CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
Open accessAbstract
Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 ( CHD7 LOF ) and lysine (K) methyltransferase 2D ( KMT2D LOF ), respectively. Although these two syndromes are clinically distinct, there is significant phenotypic overlap. We therefore expected that epigenetically driven developmental pathways regulated by CHD7 and KMT2D would overlap and that DNA methylation (DNAm) alterations downstream of the mutations in these genes would identify common target genes, elucidating a mechanistic link between these two conditions, as well as specific target genes for each disorder. Genome-wide DNAm profiles in individuals with CHARGE and Kabuki syndromes with CHD7 LOF or KMT2D LOF identified distinct sets of DNAm differences in each of the disorders, which were used to generate two unique, highly specific and sensitive DNAm signatures. These DNAm signatures were able to differentiate pathogenic mutations in these two genes from controls and from each other. Analysis of the DNAm targets in each gene-specific signature identified both common gene targets, including homeobox A5 ( HOXA5 ), which could account for some of the clinical overlap in CHARGE and Kabuki syndromes, as well as distinct gene targets. Our findings demonstrate how characterization of the epigenome can contribute to our understanding of disease pathophysiology for epigenetic disorders, paving the way for explorations of novel therapeutics.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Direct functional genomic exploration of accessible and disease-relevant tissues from patients using RNA sequencing and DNA methylation assays can identify previously cryptic causal genetic variants, particularly in under-explored noncoding regions.
“Direct functional genomic exploration of accessible and disease-relevant tissues from patients using RNA sequencing and DNA methylation assays30,31 can identify previously cryptic causal genetic variants, particularly in under-explored regions outside protein-coding genes32,33.”
From A brief history of human disease genetics (2020) · cites this paper as [31]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
1 retracted
Hanna, G. L., Liu, Y., Isaacs, Y. E., Ayoub, A. M., Torres, J. J., O’Hara, N. B., & Gehring, W. J. (2016) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2016.06.012 · Cited by 30 · see citing works
Retractedlimma powers differential expression analyses for RNA-sequencing and microarray studies
Ritchie, M. E., Phipson, B., Wu, D., Hu, Y., Law, C. W., Shi, W., & Smyth, G. K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv007 · Cited by 40,458 · see citing works
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400 · see citing works
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368 · see citing works
GREAT improves functional interpretation of cis-regulatory regions
McLean, C. Y., Bristor, D., Hiller, M., Clarke, S. L., Schaar, B. T., Lowe, C. B., Wenger, A. M., & Bejerano, G. (2010) · Nature Biotechnology · doi:10.1038/nbt.1630 · Cited by 4,502 · see citing works
Gene Ontology Consortium: going forward
The Gene Ontology Consortium (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1179 · Cited by 3,492 · see citing works
Long Noncoding RNA as Modular Scaffold of Histone Modification Complexes
Tsai, M.-C., Manor, O., Wan, Y., Mosammaparast, N., Wang, J. K., Lan, F., Shi, Y., Segal, E., & Chang, H. Y. (2010) · Science · doi:10.1126/science.1192002 · Cited by 3,290 · cited 1× · see citing works
“HOTAIRM is a long non-coding RNA (lncRNA), which has been found to interact with different chromatinmodifying complexes.(78) Recent work by Wang and Dostie (2016) found that HOTAIRM1 contributes to three-dimensional changes in chromatin organization required for the temporal collinear activation of HOXA genes.”
BackgroundMutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975 · see citing works
SIFT web server: predicting effects of amino acid substitutions on proteins
Sim, N.-L., Kumar, P. N., Hu, J., Henikoff, S., Schneider, G., & Ng, P. C. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks539 · Cited by 2,419 · see citing works
Du, P., Zhang, X., Huang, C.-C., Jafari, N., Kibbe, W. A., Hou, L., & Lin, S. M. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-587 · Cited by 2,136 · see citing works
ESEfinder: a web resource to identify exonic splicing enhancers
Cartegni, L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg616 · Cited by 1,593 · see citing works
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Ng, S. B. H., Bigham, A. W., Buckingham, K. J., Hannibal, M., McMillin, M. J., Gildersleeve, H. I. S., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.646 · Cited by 1,349 · see citing works
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Vissers, L. E. L. M., van Ravenswaaij‐Arts, C. M. A., Admiraal, R. J. C., Hurst, J. A., Vries, B. B. A. D., Janssen, I. M., van der Vliet, W. A., Huys, E., de Jong, P. J., Hamel, B. C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1407 · Cited by 1,281 · see citing works
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
Guy, J., Gan, J., Selfridge, J., Cobb, S., & Bird, A. (2007) · Science · doi:10.1126/science.1138389 · Cited by 1,230 · see citing works
Reinius, L. E., Acevedo, N., Joerink, M., Pershagen, G., Dahlén, S., Greco, D., Söderhäll, C., Scheynius, A., & Kere, J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041361 · Cited by 1,019 · see citing works
De novo identification of differentially methylated regions in the human genome
Peters, T. J., Buckley, M. J., Statham, A. L., Pidsley, R., Samaras, K., Lord, R. V., Clark, S. J., & Molloy, P. L. (2015) · Epigenetics & Chromatin · doi:10.1186/1756-8935-8-6 · Cited by 956 · see citing works
RefSeq: an update on mammalian reference sequences
Pruitt, K. D., Brown, G., Hiatt, S. M., Thibaud‐Nissen, F., Astashyn, A., Ermolaeva, O. D., Farrell, C. M., Hart, J. A., Landrum, M., McGarvey, K. M., et al. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1114 · Cited by 936 · see citing works
Chen, Y.-A., Lemire, M., Choufani, S., Butcher, D., Grafodatskaya, D., Zanke, B., Gallinger, S., Hudson, T. J., & Weksberg, R. (2013) · Epigenetics · doi:10.4161/epi.23470 · Cited by 908 · see citing works
Self-citationChromatin Acetylation, Memory, and LTP Are Impaired in CBP+/− Mice
Alarcón, J. M., Malleret, G., Touzani, K., Vronskaya, S., Ishii, S., Kandel, E. R., & Barco, A. (2004) · Neuron · doi:10.1016/j.neuron.2004.05.021 · Cited by 892 · see citing works
Demethylation of H3K27 Regulates Polycomb Recruitment and H2A Ubiquitination
Lee, M. G., Villa, R., Trojer, P., Norman, J. A., Yan, K.-P., Reinberg, D., Croce, L. D., & Shiekhattar, R. (2007) · Science · doi:10.1126/science.1149042 · Cited by 772 · see citing works
Regulation of MLL1 H3K4 methyltransferase activity by its core components
Dou, Y., Milne, T. A., Ruthenburg, A. J., Lee, S., Lee, J. W., Verdine, G. L., Allis, C. D., & Roeder, R. G. (2006) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1128 · Cited by 764 · see citing works
The Simons Simplex Collection: a resource for identification of autism genetic risk factors
Fischbach, G. D., & Lord, C. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.006 · Cited by 725 · see citing works
Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies
Jaffe, A. E., Murakami, P. N., Lee, H.-J., Leek, J. T., Fallin, M. D., Feinberg, A. P., & Irizarry, R. A. (2012) · International Journal of Epidemiology · doi:10.1093/ije/dyr238 · Cited by 687 · see citing works
Epigenetic signatures distinguish multiple classes of enhancers with distinct cellular functions
Zentner, G. E., Tesar, P. J., & Scacheri, P. C. (2011) · Genome Research · doi:10.1101/gr.122382.111 · Cited by 564 · see citing works
Hox genes and regional patterning of the vertebrate body plan
Mallo, M., Wellik, D. M., & Deschamps, J. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.04.024 · Cited by 536 · see citing works
Smith, P. J., Zhang, C., Wang, J., Chew, S. L., Zhang, M. Q., & Krainer, A. R. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl171 · Cited by 514 · see citing works
FOXP2 and the neuroanatomy of speech and language
Vargha‐Khadem, F., Gadian, D. G., Copp, A. J., & Mishkin, M. (2005) · Nature reviews. Neuroscience · doi:10.1038/nrn1605 · Cited by 498 · see citing works
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
Jongmans, M. C. J., Admiraal, R. J. C., van der Donk, K. P., Vissers, L. E. L. M., Baas, A. F., Kapusta, L., van Hagen, J. M., Donnai, D., de Ravel, T. J. L., Veltman, J. A., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036061 · Cited by 463 · see citing works
CHARGE Association: An Update and Review for the Primary Pediatrician
BLAKE, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., Lin, A. E., & Graham, J. M. (1998) · Clinical Pediatrics · doi:10.1177/000992289803700302 · Cited by 457 · see citing works
Updated diagnostic criteria for CHARGE syndrome: A proposal
Verloès, A. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30559 · Cited by 382 · see citing works
Issaeva, I., Zonis, Y. A., Rozovskaia, T., Orlovsky, K., Croce, C. M., Nakamura, T., Mazo, A., Eisenbach, L., & Canaani, E. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01506-06 · Cited by 380 · see citing works
Shmelkov, S. V., Hormigo, A., Jing, D., Proenca, C. C., Bath, K. G., Milde, T., Shmelkov, E., Kushner, J. S., Baljevic, M., Dincheva, I., et al. (2010) · Nature Medicine · doi:10.1038/nm.2125 · Cited by 361 · see citing works
Histone H3 lysine 4 (H3K4) methylation in development and differentiation
Eissenberg, J. C., & Shilatifard, A. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.08.017 · Cited by 356 · see citing works
Mutations in EZH2 Cause Weaver Syndrome
Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R. A., Mungall, A. J. J., Eydoux, P., Babul‐Hirji, R., An, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.018 · Cited by 320 · see citing works
Self-citationCHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
Bergman, J. E. H., Janssen, N., Hoefsloot, L. H., Jongmans, M. C. J., Hofstra, R. M. W., & van Ravenswaaij‐Arts, C. M. A. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.087106 · Cited by 319 · see citing works
BLAKE, K. D., & Prasad, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-34 · Cited by 279 · see citing works
Selective control of inhibitory synapse development by Slitrk3-PTPδ trans-synaptic interaction
Takahashi, H., Katayama, K.-I., Sohya, K., Miyamoto, H., Prasad, T., Matsumoto, Y., Ota, M., Yasuda, H., Tsumoto, T., Aruga, J., et al. (2012) · Nature Neuroscience · doi:10.1038/nn.3040 · Cited by 250 · see citing works
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patternsPreprint
Schnetz, M. P., Bartels, C. F., Shastri, K., Balasubramanian, D., Zentner, G. E., Balaji, R., Zhang, X., Song, L., Wang, Z., LaFramboise, T., et al. (2009) · Genome Research · doi:10.1101/gr.086983.108 · Cited by 246 · see citing works
Kim, J., Sharma, A., Dhar, S. S., Lee, S.-H., Gu, B., Chan, C., Lin, H., & Lee, M. G. (2014) · Cancer Research · doi:10.1158/0008-5472.can-13-1896 · Cited by 246 · see citing works
Aruga, J., & Mikoshiba, K. (2003) · Molecular and Cellular Neuroscience · doi:10.1016/s1044-7431(03)00129-5 · Cited by 225 · see citing works
NSD1 mutations generate a genome-wide DNA methylation signature
Choufani, S., Cytrynbaum, C. S., Chung, B. H., Turinsky, A. L., Grafodatskaya, D., Chen, Y., Cohen, A. S. A., Dupuis, L., Butcher, D. T., Siu, M., et al. (2015) · Nature Communications · doi:10.1038/ncomms10207 · Cited by 207 · see citing works
Self-citationDisrupted Intricacy of Histone H3K4 Methylation in Neurodevelopmental Disorders
Vallianatos, C. N., & Iwase, S. (2015) · Epigenomics · doi:10.2217/epi.15.1 · Cited by 202 · see citing works
Bjornsson, H. T., Benjamin, J. S., Zhang, L., Weissman, J., Gerber, E. E., Chen, Y.-C., Vaurio, R. G., Potter, M. C., Hansen, K. D., & Dietz, H. C. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3009278 · Cited by 194 · see citing works
Laarhoven, P. M. V., Neitzel, L. R., Quintana, A. M., Geiger, E. A., Zackai, E. H., Clouthier, D. E., Artinger, K., Ming, J. E., & Shaikh, T. H. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv180 · Cited by 187 · see citing works
β1 Integrin Maintains Integrity of the Embryonic Neocortical Stem Cell Niche
Loulier, K., Lathia, J. D., Marthiens, V., Relucio, J. L. V., Mughal, M. R., Tang, S., Coksaygan, T., Hall, P. E., Chigurupati, S., Patton, B. L., et al. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000176 · Cited by 184 · see citing works
Specification of axial identity in the mouse: role of the Hoxa-5 (Hox1.3) gene.Preprint
Jeannotte, L., Lemieux, M., Charron, J., Poirier, F., & Robertson, E. J. (1993) · Genes & Development · doi:10.1101/gad.7.11.2085 · Cited by 183 · see citing works
Hox transcription factors and their elusive mammalian gene targets
Svingen, T., & Tonissen, K. F. (2006) · Heredity · doi:10.1038/sj.hdy.6800847 · Cited by 166 · see citing works
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
Tatton‐Brown, K., Hanks, S., Ruark, E., Zachariou, A., Duarte, S. D. V., Ramsay, E., Snape, K. M. G., Murray, A., Perdeaux, E. R., Seal, S., et al. (2011) · Oncotarget · doi:10.18632/oncotarget.385 · Cited by 164 · see citing works
Bögershausen, N., & Wollnik, B. (2012) · Clinical Genetics · doi:10.1111/cge.12051 · Cited by 164 · see citing works
Hale, C. L., Niederriter, A. N., Green, G. E., & Martin, D. M. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37435 · Cited by 147 · see citing works
KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation
Ang, S., Uebersohn, A., Spencer, C. I., Huang, Y., Lee, J., Ge, K., & Bruneau, B. G. (2016) · Development · doi:10.1242/dev.132688 · Cited by 142 · see citing works
Banka, S., Lederer, D., Benoît, V., Jenkins, E., Howard, E., Bunstone, S., Kerr, B. A., McKee, S. A., Lloyd, I. C., Shears, D. J., et al. (2014) · Clinical Genetics · doi:10.1111/cge.12363 · Cited by 135 · see citing works
Bouazoune, K., & Kingston, R. E. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1213825109 · Cited by 129 · see citing works
Zhang, P., Lee, H., Brunzelle, J. S., & Couture, J. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1235 · Cited by 126 · see citing works
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
Schulz, Y., Wehner, P., Opitz, L., Salinas, G., Bongers, E. M. H. F., van Ravenswaaij‐Arts, C. M. A., Wincent, J., Schoumans, J., Kohlhase, J., Borchers, A., et al. (2014) · Human Genetics · doi:10.1007/s00439-014-1444-2 · Cited by 121 · see citing works
Epigenetic control of Hox genes during neurogenesis, development, and disease
Barber, B. A., & Rastegar, M. (2010) · Annals of Anatomy - Anatomischer Anzeiger · doi:10.1016/j.aanat.2010.07.009 · Cited by 105 · see citing works
Grafodatskaya, D., Chung, B. H., Butcher, D. T., Turinsky, A. L., Goodman, S. J., Choufani, S., Chen, Y. A., Lou, Y., Zhao, C., Rajendram, R., et al. (2013) · BMC Medical Genomics · doi:10.1186/1755-8794-6-1 · Cited by 103 · see citing works
Self-citationMicale, L., Augello, B., Maffeo, C., Selicorni, A., Zucchetti, F., Fusco, C., Nittis, P. D., Pellico, M. T., Mandriani, B., Fischetto, R., et al. (2014) · Human Mutation · doi:10.1002/humu.22547 · Cited by 101 · see citing works
Slitrk5 Mediates BDNF-Dependent TrkB Receptor Trafficking and Signaling
Song, M., Giza, J. I., Proenca, C. C., Jing, D., Elliott, M., Dincheva, I., Shmelkov, S. V., Kim, J., Schreiner, R. P., Huang, S., et al. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.04.009 · Cited by 96 · see citing works
Geneviève, D., Amiel, J., Viot, G., Merrer, M. F. L., Sanlaville, D., Urtizberea, A., Gérard, M., Münnich, A., Cormier‐Daire, V., & Lyonnet, S. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30144 · Cited by 92 · see citing works
Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability
Delahaye‐Duriez, A., Sznajer, Y., Lyonnet, S., Elmaleh, M., Delpierre, I., Audollent, S., Vacher, S. R. W., Mansbach, A. L., Amiel, J., Baumann, C., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00821.x · Cited by 92 · see citing works
Jongmans, M. C. J., Hoefsloot, L. H., van der Donk, K. P., Admiraal, R. J. C., Magee, A. C., van de Laar, I. M. B. H., Hendriks, Y. M. C., Verheij, J. B. G. M., Walpole, I., Brunner, H. G., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31921 · Cited by 89 · see citing works
Kernohan, K. D., Schenkel, L. C., Huang, L., Smith, A. C., Paré, G., Ainsworth, P., Boycott, K. M., Warman‐Chardon, J., & Sadiković, B. (2016) · Clinical Epigenetics · doi:10.1186/s13148-016-0254-x · Cited by 81 · see citing works
Hox gene regulation and timing in embryogenesis
Montavon, T., & Soshnikova, N. V. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.06.005 · Cited by 78 · see citing works
Methylation of HoxA5 and HoxB5 and its relevance to expression during mouse development
Hershko, A. Y., Kafri, T., Fainsod, A., & Razin, A. (2003) · Gene · doi:10.1016/s0378111902010910 · Cited by 73 · see citing works
Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjærg, L., Hoefsloot, L. H., van Ravenswaaij‐Arts, C. M. A., & Hofstra, R. M. W. (2012) · Human Mutation · doi:10.1002/humu.22106 · Cited by 73 · see citing works
An evaluation of statistical methods for DNA methylation microarray data analysis
Li, D., Xie, Z., Pape, M., & Dye, T. (2015) · BMC Bioinformatics · doi:10.1186/s12859-015-0641-x · Cited by 72 · see citing works
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association
Ming, J. E., Russell, K. L., Bason, L. D., McDonald‐McGinn, D. M., & Zackai, E. H. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20277 · Cited by 69 · see citing works
Long, K. R., Moss, L., Laursen, L. S., Boulter, L., & ffrench‐Constant, C. (2016) · Nature Communications · doi:10.1038/ncomms10354 · Cited by 69 · see citing works
CHARGE and Kabuki syndromes: a phenotypic and molecular link
Schulz, Y., Freese, L., Mänz, J., Zoll, B., Völter, C., Brockmann, K., Bögershausen, N., Becker, J., Wollnik, B., & Pauli, S. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu156 · Cited by 68 · see citing works
Wang, X. Q. D., & Dostie, J. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw966 · Cited by 68 · see citing works
Hutlet, B., Theys, N., Coste, C., Ahn, M., Doshishti-Agolli, K., Lizen, B., & Gofflot, F. (2014) · Brain Structure and Function · doi:10.1007/s00429-014-0965-8 · Cited by 55 · see citing works
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome
Lin, J. ‐., Lee, W., Huang, J., Chen, P. K. ‐., Chan, K. ‐., Lo, L., You, Y. ‐., Shih, Y.-F., Tseng, T. ‐., & Wu, M. ‐. (2014) · Clinical Genetics · doi:10.1111/cge.12484 · Cited by 53 · see citing works
Buhule, O. D., Minster, R. L., Hawley, N. L., Medvedovic, M., Sun, G., Viali, S., Deka, R., McGarvey, S. T., & Weeks, D. E. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00354 · Cited by 53 · see citing works
Parrillo, L., Costa, V., Raciti, G. A., Longo, M., Spinelli, R., Esposito, R., Nigro, C., Vastolo, V., Desiderio, A., Zatterale, F., et al. (2016) · International Journal of Obesity · doi:10.1038/ijo.2016.36 · Cited by 52 · see citing works
Chen, Y. A., Choufani, S., Grafodatskaya, D., Butcher, D. T., Ferreira, J. C., & Weksberg, R. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.020 · Cited by 40 · see citing works
Self-citationImmune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study
Wong, M., Lambeck, A. J. A., van der Burg, M., Gemert, S. L. B., Hogendorf, L. A., van Ravenswaaij‐Arts, C. M. A., & Schölvinck, E. H. (2015) · PLoS ONE · doi:10.1371/journal.pone.0142350 · Cited by 40 · see citing works
Chromatin Remodeling in Development and Disease: Focus on CHD7
Martin, D. M. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001010 · Cited by 37 · see citing works
Are MYO1C and MYO1F associated with hearing loss?
Zadro, C., Alemanno, M. S., Bellacchio, E., Ficarella, R., Donaudy, F., Melchionda, S., Zelante, L., Rabionet, R., Hilgert, N., Estivill, X., et al. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2008.10.017 · Cited by 32 · see citing works
Lizen, B., Hutlet, B., Bissen, D., Sauvegarde, D., Hermant, M., Ahn, M., & Gofflot, F. (2016) · The Journal of Comparative Neurology · doi:10.1002/cne.24123 · Cited by 31 · see citing works
An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome
Verhagen, J. M. A., Oostdijk, W., van Scheltinga, C. E. J. T., Schalij-Delfos, N. E., & van Bever, Y. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.05.005 · Cited by 29 · see citing works
Expression of forkhead box transcription factor genes Foxp1 and Foxp2 during jaw development
Cesario, J. M., Almaidhan, A. A., & Jeong, J. (2016) · Gene Expression Patterns · doi:10.1016/j.gep.2016.03.001 · Cited by 29 · see citing works
Epigenetic Developmental Disorders: CHARGE Syndrome, a Case Study
Martin, D. M. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0059-1 · Cited by 26 · see citing works
Li, D., Wang, Z., Chen, W., Xie, Y.-Y., You, Q., & Guo, X. (2016) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2016.09.073 · Cited by 24 · see citing works
Zwijsen, A., Goumans, M., Lawson, K. A., van Rooijen, M. A., & Mummery, C. L. (1999) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(199902)214:2 · Cited by 21 · see citing works
Dynamic expression of murine HOXA5 protein in the central nervous system
Joksimovic, M., Jeannotte, L., & Tuggle, C. K. (2005) · Gene Expression Patterns · doi:10.1016/j.modgep.2005.03.008 · Cited by 20 · see citing works
Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?
Patel, N., & Alkuraya, F. S. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36804 · Cited by 15 · see citing works
Majority Vote and Other Problems when using Computational Tools
Vihinen, M. (2014) · Human Mutation · doi:10.1002/humu.22600 · Cited by 15 · see citing works
Epistatic interactions betweenChd7andFgf8during cerebellar development
Basson, M. A. (2014) · Rare Diseases · doi:10.4161/rdis.28688 · Cited by 13 · see citing works
Retinoic Acid Signaling: A New Piece in the Spoken Language Puzzle
van Rhijn, J.-R., & Vernes, S. C. (2015) · Frontiers in Psychology · doi:10.3389/fpsyg.2015.01816 · Cited by 7 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
Monies, D., Abouelhoda, M. I., Alsayed, M. D., Al‐Hassnan, Z. N., Alotaibi, M., Kayyali, H. R., Al‐Owain, M. A., Shah, A., Rahbeeni, Z. A., Al–Muhaizea, M. A., et al. (2017) · Human Genetics · doi:10.1007/s00439-017-1821-8 · Cited by 306 · see citing works
Kabuki syndrome: international consensus diagnostic criteria
Adam, M. P., Banka, S., Bjornsson, H. T., Bodamer, O. A., Chudley, A. E., Harris, J., Kawame, H., Lanpher, B. C., Lindsley, A., Merla, G., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105625 · Cited by 245 · see citing works
Aref-Eshghi, E., Bend, E. G., Colaiacovo, S., Caudle, M., Chakrabarti, R., Napier, M., Brick, L., Brady, L., Carere, D. A., Levy, M. A., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.008 · Cited by 201 · see citing works
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Sadiković, B., Levy, M. A., Kerkhof, J., Aref‐Eshghi, E., Schenkel, L. C., Stuart, A., McConkey, H., Henneman, P., Venema, A., Schwartz, C. E., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-020-01096-4 · Cited by 207 · see citing works
Aref‐Eshghi, E., Rodenhiser, D. I., Schenkel, L. C., Lin, H., Skinner, C. D., Ainsworth, P., Paré, G., Hood, R. L., Bulman, D. E., Kernohan, K. D., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.12.008 · Cited by 181 · see citing works
Levy, M., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., et al. (2021) · HGG advances · doi:10.1016/j.xhgg.2021.100075 · Cited by 154 · see citing works
Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects
Fahrner, J. A., & Bjornsson, H. T. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz174 · Cited by 149 · see citing works
Dzobo, K., Adotey, S. K., Thomford, N. E., & Dzobo, W. (2019) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2019.0038 · Cited by 150 · see citing works
Interplay between chromatin marks in development and disease
Janssen, S. M., & Lorincz, M. C. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00416-x · Cited by 141 · see citing works
Bend, E. G., Aref‐Eshghi, E., Everman, D. B., Rogers, R. C., Cathey, S. S., Prijoles, E. J., Lyons, M. J., Davis, H., Clarkson, K., Gripp, K. W., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0658-5 · Cited by 116 · see citing works
The expanding diagnostic toolbox for rare genetic diseases
Kernohan, K. D., & Boycott, K. M. (2024) · Nature Reviews Genetics · doi:10.1038/s41576-023-00683-w · Cited by 107 · see citing works
Aref‐Eshghi, E., Schenkel, L. C., Lin, H., Skinner, C. D., Ainsworth, P., Paré, G., Rodenhiser, D. I., Schwartz, C. E., & Sadiković, B. (2017) · Epigenetics · doi:10.1080/15592294.2017.1381807 · Cited by 105 · see citing works
Martin-Herranz, D. E., Aref‐Eshghi, E., Bonder, M. J., Stubbs, T. M., Choufani, S., Weksberg, R., Stegle, O., Sadiković, B., Reik, W., & Thornton, J. M. (2019) · Genome biology · doi:10.1186/s13059-019-1753-9 · Cited by 100 · see citing works
Self-citationGabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103 · see citing works
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases
Hartley, T., Lemire, G., Kernohan, K. D., Howley, H. E. A., Adams, D. R., & Boycott, K. M. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083118-015345 · Cited by 102 · see citing works
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
Costain, G., Walker, S., Marano, M. M., Veenma, D. C. M., Snell, M., Curtis, M., Luca, S., Buera, J., Arje, D., Reuter, M. S., et al. (2020) · JAMA Network Open · doi:10.1001/jamanetworkopen.2020.18109 · Cited by 89 · see citing works
Self-citationMone, F., Eberhardt, R. Y., Morris, R. K., Hurles, M. E., McMullan, D., Maher, E. R., Lord, J., Chitty, L. S., Giordano, J. L., Wapner, R. J., et al. (2020) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.22072 · Cited by 92 · see citing works
Wright, C. F., Prigmore, E., Rajan, D., Handsaker, J., McRae, J. F., Kaplanis, J., Fitzgerald, T. W., FitzPatrick, D. R., Firth, H. V., & Hurles, M. E. (2019) · Nature Communications · doi:10.1038/s41467-019-11059-2 · Cited by 86 · see citing works
Choufani, S., Gibson, W. T., Turinsky, A. L., Chung, B. H., Wang, T., Garg, K., Vitriolo, A., Cohen, A. S. A., Cyrus, S. S., Goodman, S. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.03.008 · Cited by 82 · see citing works
Self-citationThe role of the clinician in the multi‐omics era: are you ready?
van Karnebeek, C., Wortmann, S. B., Tarailo‐Graovac, M., Langeveld, M., Ferreira, C. R., van de Kamp, J. M., Hollak, C. E. M., Wasserman, W. W., Waterham, H. R., Wevers, R. A., et al. (2018) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0128-1 · Cited by 79 · see citing works
van Ravenswaaij‐Arts, C. M. A., & Martin, D. M. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31592 · Cited by 80 · see citing works
Siu, M., Butcher, D. T., Turinsky, A. L., Cytrynbaum, C. S., Stavropoulos, D. J., Walker, S., Caluseriu, O., Carter, M., Lou, Y., Nicolson, R., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0684-3 · Cited by 77 · see citing works
Self-citationInfant mortality: the contribution of genetic disorders
Wojcik, M. H., Schwartz, T. S., Thiele, K., Paterson, H. L., Stadelmaier, R., Mullen, T. E., VanNoy, G. E., Genetti, C. A., Madden, J. A., Gubbels, C. S., et al. (2019) · Journal of Perinatology · doi:10.1038/s41372-019-0451-5 · Cited by 78 · see citing works
Dissecting KMT2D missense mutations in Kabuki syndrome patients
Cocciadiferro, D., Augello, B., Nittis, P. D., Zhang, J., Mandriani, B., Malerba, N., Squeo, G. M., Romano, A., Piccinni, B., Verri, T., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy241 · Cited by 76 · see citing works
Saudubray, J., Mochel, F., Lamari, F., & García‐Cazorla, À. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12086 · Cited by 74 · see citing works
Rots, D., Chater‐Diehl, E., Dingemans, A. J. M., Goodman, S. J., Siu, M. T., Cytrynbaum, C. S., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.04.008 · Cited by 73 · see citing works
Self-citationPatients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
Sobreira, N. L. D. M., Brucato, M. F., Zhang, L., Ladd‐Acosta, C., Ongaco, C. M., Romm, J., Doheny, K. F., Mingroni‐Netto, R. C., Bertola, D. R., Kim, C. A., et al. (2017) · European Journal of Human Genetics · doi:10.1038/s41431-017-0023-0 · Cited by 70 · see citing works
Schenkel, L. C., Aref‐Eshghi, E., Skinner, C. D., Ainsworth, P., Lin, H., Paré, G., Rodenhiser, D. I., Schwartz, C. E., & Sadiković, B. (2018) · Clinical Epigenetics · doi:10.1186/s13148-018-0453-8 · Cited by 70 · see citing works
Faùndes, V., Goh, S., Akilapa, R., Bezuidenhout, H., Bjornsson, H. T., Bradley, L., Brady, A. F., Brischoux‐Boucher, E., Brunner, H. G., Bulk, S., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01119-8 · Cited by 69 · see citing works
Sadiković, B., Aref‐Eshghi, E., Levy, M. A., & Rodenhiser, D. I. (2019) · Epigenomics · doi:10.2217/epi-2018-0192 · Cited by 68 · see citing works
Cuvertino, S., Hartill, V. L., Colyer, A., Garner, T., Nair, N., Al‐Gazali, L., Canham, N. L. E., Faùndes, V., Flinter, F. A., Hertecant, J., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-019-0743-3 · Cited by 68 · see citing works
CHD7 regulates bone-fat balance by suppressing PPAR-γ signaling
Liu, C., Xiong, Q., Li, Q., Lin, W., Jiang, S., Zhang, D., Wang, Y., Duan, X., Gong, P., & Kang, N. (2022) · Nature Communications · doi:10.1038/s41467-022-29633-6 · Cited by 66 · see citing works
A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. M., Maas, S. M., Henneman, P., van der Lip, K., Venema, A., Baranano, K. W., Chassevent, A., Aref‐Eshghi, E., van Essen, A. J., Fukuda, T., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0749-3 · Cited by 64 · see citing works
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Moccia, A., Srivastava, A., Skidmore, J. M., Bernat, J. A., Wheeler, M. M., Chong, J. X., Nickerson, D. A., Bamshad, M. J., Hefner, M. A., Martin, D. M., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.233 · Cited by 59 · see citing works
Anatomy of DNA methylation signatures: Emerging insights and applications
Chater‐Diehl, E., Goodman, S. J., Cytrynbaum, C. S., Turinsky, A. L., Choufani, S., & Weksberg, R. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.06.015 · Cited by 61 · see citing works
Self-citationJeffries, A. R., Maroofian, R., Salter, C. G., Chioza, B. A., Cross, H. E., Patton, M. A., Dempster, E. L., Temple, I. K., Mackay, D., Rezwan, F. I., et al. (2019) · Genome Research · doi:10.1101/gr.243584.118 · Cited by 57 · see citing works
Ciolfi, A., Aref‐Eshghi, E., Pizzi, S., Pedace, L., Miele, E., Kerkhof, J., Flex, E., Martinelli, S., Radio, F. C., Ruivenkamp, C. A. L., et al. (2020) · Clinical Epigenetics · doi:10.1186/s13148-019-0804-0 · Cited by 59 · see citing works
Discovery of the First-in-Class G9a/GLP Covalent Inhibitors
Park, K., Xiong, Y., Yim, H., Velez, J., Babault, N., Kumar, P., Liu, J., & Jin, J. J. (2022) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.2c00652 · Cited by 59 · see citing works
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
Breen, M. S., Garg, P., Tang, L., Mendonca, D., Levy, T., Barbosa, M., Arnett, A. B., Kurtz‐Nelson, E. C., Agolini, E., Battaglia, A., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.07.003 · Cited by 57 · see citing works
DNA Methylation in the Diagnosis of Monogenic Diseases
Cerrato, F., Sparago, A., Ariani, F., Brugnoletti, F., Calzari, L., Coppedè, F., Luca, A. D., Gervasini, C., Giardina, E., Gurrieri, F., et al. (2020) · Genes · doi:10.3390/genes11040355 · Cited by 47 · see citing works
Goodman, S. J., Burton, C. L., Butcher, D. T., Siu, M. T., Lemire, M., Chater‐Diehl, E., Turinsky, A. L., Brudno, M., Soreni, N., Rosenberg, D., et al. (2020) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-020-09324-3 · Cited by 46 · see citing works
Self-citationNew insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Chater‐Diehl, E., Ejaz, R., Cytrynbaum, C. S., Siu, M. T., Turinsky, A. L., Choufani, S., Goodman, S. J., Abdul-Rahman, O. A., Bedford, M., Dorrani, N., et al. (2019) · BMC Medical Genomics · doi:10.1186/s12920-019-0555-y · Cited by 45 · see citing works
Self-citationSadiković, B., Levy, M. A., & Aref‐Eshghi, E. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa144 · Cited by 44 · see citing works
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome
Baldridge, D., Spillmann, R. C., Wegner, D., Wambach, J., White, F. V., Sisco, K. A., Toler, T. L., Dickson, P., Cole, F. S., Shashi, V., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61518 · Cited by 42 · see citing works
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
Haghshenas, S., Bhai, P. S., Aref‐Eshghi, E., & Sadiković, B. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239303 · Cited by 40 · see citing works
CHARGEd with neural crest defects
Pauli, S., Bajpai, R., & Borchers, A. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31584 · Cited by 40 · see citing works
Stem Cell Proliferation Is Kept in Check by the Chromatin Regulators Kismet/CHD7/CHD8 and Trr/MLL3/4
Gervais, L., van den Beek, M., Josserand, M., Sallé, J., Stefanutti, M., Perdigoto, C. N., Skorski, P., Mazouni, K., Marshall, O. J., Brand, A. H., et al. (2019) · Developmental Cell · doi:10.1016/j.devcel.2019.04.033 · Cited by 40 · see citing works
Meisner, J. K., & Martin, D. M. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31761 · Cited by 39 · see citing works
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Courraud, J., Chater‐Diehl, E., Durand, B., Vincent, M., Moreno, M. D. M. M., Boujelbene, I., Drouot, N., Genschik, L., Schaefer, É., Nizon, M., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01263-1 · Cited by 39 · see citing works
Self-citationInhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome
Serrano, M. D. L. Á., Demarest, B. L., Tone-Pah-Hote, T., Tristani‐Firouzi, M., & Yost, H. J. (2019) · PLoS Biology · doi:10.1371/journal.pbio.3000087 · Cited by 38 · see citing works
Choufani, S., McNiven, V., Cytrynbaum, C. S., Jangjoo, M., Adam, M. P., Bjornsson, H. T., Harris, J. R., Dyment, D. A., Graham, G. E., Nezarati, M. M., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.08.014 · Cited by 38 · see citing works
Self-citationEpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases
Turinsky, A. L., Choufani, S., Lu, K., Liu, D., Mashouri, P., Min, D., Weksberg, R., & Brudno, M. (2020) · Human Mutation · doi:10.1002/humu.24076 · Cited by 37 · see citing works
Self-citationDNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders
Siu, M. T., Goodman, S. J., Yellan, I., Butcher, D. T., Jangjoo, M., Grafodatskaya, D., Rajendram, R., Lou, Y., Zhang, R., Zhao, C., et al. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04792-x · Cited by 36 · see citing works
Self-citationBadodi, S., Pomella, N., Zhang, X., Rosser, G., Whittingham, J., Niklison-Chirou, M. V., Lim, Y. M., Brandner, S., Morrison, G. M., Pollard, S. M., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22379-7 · Cited by 37 · see citing works
Al‐Jawahiri, R., Foroutan, A., Kerkhof, J., McConkey, H., Levy, M. A., Haghshenas, S., Rooney, K., Turner, J. E., Shears, D., Holder, M., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.02.013 · Cited by 37 · see citing works
Genetics meets DNA methylation in rare diseases
Velasco, G., & Francastel, C. (2018) · Clinical Genetics · doi:10.1111/cge.13480 · Cited by 36 · see citing works
The significance of the placental genome and methylome in fetal and maternal health
Gobbo, G. F. D., Konwar, C., & Robinson, W. P. (2019) · Human Genetics · doi:10.1007/s00439-019-02058-w · Cited by 32 · see citing works
Husson, T., Lecoquierre, F., Nicolas, G., Richard, A., Afenjar, A., Audebert‐Bellanger, S., Badens, C., Bilan, F., Bizaoui, V., Boland, A., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01474-x · Cited by 31 · see citing works
Self-citationRots, D., Choufani, S., Faùndes, V., Dingemans, A. J. M., Joss, S. K., Foulds, N. C., Jones, E. A., Stewart, S., Vasudevan, P. C., Dabir, T. A., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.06.009 · Cited by 31 · see citing works
Self-citationDeficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nouguès, M., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00256-y · Cited by 31 · see citing works
Epigenetic Deregulation in Human Primary Immunodeficiencies
Campos‐Sánchez, E., Martínez-Cano, J., Molina, L. D. P., López‐Granados, E., & Cobaleda, C. (2018) · Trends in Immunology · doi:10.1016/j.it.2018.11.005 · Cited by 31 · see citing works
Pirozzi, F., Lee, B., Horsley, N., Burkardt, D. D., Dobyns, W. B., Graham, J. M., Dentici, M. L., Cesario, C., Schallner, J., Porrmann, J., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62362 · Cited by 30 · see citing works
Liu, C., Kang, N., Guo, Y., & Gong, P. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.710203 · Cited by 29 · see citing works
Gao, C. W., Lin, W., Riddle, R. C., Kushwaha, P., Boukas, L., Bjornsson, H. T., Hansen, K. D., & Fahrner, J. A. (2023) · JCI Insight · doi:10.1172/jci.insight.173392 · Cited by 29 · see citing works
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology
García‐Cazorla, À., & Saudubray, J. (2018) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-018-0226-8 · Cited by 28 · see citing works
Awamleh, Z., Chater‐Diehl, E., Choufani, S., Wei, E. Y., Kianmahd, R. R., Yu, A., Chad, L., Costain, G., Tan, W., Scherer, S. W., et al. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01083-0 · Cited by 26 · see citing works
Self-citationHuang, J., Bai, L., Cui, B., Wu, L. L., Wang, L., An, Z., Ruan, S., Yu, Y., Zhang, X., & Chen, J. (2020) · Genome biology · doi:10.1186/s13059-020-02001-7 · Cited by 26 · see citing works
Luperchio, T. R., Boukas, L., Zhang, L., Pilarowski, G. O. W., Jiang, J., Kalinousky, A. J., Hansen, K. D., & Bjornsson, H. T. (2021) · eLife · doi:10.7554/elife.65884 · Cited by 28 · see citing works
Clinical and molecular effects of CHD7 in the heart
Corsten‐Janssen, N., & Scambler, P. J. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31590 · Cited by 25 · see citing works
Volpatti, J. R., Ghahramani-Seno, M. M., Mansat, M., Sabha, N. S., Sarikaya, E., Goodman, S. J., Chater‐Diehl, E., Celik, A., Pannia, E., Froment, C., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02468-7 · Cited by 24 · see citing works
Self-citationEpisignature analysis of moderate effects and mosaics
Oexle, K., Zech, M., Stühn, L. G., Siegert, S., Brunet, T., Schmidt, W. M., Wagner, M., Schmidt, A., Engels, H., Tilch, E., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01406-9 · Cited by 24 · see citing works
Sakata, S., Okada, S., Aoyama, K., Hara, K., Tani, C., Kagawa, R., Nakamura‐Utsunomiya, A., Miyagawa, S., Ogata, T., Mizuno, H., et al. (2017) · Frontiers in Genetics · doi:10.3389/fgene.2017.00210 · Cited by 23 · see citing works
Jung, Y. L., Hung, C., Choi, J., Lee, E. A., & Bodamer, O. A. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad059 · Cited by 21 · see citing works
Squeo, G. M., Augello, B., Massa, V., Milani, D., Colombo, E. A., Mazza, T., Castellana, S., Piccione, M., Maitz, S. B., Petracca, A., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106724 · Cited by 20 · see citing works
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
Verberne, E. A., van der Laan, L., Haghshenas, S., Rooney, K., Levy, M. A., Alders, M. M., Maas, S. M., Jansen, S., Liedén, A., Anderlid, B., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23148001 · Cited by 19 · see citing works
Awamleh, Z., Choufani, S., Cytrynbaum, C. S., Alkuraya, F. S., Scherer, S. W., Fernandes, S., Rosas, C., Louro, P., Dias, P., Neves, M. T., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac289 · Cited by 19 · see citing works
Self-citationThe omics era: a nexus of untapped potential for Mendelian chromatinopathies
Nava, A. A., & Arboleda, V. A. (2023) · Human Genetics · doi:10.1007/s00439-023-02560-2 · Cited by 19 · see citing works
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders
Lee, S. L., Menzies, L. A., Hay, E., Ochoa, E., Docquier, F., Rodger, F., Deshpande, C., Foulds, N. C., Jacquemont, S., Jizi, K., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad079 · Cited by 19 · see citing works
Comparison of Methylation Episignatures in KMT2B - and KMT2D -Related Human Disorders
Lee, S. L., Ochoa, E., Barwick, K. E., Cif, L., Rodger, F., Docquier, F., Pérez‐Dueñas, B., Clark, G. R., Martín, J., Banka, S., et al. (2022) · Epigenomics · doi:10.2217/epi-2021-0521 · Cited by 18 · see citing works
Expanded Insights Into Mechanisms of Gene Expression and Disease Related Disruptions
Smith, M., & Flodman, P. L. (2018) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2018.00101 · Cited by 17 · see citing works
Haghshenas, S., Levy, M. A., Kerkhof, J., Aref‐Eshghi, E., McConkey, H., Balcı, T. B., Siu, V. M., Skinner, C. D., Stevenson, R. E., Sadiković, B., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22031111 · Cited by 17 · see citing works
DNA methylation signatures for chromatinopathies: current challenges and future applications
Awamleh, Z., Goodman, S. J., Choufani, S., & Weksberg, R. (2023) · Human Genetics · doi:10.1007/s00439-023-02544-2 · Cited by 17 · see citing works
Self-citationClinical epigenetics: a primer for the practitioner
Aygun, D., & Bjornsson, H. T. (2019) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14398 · Cited by 17 · see citing works
Verrall, C. E., Patel, S., Travitz, L., Tchieu, J. H., Dale, R. C., Kasparian, N. A., Winlaw, D. S., & Blue, G. M. (2023) · Translational Pediatrics · doi:10.21037/tp-22-687 · Cited by 15 · see citing works
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Lee, S. L., Ochoa, E., Badura‐Stronka, M., Donnelly, D., Lederer, D., Lynch, S. A., Gardham, A., Morton, J., Stewart, H. S., Docquier, F., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01422-9 · Cited by 16 · see citing works
Human methylome variation across Infinium 450K data on the Gene Expression Omnibus
Maden, S. K., Thompson, R. F., Hansen, K. D., & Nellore, A. (2021) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqab025 · Cited by 16 · see citing works
Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics
Mannens, M. M. A. M., Lombardi, M. P., Alders, M. M., Henneman, P., & Bliek, J. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.831452 · Cited by 15 · see citing works
Awamleh, Z., Goodman, S. J., Kallurkar, P. S., Wu, W., Lu, K., Choufani, S., Turinsky, A. L., & Weksberg, R. (2022) · Current Protocols · doi:10.1002/cpz1.597 · Cited by 15 · see citing works
Self-citationClinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong
So, P. L., Luk, H., Yu, K. P. T., Cheng, S. S. W., Hau, E. W. L., Ho, S., Lam, S. T. S., & Lo, I. F. M. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62003 · Cited by 15 · see citing works
Sakaguchi, Y., Yoshihashi, H., Uehara, T., Miyama, S., Kosaki, K., & Takenouchi, T. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62020 · Cited by 15 · see citing works
Goodman, S. J., Cytrynbaum, C. S., Chung, B. H., Chater‐Diehl, E., Aziz, C., Turinsky, A. L., Kellam, B., Keller, M., Ko, J. M., Caluseriu, O., et al. (2020) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2020.23 · Cited by 15 · see citing works
Self-citationAberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy
Schulze, K., Bhatt, A. R., Azamian, M. S., Sundgren, N. C., Zapata, G. E., Hernandez, P. P., Fox, K. A., Kaiser, J. R., Belmont, J. W., & Hanchard, N. A. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0516-z · Cited by 14 · see citing works
Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome
Sun, Y., Kumar, S. R., Wong, C. E. D., Tian, Z., Bai, H., Crump, J. G., Bajpai, R., & Lien, C. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1030587 · Cited by 13 · see citing works
Awamleh, Z., Choufani, S., Wu, W., Rots, D., Dingemans, A. J. M., Kasri, N. N., Boronat, S., Ibáñez‐Micó, S., Herraiz, L. C., Ferrer, I., et al. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01538-6 · Cited by 13 · see citing works
Self-citationDon’t brush off buccal data heterogeneity
Turinsky, A. L., Butcher, D. T., Choufani, S., Weksberg, R., & Brudno, M. (2019) · Epigenetics · doi:10.1080/15592294.2019.1581592 · Cited by 13 · see citing works
Self-citationMerdler-Rabinowicz, R., Prat, D. L., Pode‐Shakked, B., Abel, G., Chorin, O., Somech, R., & Raas‐Rothschild, A. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104210 · Cited by 13 · see citing works
Neuroimaging in Kabuki syndrome and another KMT2D ‐related disorder
Stadelmaier, R., Kenna, M. A., Barrett, D. L., Mullen, T. E., Bodamer, O. A., Agrawal, P. B., Robson, C. D., & Wojcik, M. H. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62450 · Cited by 13 · see citing works
Epigenetic studies and pediatric research
Bellanti, J. A. (2019) · Pediatric Research · doi:10.1038/s41390-019-0644-9 · Cited by 13 · see citing works
Giuili, E., Grolaux, R., Macedo, C., Desmyter, L., Pichon, B., Neuens, S., Vilain, C., Olsen, C., Dooren, S. V., Smits, G., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02609-2 · Cited by 12 · see citing works
- Authors
- Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., Dupuis, L., Grafodatskaya, D., Reardon, W., Gilbert-Dussardier, B., Verloes, A., Bilan, F., Milunsky, J. M., Basran, R., Papsin, B., Stockley, T. L., Scherer, S. W., Choufani, S., Brudno, M., & Weksberg, R.
- Affiliations
- Hospital for Sick Children (CA)
- University of Toronto (CA)
- Mount Sinai Hospital (CA)
- Manitoba Harm Reduction Network (CA)
- University of Alberta (CA)
- McMaster University (CA)
- Children's Health Ireland at Crumlin (IE)
- Center for Human Genetics (US)
- University Health Network (CA)
- Corresponding author
- Weksberg, Rosanna
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-05
- Volume
- 100
- Issue
- 5
- Pages
- 773-788
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5420353
- OpenAlex
- W2610666651
- Cited by
- 200
- References
- 92
- Citations by year
- 2026: 12 · 2025: 12 · 2024: 17 · 2023: 27 · 2022: 26 · 2021: 24 · 2020: 29 · 2019: 29 · 2018: 15 · 2017: 7 · 2016: 1
- FWCI
- 13.35
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics › Congenital Ear and Nasal Anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- CHARGE syndrome, Kabuki syndrome, CHD7, KMT2D, DNA methylation signature, epigenetic dysregulation, neurodevelopmental disorders, loss-of-function mutations, HOXA5, phenotypic overlap, epigenetic disorders, disease pathophysiology
- MeSH terms
- Abnormalities, Multiple, Cell Line, DNA Helicases, DNA-Binding Proteins, Face, Gene Expression Regulation, Hematologic Diseases, Humans, Leukocytes, Mononuclear, Mutation, Neoplasm Proteins, Sensitivity and Specificity, Reproducibility of Results, Vestibular Diseases, Genome, Human, Homeodomain Proteins, DNA Methylation, Epigenesis, Genetic, CHARGE Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
