Shaffer, L. G. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006568 · Cited by 174 · see citing works
Ravel, C., Berthaut, I., Bresson, J.-L., & Siffroi, J. P. (2006) · Human Reproduction · doi:10.1093/humrep/del024 · Cited by 167 · see citing works
Loss of δ-catenin function in severe autism
Turner, T. N., Sharma, K., Oh, E. C. T., Liu, Y. P., Collins, R. L., Sosa, M. X., Auer, D. R., Brand, H., Sanders, S., Moreno‐De‐Luca, D., et al. (2015) · Nature · doi:10.1038/nature14186 · Cited by 151 · see citing works
Self-citationHiggins, A. W., Alkuraya, F. S., Bosco, A. F., Brown, K. K., Bruns, G. A. P., Donovan, D., Eisenman, R. E., Fan, Y., Farra, C. G., Ferguson, H. L., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.011 · Cited by 148 · see citing works
Self-citationDeletions of chromosomal regulatory boundaries are associated with congenital disease
Ibn-Salem, J., Köhler, S., Love, M. I., Chung, H.-R., Huang, N., Hurles, M. E., Haendel, M., Washington, N. L., Smedley, D., Mungall, C. J., et al. (2014) · Genome Biology · doi:10.1186/s13059-014-0423-1 · Cited by 143 · see citing works
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
Cardoso, C., Boys, A., Parrini, E., Mignon‐Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi‐Pocachard, E., Missirian, C., Zuffardi, O., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000336339.08878.2d · Cited by 133 · see citing works
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects
Lu, W., Quintero‐Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D., Xi, Q. J., Turbé-Doan, A., Li, Q., Campbell, C., Shanske, A. L., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030080 · Cited by 128 · see citing works
Self-citationCancer Genomes Evolve by Pulverizing Single Chromosomes
Meyerson, M., & Pellman, D. (2011) · Cell · doi:10.1016/j.cell.2010.12.025 · Cited by 115 · see citing works
Mental retardation associated with "balanced" chromosome rearrangements.
Funderburk, S. J., Spence, M. A., & Sparkes, R. S. (1977) · Europe PMC (PubMed Central) · Cited by 114 · see citing works
Self-citationPetrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.011 · Cited by 114 · see citing works
Self-citationSchluth‐Bolard, C., Labalme, A., Cordier, M., Till, M., Nadeau, G., Tevissen, H., Lesca, G., Boutry‐Kryza, N., Rossignol, S., Rocas, D., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101351 · Cited by 112 · see citing works
Enhancer-adoption as a mechanism of human developmental disease
Lettice, L. A., Daniels, S. L., Sweeney, E., Venkataraman, S., Devenney, P. S., Gautier, P. E., Morrison, H., Fantes, J. A., Hill, R. E., & FitzPatrick, D. R. (2011) · Human Mutation · doi:10.1002/humu.21615 · Cited by 107 · see citing works
Self-citationEngels, H., Wohlleber, E., Zink, A. M., Hoyer, J., Ludwig, K. U., Brockschmidt, F. F., Wieczorek, D., Moog, U., Hellmann-Mersch, B., Weber, R. G., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.90 · Cited by 107 · see citing works
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
Abyzov, A., Li, S., Kim, D. R., Mohiyuddin, M., Stütz, A. M., Parrish, N. F., Mu, X. J., Clark, W., Chen, K., Hurles, M., et al. (2015) · Nature Communications · doi:10.1038/ncomms8256 · Cited by 91 · see citing works
Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders
Utami, K. H., Hillmer, A. M., Aksoy, I., Chew, E. G. Y., Teo, A. S. M., Zhang, Z., Lee, C. W. H., Chen, P. J., Seng, C. C., Ariyaratne, P. N., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0090852 · Cited by 84 · see citing works
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
Ellaway, C., Ho, G., Bettella, E., Knapman, A., Collins, F. A., Hackett, A., McKenzie, F., Darmanian, A., Peters, G. B., Fagan, K., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.208 · Cited by 77 · see citing works
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
Brand, H., Collins, R. L., Hanscom, C., Rosenfeld, J. A., Pillalamarri, V., Stone, M. R., Kelley, F., Mason, T., Margolin, L., Eggert, S., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.05.012 · Cited by 76 · see citing works
Self-citationThe morbid anatomy of the human genome: chromosomal location of mutations causing disease.
McKusick, V. A., & Amberger, J. S. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.1.1 · Cited by 76 · see citing works
Deng, Y., Gao, L., Wang, B., & Guo, X. (2015) · PLoS ONE · doi:10.1371/journal.pone.0115692 · Cited by 74 · see citing works
Tabet, A., Verloès, A., Pilorge, M., Delaby, E., Delorme, R., Nygren, G., Devillard, F., Gérard, M., Passemard, S., Héron, D., et al. (2015) · Molecular Autism · doi:10.1186/s13229-015-0015-2 · Cited by 71 · see citing works
Xia, F., Bainbridge, M. N., Tan, T. Y., Wangler, M. F., Scheuerle, A. E., Zackai, E. H., Harr, M. H., Sutton, V. R., Nalam, R. L., Zhu, W., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.04.006 · Cited by 70 · see citing works
Self-citationThe MEF2C-Related and 5q14.3q15 Microdeletion Syndrome
Zweier, M., & Rauch, A. M. (2011) · Molecular Syndromology · doi:10.1159/000337496 · Cited by 62 · see citing works
DeSanto, C. L., D׳Aco, K., Araujo, G. C., Shannon, N. L., Study, D., Vernon, H. J., Rahrig, A., Monaghan, K. G., Niu, Z., Vitazka, P., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103069 · Cited by 54 · see citing works
McDermott, S. M., Yang, L., Halstead, J. M., Hamilton, R. S., Meignin, C., & Davis, I. (2014) · RNA · doi:10.1261/rna.045849.114 · Cited by 50 · see citing works
Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders
Brand, H., Pillalamarri, V., Collins, R. L., Eggert, S., O'Dushlaine, C. T., Braaten, E. B., Stone, M. R., Chambert, K., Doty, N. D., Hanscom, C., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.005 · Cited by 44 · see citing works
Self-citation14q12 Microdeletion syndrome and congenital variant of Rett syndrome
Mencarelli, M. A., Kleefstra, T., Katzaki, E., Papa, F. T., Cohen, M. Y., Pfundt, R., Ariani, F., Meloni, I., Mari, F., & Renieri, A. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.004 · Cited by 44 · see citing works
Floris, C., Rassu, S., Boccone, L., Gasperini, D., Cao, A., & Crisponi, L. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.7 · Cited by 42 · see citing works
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case
Perche, O., Haddad, G., Menuet, A., Callier, P., Marcos, M., Briault, S., & Laudier, B. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36170 · Cited by 41 · see citing works
Vergult, S., van Binsbergen, E., Sante, T., Nowak, S., Vanakker, O. M., Claes, K., Poppe, B. G., der Aa, N. V., van Roosmalen, M. J., Duran, K. J., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.220 · Cited by 34 · see citing works
Self-citationRasmussen, M. B., Nielsen, J. V., Lourenço, C. M., Melo, J. B., Halgren, C., Geraldi, C. V. L., Marques, W., Rodrigues, G. R., Thomassen, M., Bak, M., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102535 · Cited by 30 · see citing works
Design of Large‐Insert Jumping Libraries for Structural Variant Detection Using Illumina Sequencing
Hanscom, C., & Talkowski, M. E. (2014) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0722s80 · Cited by 29 · see citing works
Self-citationSaitsu, H., Igarashi, N., Kato, M., Okada, I., Kosho, T., Shimokawa, O., Sasaki, Y., Nishiyama, K., Tsurusaki, Y., Doi, H., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34289 · Cited by 26 · see citing works
Takagi, M., Sasaki, G., Mitsui, T., Honda, M., Tanaka, Y., & Hasegawa, T. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.05.012 · Cited by 22 · see citing works
Current Techniques in Chromosome Analysis
Warburton, D. (1980) · Pediatric Clinics of North America · doi:10.1016/s0031-3955(16)33924-4 · Cited by 5 · see citing works
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Advances in epigenetics link genetics to the environment and disease
Cavalli, G., & Heard, E. (2019) · Nature · doi:10.1038/s41586-019-1411-0 · Cited by 1,509 · see citing works
A structural variation reference for medical and population genetics
Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature · doi:10.1038/s41586-020-2287-8 · Cited by 1,037 · see citing works
Self-citationMulti-platform discovery of haplotype-resolved structural variation in human genomes
Chaisson, M. J. P., Sanders, A. D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08148-z · Cited by 891 · see citing works
Self-citationStructural variation in the 3D genome
Spielmann, M., Lupiáñez, D. G., & Mundlos, S. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0007-0 · Cited by 719 · see citing works
The role of 3D genome organization in development and cell differentiation
Zheng, H., & Xie, W. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0132-4 · Cited by 711 · see citing works
Dimitriadis, E., Menkhorst, E. M., Saito, S., Kutteh, W. H., & Brosens, J. J. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-00228-z · Cited by 750 · see citing works
Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Sullivan, P. F., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.01.015 · Cited by 452 · see citing works
“WGSprovides substantially more genome coverage and resolution, especially with regard to certain forms of chromosomal structural variation (Redin et al., 2017), but at an order of magnitude cost more than SNP arrays.”
BackgroundMapping and phasing of structural variation in patient genomes using nanopore sequencing
Cretu-Stancu, M., van Roosmalen, M. J., Renkens, I., Nieboer, M. M., Middelkamp, S., de Ligt, J., Pregno, G., Giachino, D. F., Mandrile, G., Valle-Inclán, J. E., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-01343-4 · Cited by 404 · see citing works
Self-citationA cross-disorder dosage sensitivity map of the human genome
Collins, R. L., Glessner, J., Porcu, E., Lepamets, M., Brandon, R. C., Lauricella, C., Han, L., Morley, T. J., Niestroj, L., Ulirsch, J. C., et al. (2022) · Cell · doi:10.1016/j.cell.2022.06.036 · Cited by 377 · see citing works
Self-citationGenome-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 · doi:10.1126/science.aat6576 · Cited by 316 · see citing works
Self-citationWerling, 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 · doi:10.1038/s41588-018-0107-y · Cited by 293 · see citing works
Self-citationPrenatal diagnosis by chromosomal microarray analysis
Levy, B., & Wapner, R. J. (2018) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.01.005 · Cited by 342 · see citing works
Self-citationOptical genome mapping enables constitutional chromosomal aberration detection
Mantere, T., Neveling, K., Pebrel‐Richard, C., Benoist, M., van de Zande, G., Kater‐Baats, E., Baatout, I., van Beek, R., Yammine, T., Oorsprong, M., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.05.012 · Cited by 256 · see citing works
Tracing Oncogene Rearrangements in the Mutational History of Lung Adenocarcinoma
Lee, J. J.-K., Park, S., Park, H., Kim, S., Lee, J., Lee, J., Youk, J., Yi, K., An, Y., Park, I. K., et al. (2019) · Cell · doi:10.1016/j.cell.2019.05.013 · Cited by 233 · see citing works
Self-citationAneichyk, T., Hendriks, W. T. J., Yadav, R., Shin, D. S., Gao, D., Vaine, C. A., Collins, R. L., Domingo, A., Currall, B., Stortchevoi, A., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.011 · Cited by 226 · see citing works
Self-citationSettling the score: variant prioritization and Mendelian disease
Eilbeck, K. L., Quinlan, A. R., & Yandell, M. D. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.52 · Cited by 221 · see citing works
Ly, P., Brunner, S. F., Shoshani, O., Kim, D. H., Lan, W., Pyntikova, T., Flanagan, A. M., Behjati, S., Page, D. C., Campbell, P. J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0360-8 · Cited by 220 · see citing works
Collins, R. L., Brand, H., Redin, C. E., Hanscom, C., Antolik, C. W., Stone, M. R., Glessner, J., Mason, T., Pregno, G., Dorrani, N., et al. (2017) · Genome biology · doi:10.1186/s13059-017-1158-6 · Cited by 203 · see citing works
Self-citationDynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis
Kragesteen, B. K., Spielmann, M., Paliou, C., Heinrich, V., Schöpflin, R., Esposito, A., Annunziatella, C., Bianco, S., Chiariello, A. M., Jerković, I., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0221-x · Cited by 183 · see citing works
Enhancers in disease: molecular basis and emerging treatment strategies
Claringbould, A., & Zaugg, J. B. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2021.07.012 · Cited by 171 · see citing works
Krefting, J., Andrade-Navarro, M. A., & Ibn-Salem, J. (2018) · BMC Biology · doi:10.1186/s12915-018-0556-x · Cited by 162 · see citing works
The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain
Jiang, Y., Loh, Y. E., Rajarajan, P., Hirayama, T., Liao, W., Kassim, B. S., Javidfar, B., Hartley, B. J., Kleofas, L., Park, R., et al. (2017) · Nature Genetics · doi:10.1038/ng.3906 · Cited by 162 · see citing works
Genomic disorders 20 years on—mechanisms for clinical manifestations
Harel, T., & Lupski, J. R. (2017) · Clinical Genetics · doi:10.1111/cge.13146 · Cited by 142 · see citing works
Multi-platform discovery of haplotype-resolved structural variation in human genomesPreprint
Chaisson, M., Sanders, A. D., Zhao, X., Malhotra, A., Porubskỳ, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/193144 · Cited by 145 · see citing works
Self-citationGenetic variation in the immunoglobulin heavy chain locus shapes the human antibody repertoire
Rodriguez, O. L., Safonova, Y., Silver, C. A., Shields, K. M., Gibson, W. S., Kos, J. T., Tieri, D. A., Ke, H., Jackson, K., Boyd, S. D., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40070-x · Cited by 123 · see citing works
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
Melo, U. S., Schöpflin, R., Acuña‐Hidalgo, R., Mensah, M. A., Fischer‐Zirnsak, B., Holtgrewe, M., Klever, M.-K., Türkmen, S., Heinrich, V., Pluym, I. D., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.016 · Cited by 123 · see citing works
Optical Genome Mapping in Routine Human Genetic Diagnostics—Its Advantages and Limitations
Dremsek, P., Schwarz, T., Weil, B., Malashka, A., Laccone, F. A., & Neesen, J. (2021) · Genes · doi:10.3390/genes12121958 · Cited by 121 · see citing works
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., & Amor, D. J. (2018) · doi:10.1093/med/9780199329007.001.0001 · Cited by 118 · see citing works
Laugsch, M., Bartusel, M., Rehimi, R., Alirzayeva, H., Karaolidou, A., Crispatzu, G., Zentis, P., Nikolić, M., Bleckwehl, T., Kolovos, P., et al. (2019) · Cell stem cell · doi:10.1016/j.stem.2019.03.004 · Cited by 106 · see citing works
The Role of Noncoding Variants in Heritable Disease
French, J. D., & Edwards, S. L. (2020) · Trends in Genetics · doi:10.1016/j.tig.2020.07.004 · Cited by 114 · see citing works
Chromatin features constrain structural variation across evolutionary timescales
Fudenberg, G., & Pollard, K. S. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1808631116 · Cited by 106 · see citing works
Belyeu, J. R., Brand, H., Wang, H., Zhao, X., Pedersen, B. S., Feusier, J. E., Gupta, M., Nicholas, T. J., Brown, J., Baird, L. M., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.02.012 · Cited by 105 · see citing works
Self-citationEpigenetic maintenance of topological domains in the highly rearranged gibbon genome
Lazar, N. H., Nevonen, K. A., O'Connell, B., McCann, C., O'Neill, R. J., Green, R. E., Meyer, T. J., Okhovat, M., & Carbone, L. (2018) · Genome Research · doi:10.1101/gr.233874.117 · Cited by 107 · see citing works
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
Dong, Z., Yan, J., Xu, F., Yuan, J., Jiang, H., Wang, H., Chen, H., Zhang, L., Ye, L., Xu, J., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.10.003 · Cited by 104 · see citing works
Self-citationSYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
Schilit, S. L. P., Menon, S., Friedrich, C., Kammin, T., Wilch, E., Hanscom, C., Jiang, S., Kliesch, S., Talkowski, M. E., Tüttelmann, F., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.11.013 · Cited by 94 · see citing works
Self-citationHistorical and Clinical Perspectives on Chromosomal Translocations
Wilch, E., & Morton, C. C. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-0593-1_1 · Cited by 92 · see citing works
Self-citationCederquist, G., Tchieu, J. H., Callahan, S. J., Ramnarine, K., Ryan, S. D., Zhang, C., Rittenhouse, C. A., Zeltner, N., Chung, S. Y., Zhou, T., et al. (2020) · Cell stem cell · doi:10.1016/j.stem.2020.06.004 · Cited by 85 · see citing works
Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders
Hou, P., hAilín, D. Ó., Vogel, T., & Hanashima, C. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.00035 · Cited by 79 · see citing works
Halvorsen, M., Huh, R., Oskolkov, N., Wen, J., Netotea, S., Giusti‐Rodríguez, P., Karlsson, R., Bryois, J., Nystedt, B., Ameur, A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15707-w · Cited by 81 · see citing works
Current challenges in understanding the role of enhancers in disease
Zaugg, J. B., Sahlén, P., Andersson, R., Alberich-Jordà, M., de Laat, W. L., Deplancke, B., Ferrer, J. P., Mandrup, S., Natoli, G., Plewczyński, D., et al. (2022) · Nature Structural & Molecular Biology · doi:10.1038/s41594-022-00896-3 · Cited by 78 · see citing works
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
Zepeda‐Mendoza, C. J., & Morton, C. C. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.02.024 · Cited by 80 · see citing works
Self-citationSchluth‐Bolard, C., Diguet, F., Chatron, N., Rollat‐Farnier, P., Bardel, C., Afenjar, A., Amblard, F., Amiel, J., Blesson, S., Callier, P., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105778 · Cited by 78 · see citing works
Understanding the 3D genome: Emerging impacts on human disease
Krumm, A., & Duan, Z. (2018) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2018.07.004 · Cited by 75 · see citing works
The Genetics of Intellectual Disability
Jansen, S., Vissers, L. E. L. M., & de Vries, B. B. A. (2023) · Brain Sciences · doi:10.3390/brainsci13020231 · Cited by 81 · see citing works
Dong, Z., Wang, H., Chen, H., Jiang, H., Yuan, J., Yang, Z., Wang, W., Xu, F., Guo, X., Cao, Y., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.170 · Cited by 75 · see citing works
Self-citationChromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy
Bertero, A., Fields, P., Smith, A. S. T., Leonard, A., Beussman, K. M., Sniadecki, N. J., Kim, D., Tse, H., Pabon, L., Shendure, J., et al. (2019) · The Journal of Cell Biology · doi:10.1083/jcb.201902117 · Cited by 74 · see citing works
Order and disorder: abnormal 3D chromatin organization in human disease
Anania, C., & Lupiáñez, D. G. (2019) · Briefings in Functional Genomics · doi:10.1093/bfgp/elz028 · Cited by 69 · see citing works
Quantitative prediction of enhancer–promoter interactionsPreprint
Belokopytova, P. S., Mozheiko, E. A., Nuriddinov, M. A., Fishman, D., & Fishman, V. (2019) · Genome Research · doi:10.1101/gr.249367.119 · Cited by 71 · see citing works
Waggoner, D., Wain, K. E., Dubuc, A. M., Conlin, L. K., Hickey, S. E., Lamb, A. N., Martin, C. L., Morton, C. C., Rasmussen, K. J., Schuette, J. L., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0040-6 · Cited by 71 · see citing works
Self-citationOkhovat, 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 · doi:10.1038/s41467-023-43841-8 · Cited by 68 · see citing works
Sex-specific impact of prenatal androgens on social brain default mode subsystems
Lombardo, M. V., Bonnie Auyeung, B., Pramparo, T., Quartier, A., Courraud, J., Holt, R., Waldman, J., Ruigrok, A. N. V., Mooney, N., Bethlehem, R. A. I., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0198-y · Cited by 66 · see citing works
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
D’haene, E., & Vergult, S. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-00974-1 · Cited by 60 · see citing works
Self-citationDiversity and consequences of structural variation in the human genome
Collins, R. L., & Talkowski, M. E. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-024-00808-9 · Cited by 71 · see citing works
Self-citationMutational game changer: Chromothripsis and its emerging relevance to cancer
Luijten, M., Lee, J. X. T., & Crasta, K. (2018) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2018.06.004 · Cited by 63 · see citing works
When TADs go bad: Chromatin structure and nuclear organisation in human disease
Kaiser, V. B., & Semple, C. A. (2017) · F1000Research · doi:10.12688/f1000research.10792.1 · Cited by 64 · see citing works
NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.006 · Cited by 63 · see citing works
Self-citationA Practical Guide for Structural Variation Detection in the Human Genome
Yang, L. (2020) · Current Protocols in Human Genetics · doi:10.1002/cphg.103 · Cited by 63 · see citing works
An open resource of structural variation for medical and population geneticsPreprint
Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/578674 · Cited by 61 · see citing works
Self-citationChromatin Conformation in Development and Disease
Boltsis, I., Grosveld, F. G., Giraud, G., & Kolovos, P. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.723859 · Cited by 56 · see citing works
Lowther, C., Valkanas, E., Giordano, J. L., Wang, H. Z., Currall, B., O’Keefe, K., Pierce‐Hoffman, E., Kurtas, N. E., Whelan, C. W., Hao, S. P., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.07.010 · Cited by 68 · see citing works
Self-citationLow-pass genome sequencing: a validated method in clinical cytogenetics
Chau, M. H. K., Wang, H., Lai, Y., Zhang, Y., Xu, F., Tang, Y., Wang, Y., Chen, Z., Leung, T. Y., Chung, J. P. W., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02185-9 · Cited by 57 · see citing works
Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements
Krupina, K., Goginashvili, A., & Cleveland, D. W. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00663-0 · Cited by 59 · see citing works
No genome is an island: toward a 21st century agenda for evolution
Shapiro, J. A. (2019) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14044 · Cited by 52 · see citing works
Morandell, J., Schwarz, L. A., Basilico, B., Tasciyan, S., Dimchev, G. A., Nicolas, A., Sommer, C., Kreuzinger, C., Dotter, C. P., Knaus, L. S., et al. (2020) · Nature Communications · doi:10.1038/s41467-021-23123-x · Cited by 46 · see citing works
Nanopore sequencing of DNA concatemers reveals higher-order features of chromatin structurePreprint
Ulahannan, N., Pendleton, M., Deshpande, A. S., Schwenk, S., Behr, J. M., Dai, X., Tyer, C., Rughani, P., Kudman, S., Adney, E. M., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/833590 · Cited by 48 · see citing works
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Zepeda‐Mendoza, C. J., Ibn-Salem, J., Kammin, T., Harris, D. J., Rita, D., Gripp, K. W., MacKenzie, J. J., Gropman, A. L., Graham, B. H., Shaheen, R., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.011 · Cited by 47 · see citing works
Self-citationGenome sequencing as a generic diagnostic strategy for rare disease
Schobers, G., Derks, R. C., den Ouden, A., Swinkels, H. L., van Reeuwijk, J., Bosgoed, E., Lugtenberg, D., Sun, S. M., Corominas, J., Weiss, M. M., et al. (2024) · Genome Medicine · doi:10.1186/s13073-024-01301-y · Cited by 49 · see citing works
Self-citationHalgren, C., Nielsen, N. M., Nazaryan‐Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjærgaard, S., Frisch, M., Kirchhoff, M., Brøndum‐Nielsen, K., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.04.005 · Cited by 47 · see citing works
Self-citationRaca, G., Astbury, C., Behlmann, A., Castro, M. J. D., Hickey, S. E., Karaca, E., Lowther, C., Riggs, E. R., Seifert, B. A., Thorland, E. C., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.09.017 · Cited by 47 · see citing works
Self-citationWong, B. K. Y., & Sutton, V. R. (2018) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31658 · Cited by 44 · see citing works
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder
Lévy, J., Grotto, S., Mignot, C., Maruani, A., Delahaye‐Duriez, A., Benzacken, B., Keren, B., Haye, D., Xavier, J., Heulin, M., et al. (2018) · Clinical Genetics · doi:10.1111/cge.13383 · Cited by 40 · see citing works
Willi, M., Yoo, K. H., Reinisch, F., Kuhns, T. M., Lee, H., Wang, C., & Hennighausen, L. G. (2017) · Nature Communications · doi:10.1038/ncomms16069 · Cited by 36 · see citing works
TAD fusion score: discovery and ranking the contribution of deletions to genome structure
Huynh, L. N., & Hormozdiari, F. (2019) · Genome biology · doi:10.1186/s13059-019-1666-7 · Cited by 35 · see citing works
Long genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domainsPreprint
Zhao, Y.-T., Kwon, D. Y., Johnson, B. S., Fasolino, M., Lamonica, J. M., Kim, Y. J., Zhao, B. S., He, C., Vahedi, G., Kim, T. H., et al. (2018) · Genome Research · doi:10.1101/gr.233775.117 · Cited by 35 · see citing works
Rare genetic causes of complex kidney and urological diseases
Groopman, E., Povysil, G., Goldstein, D. B., & Gharavi, A. G. (2020) · Nature Reviews Nephrology · doi:10.1038/s41581-020-0325-2 · Cited by 34 · see citing works
Mohajeri, K., Yadav, R., D’haene, E., Boone, P. M., Erdin, S., Gao, D., Moysés‐Oliveira, M., Bhavsar, R., Currall, B., O’Keefe, K., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.09.015 · Cited by 30 · see citing works
Self-citationStructural variants in the 3D genome as drivers of disease
Sreenivasan, V. K. A., Yumiceba, V., & Spielmann, M. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-025-00862-x · Cited by 41 · see citing works
Deciphering the complexity of simple chromosomal insertions by genome sequencing
Dong, Z., Chau, M. H. K., Zhang, Y., Dai, P., Zhu, X., Leung, T. Y., Kong, X., Kwok, Y. K. Y., Stankiewicz, P., Cheung, S. W., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02210-x · Cited by 34 · see citing works
Copy‐Number Variants Detection by Low‐Pass Whole‐Genome Sequencing
Dong, Z., Xie, W., Chen, H., Xu, J., Wang, H., Li, Y., Wang, J., Chen, F., Choy, K. W., & Jiang, H. (2017) · Current Protocols in Human Genetics · doi:10.1002/cphg.43 · Cited by 32 · see citing works
Pagnamenta, A. T., Yu, J., Walker, S., Noble, A. J., Lord, J., Dutta, P., Hashim, M., Camps, C., Green, H., Devaiah, S., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.04.018 · Cited by 31 · see citing works
Middelkamp, S., van Heesch, S., Braat, A. K., de Ligt, J., van Iterson, M., Simonis, M., van Roosmalen, M. J., Kelder, M. J. E., Kruisselbrink, E., Hochstenbach, R., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0399-z · Cited by 31 · see citing works
Self-citationThe Genomic Characteristics and Origin of Chromothripsis
Marcozzi, A., Pellestor, F., & Kloosterman, W. P. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7780-2_1 · Cited by 31 · see citing works
Self-citationStamou, M. I., Ng, S., Brand, H., Wang, H., Plummer, L., Best, L. G., Havlicek, S., Hibberd, M. L., Khor, C. C., Gusella, J. F., et al. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz011 · Cited by 28 · see citing works
Self-citationChau, M. H. K., Li, Y., Dai, P., Shi, M., Zhu, X., Chung, J. P. W., Kwok, Y. K. Y., Choy, K. W., Kong, X., & Dong, Z. (2022) · Asian Journal of Andrology · doi:10.4103/aja2021106 · Cited by 31 · see citing works
Three-dimensional chromatin organization in cardiac development and disease
Bertero, A., & Rosa‐Garrido, M. (2020) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2020.11.008 · Cited by 31 · see citing works
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
Hochstenbach, R., Liehr, T., & Hastings, R. J. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00780-y · Cited by 30 · see citing works
Self-citationDong, Z., Chau, M. H. K., Zhang, Y., Yang, Z., Shi, M., Wah, Y. M. I., Kwok, Y. K. Y., Leung, T. Y., Morton, C. C., & Choy, K. W. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01128-7 · Cited by 30 · see citing works
Self-citationTopological isolation of developmental regulators in mammalian genomes
Wu, H., Landshammer, A., Stamenova, E. K., Bolondi, A., Kretzmer, H., Meissner, A., & Michor, F. (2021) · Nature Communications · doi:10.1038/s41467-021-24951-7 · Cited by 29 · see citing works
The AnnotSV webserver in 2023: updated visualization and ranking
Geoffroy, V., Lamouche, J.-B., Guignard, T., Nicaise, S., Kress, A., Scheidecker, S., Béchec, A. L., & Muller, J. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad426 · Cited by 28 · see citing works
Uguen, K., Jubin, C., Duffourd, Y., Bardel, C., Malan, V., Dupont, J., Khattabi, L. E., Chatron, N., Vitobello, A., Rollat‐Farnier, P., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1114 · Cited by 28 · see citing works
Regulatory variants of FOXG1 in the context of its topological domain organisation
Mehrjouy, M. M., Fonseca, A. C., Ehmke, N., Paskulin, G. A., Novelli, A., Benedicenti, F., Mencarelli, M. A., Renieri, A., Busa, T., Missirian, C., et al. (2017) · European Journal of Human Genetics · doi:10.1038/s41431-017-0011-4 · Cited by 25 · see citing works
Rare germline structural variants increase risk for pediatric solid tumors
Gillani, R., Collins, R. L., Crowdis, J., Garza, A., Jones, J. K., Walker, M., Sanchis-Juan, A., Whelan, C., Pierce‐Hoffman, E., Talkowski, M. E., et al. (2025) · Science · doi:10.1126/science.adq0071 · Cited by 27 · see citing works
Self-citationContaminating DNA in human saliva alters the detection of variants from whole genome sequencing
Samson, C., Whitford, W., Snell, R. G., Jacobsen, J. C., & Lehnert, K. (2020) · Scientific Reports · doi:10.1038/s41598-020-76022-4 · Cited by 27 · see citing works
Self-citationDong, Z., Zhao, X., Li, Q., Yang, Z., Xi, Y., Alexeev, A., Shen, H., Wang, O., Ruan, J., Ren, H., et al. (2019) · DNA Research · doi:10.1093/dnares/dsz011 · Cited by 26 · see citing works
Middelkamp, S., Vlaar, J. M., Giltay, J. C., Korzelius, J., Besselink, N. J. M., Boymans, S., Janssen, R., de la Fonteijne, L., van Binsbergen, E., van Roosmalen, M. J., et al. (2019) · Genome Medicine · doi:10.1186/s13073-019-0692-0 · Cited by 26 · see citing works
Self-citationDenommé‐Pichon, A., Vitobello, A., Olaso, R., Ziegler, A. C., Jeanne, M., Mau‐Them, F. T., Couturier, V., Racine, C., Isidor, B., Pöe, C., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00998-4 · Cited by 26 · see citing works
Bizjan, B. J., Κάτσιλα, Θ., Tesovnik, T., Šket, R., Debeljak, M., Matsoukas, M., & Kovač, J. (2019) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2019.11.008 · Cited by 24 · see citing works
Duvdevani, M. P., Pettersson, M., Eisfeldt, J., Avraham, O., Dagan, J., Frumkin, A., Lupski, J. R., Lindstrand, A., & Harel, T. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61539 · Cited by 26 · see citing works
Kozlova, A., Zhang, S., Kotlar, A., Jamison, B., Zhang, H., Shi, S. Q. Z., Forrest, M. P., McDaid, J., Cutler, D. J., Epstein, M. P., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.07.001 · Cited by 24 · see citing works
Slamova, Z., Nazaryan‐Petersen, L., Mehrjouy, M. M., Drabova, J., Hančárová, M., Maříková, T., Novotná, D., Vlčková, M., Vlčková, Z., Bak, M., et al. (2018) · Human Mutation · doi:10.1002/humu.23408 · Cited by 24 · see citing works
- Authors
- Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., Abdul-Rahman, O. A., Aberg, E., Adley, R., Alcaraz-Estrada, S. L., Alkuraya, F. S., An, Y., Anderson, M.-A., Antolik, C., Anyane-Yeboa, K., Atkin, J. F., Bartell, T., Bernstein, J. A., Beyer, E., Blumenthal, I., Bongers, E. M. H. F., Brilstra, E. H., Brown, C. W., Brüggenwirth, H. T., Callewaert, B., Chiang, C., Corning, K., Cox, H., Cuppen, E., Currall, B. B., Cushing, T., David, D., Deardorff, M. A., Dheedene, A., D'Hooghe, M., de Vries, B. B. A., Earl, D. L., Ferguson, H. L., Fisher, H., FitzPatrick, D. R., Gerrol, P., Giachino, D., Glessner, J. T., Gliem, T., Grady, M., Graham, B. H., Griffis, C., Gripp, K. W., Gropman, A. L., Hanson-Kahn, A., Harris, D. J., Hayden, M. A., Hill, R., Hochstenbach, R., Hoffman, J. D., Hopkin, R. J., Hubshman, M. W., Innes, A. M., Irons, M., Irving, M., Jacobsen, J. C., Janssens, S., Jewett, T., Johnson, J. P., Jongmans, M. C., Kahler, S. G., Koolen, D. A., Korzelius, J., Kroisel, P. M., Lacassie, Y., Lawless, W., Lemyre, E., Leppig, K., Levin, A. V., Li, H., Li, H., Liao, E. C., Lim, C., Lose, E. J., Lucente, D., Macera, M. J., Manavalan, P., Mandrile, G., Marcelis, C. L., Margolin, L., Mason, T., Masser-Frye, D., McClellan, M. W., Mendoza, C. J. Z., Menten, B., Middelkamp, S., Mikami, L. R., Moe, E., Mohammed, S., Mononen, T., Mortenson, M. E., Moya, G., Nieuwint, A. W., Ordulu, Z., Parkash, S., Pauker, S. P., Pereira, S., Perrin, D., Phelan, K., Aguilar, R. E. P., Poddighe, P. J., Pregno, G., Raskin, S., Reis, L., Rhead, W., Rita, D., Renkens, I., Roelens, F., Ruliera, J., Rump, P., Schilit, S. L. P., Shaheen, R., Sparkes, R., Spiegel, E., Stevens, B., Stone, M. R., Tagoe, J., Thakuria, J. V., van Bon, B. W., van de Kamp, J., van Der Burgt, I., van Essen, T., van Ravenswaaij-Arts, C. M., van Roosmalen, M. J., Vergult, S., Volker-Touw, C. M. L., Warburton, D. P., Waterman, M. J., Wiley, S., Wilson, A., Yerena-de Vega, M. D. L. C. A., Zori, R. T., Levy, B., Brunner, H. G., de Leeuw, N., Kloosterman, W. P., Thorland, E. C., Morton, C. C., Gusella, J. F., & Talkowski, M. E.
- Affiliations
- Broad Institute (US)
- Brigham and Women's Hospital (US)
- Mayo Clinic (US)
- Cedars-Sinai Medical Center (US)
- Baystate Medical Center (US)
- University of Mississippi Medical Center (US)
- Izaak Walton Killam Health Centre (CA)
- Massachusetts General Hospital (US)
- King Faisal Specialist Hospital & Research Centre (SA)
- Shanghai Medical College of Fudan University (CN)
- Nationwide Children's Hospital (US)
- Kaiser Permanente (US)
- Stanford Medicine (US)
- Children's Hospital of Wisconsin (US)
- Radboud University Nijmegen (NL)
- University Medical Center Utrecht (NL)
- Baylor College of Medicine (US)
- Erasmus MC (NL)
- Ghent University (BE)
- Greenwood Genetic Center (US)
- Birmingham Women's Hospital (GB)
- University of New Mexico (US)
- Children's Hospital of Philadelphia (US)
- Western General Hospital (GB)
- University of Turin (IT)
- ProHealth Care (US)
- Thomas Jefferson University (US)
- Children's National (US)
- Boston Children's Hospital (US)
- Auckland City Hospital (NZ)
- Boston Medical Center (US)
- Cincinnati Children's Hospital Medical Center (US)
- Tel Aviv University (IL)
- University of Calgary (CA)
- American Board of Medical Specialties (US)
- Guy's Hospital (GB)
- University of Auckland (NZ)
- Wake Forest University Health Sciences (US)
- Shodair Children's Hospital (US)
- Arkansas Children's Hospital (US)
- Medical University of Graz (AT)
- Louisiana State University (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Group Health Cooperative (US)
- Nanjing Medical University (CN)
- Harvard University (US)
- University of Alabama at Birmingham (US)
- NewYork–Presbyterian Hospital (US)
- Madigan Army Medical Center (US)
- Pontifícia Universidade Católica do Paraná (BR)
- Kuopio University Hospital (FI)
- Novant Health (US)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Dalhousie University (CA)
- Tulane University (US)
- University of Aberdeen (GB)
- Medical College of Wisconsin (US)
- AZ Delta (BE)
- University Medical Center Groningen (NL)
- Columbia University Irving Medical Center (US)
- The University of Texas Health Science Center at Houston (US)
- Alberta Health Services (CA)
- Eastern Nazarene College (US)
- University of Florida (US)
- Columbia University (US)
- Corresponding author
- Talkowski, Michael E
- ORCID
- Brand, Harrison
- Collins, Ryan L
- Hodge, Jennelle C
- Pillalamarri, Vamsee
- Seabra, Catarina M
- Abbott, Mary-Alice
- Abdul-Rahman, Omar A
- Alkuraya, Fowzan S
- An, Yu
- Bernstein, Jonathan A
- Brilstra, Eva H
- Brown, Chester W
- Brüggenwirth, Hennie T
- Callewaert, Bert
- Chiang, Colby
- Cox, Helen
- Cuppen, Edwin
- Currall, Benjamin B
- Deardorff, Matthew A
- Dheedene, Annelies
- Earl, Dawn L
- FitzPatrick, David R
- Giachino, Daniela
- Glessner, Joseph T
- Gliem, Troy
- Graham, Brett H
- Gripp, Karen W
- Gropman, Andrea L
- Hochstenbach, Ron
- Hoffman, Jodi D
- Hopkin, Robert J
- Innes, A Micheil
- Irving, Melita
- Jacobsen, Jessie C
- Janssens, Sandra
- Jongmans, Marjolijn C
- Koolen, David A
- Korzelius, Jerome
- Kroisel, Peter M
- Lacassie, Yves
- Leppig, Kathleen
- Levin, Alex V
- Li, Haibo
- Li, Hong
- Liao, Eric C
- Lucente, Diane
- Mandrile, Giorgia
- Marcelis, Carlo L
- Menten, Björn
- Middelkamp, Sjors
- Mikami, Liya R
- Mohammed, Shehla
- Moya, Graciela
- Ordulu, Zehra
- Phelan, Katy
- Raskin, Salmo
- Reis, Linda
- Roelens, Filip
- Rump, Patrick
- Schilit, Samantha L P
- Shaheen, Ranad
- Stevens, Blair
- Stone, Matthew R
- Vergult, Sarah
- Levy, Brynn
- Brunner, Han G
- Kloosterman, Wigard P
- Morton, Cynthia C
- Gusella, James F
- Talkowski, Michael E
- Venue
- Nature Genetics
- Published
- 2016-11-14
- Volume
- 49
- Issue
- 1
- Pages
- 36-45
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5307971
- OpenAlex
- W2551666886
- Cited by
- 334
- References
- 88
- Citations by year
- 2026: 14 · 2025: 23 · 2024: 21 · 2023: 31 · 2022: 31 · 2021: 31 · 2020: 50 · 2019: 45 · 2018: 66 · 2017: 21
- FWCI
- 35.44
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Research Explorer (The University of Manchester) (publishedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion, other-oa)
- Kent Academic Repository (University of Kent) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- UNM’s Digital Repository (University of New Mexico) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Aberdeen University Research Archive (Aberdeen University) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- National Science Foundation (1144152)
- March of Dimes Foundation (6-FY15-255)
- Philippe Foundation
- Suzhou Key Medical Center
- European Commission (51,52, 70,71, 34,35, 25,26)
- Royal Society Te Apārangi
- Government of Jiangsu Province (BL2013019)
- Fonds Wetenschappelijk Onderzoek
- Ministry of Education, India
- Vlaamse regering
- National Institutes of Health (DGE1144152, GM061354)
- Fundação para a Ciência e a Tecnologia (HMSP-ICT/0016/2013)
- National Institute of Mental Health (F32MH110124, R00MH095867, K99MH095867)
- National Institute of General Medical Sciences (P01GM061354)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (F32HD085857, R01HD081256)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- congenital malformations, whole genome sequencing, topologically associating domains, gene disruption, MEF2C, chromosome topology, gene expression regulation, clinical outcome prediction
- MeSH terms
- Congenital Abnormalities, Chromosome Aberrations, Female, Genetic Markers, Humans, Male, Gene Rearrangement, Genetic Predisposition to Disease, Genome-Wide Association Study
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