Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called “epis...
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| Published in | American journal of human genetics Vol. 106; no. 3; pp. 356 - 370 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
05.03.2020
Elsevier (Cell Press) Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called “episignatures”). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging patterns of overlap, as well as similarities and hierarchical relationships across these episignatures, to highlight their key features as they are related to genetic heterogeneity, dosage effect, unaffected carrier status, and incomplete penetrance. We demonstrate the necessity of multiclass modeling for accurate genetic variant classification and show how disease classification using a single episignature at a time can sometimes lead to classification errors in closely related episignatures. We demonstrate the utility of this tool in resolving ambiguous clinical cases and identification of previously undiagnosed cases through mass screening of a large cohort of subjects with developmental delays and congenital anomalies. This study more than doubles the number of published syndromes with DNA methylation episignatures and, most significantly, opens new avenues for accurate diagnosis and clinical assessment in individuals affected by these disorders. |
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| AbstractList | Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called “episignatures”). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging patterns of overlap, as well as similarities and hierarchical relationships across these episignatures, to highlight their key features as they are related to genetic heterogeneity, dosage effect, unaffected carrier status, and incomplete penetrance. We demonstrate the necessity of multiclass modeling for accurate genetic variant classification and show how disease classification using a single episignature at a time can sometimes lead to classification errors in closely related episignatures. We demonstrate the utility of this tool in resolving ambiguous clinical cases and identification of previously undiagnosed cases through mass screening of a large cohort of subjects with developmental delays and congenital anomalies. This study more than doubles the number of published syndromes with DNA methylation episignatures and, most significantly, opens new avenues for accurate diagnosis and clinical assessment in individuals affected by these disorders. Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging patterns of overlap, as well as similarities and hierarchical relationships across these episignatures, to highlight their key features as they are related to genetic heterogeneity, dosage effect, unaffected carrier status, and incomplete penetrance. We demonstrate the necessity of multiclass modeling for accurate genetic variant classification and show how disease classification using a single episignature at a time can sometimes lead to classification errors in closely related episignatures. We demonstrate the utility of this tool in resolving ambiguous clinical cases and identification of previously undiagnosed cases through mass screening of a large cohort of subjects with developmental delays and congenital anomalies. This study more than doubles the number of published syndromes with DNA methylation episignatures and, most significantly, opens new avenues for accurate diagnosis and clinical assessment in individuals affected by these disorders.Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging patterns of overlap, as well as similarities and hierarchical relationships across these episignatures, to highlight their key features as they are related to genetic heterogeneity, dosage effect, unaffected carrier status, and incomplete penetrance. We demonstrate the necessity of multiclass modeling for accurate genetic variant classification and show how disease classification using a single episignature at a time can sometimes lead to classification errors in closely related episignatures. We demonstrate the utility of this tool in resolving ambiguous clinical cases and identification of previously undiagnosed cases through mass screening of a large cohort of subjects with developmental delays and congenital anomalies. This study more than doubles the number of published syndromes with DNA methylation episignatures and, most significantly, opens new avenues for accurate diagnosis and clinical assessment in individuals affected by these disorders. |
| Author | Raynaud, Martine de Leeuw, Nicole Aref-Eshghi, Erfan Skinner, Steven A. Tartaglia, Marco Henneman, Peter Barat-Houari, Mouna Ciolfi, Andrea Kadour, Mike Hennekam, Raoul C. Genevieve, David Pedro, Victor P. Alders, Mariëlle Mignot, Cyril Kerkhof, Jennifer Whalen, Sandra Schwartz, Charles E. Ulveling, Damien Afenjar, Alexandra Lin, Hanxin Keren, Boris Dubourg, Christèle Sanlaville, Damien Vitobello, Antonio Mannens, Marcel Gecz, Jozef Tedder, Matt Ainsworth, Peter J. Siu, Victoria Mok Shaw, Marie Cormier-Daire, Valerie Friez, Michael J. Balci, Tugce B. Pizzi, Simone Rondeau, Sophie Lacombe, Didier Héron, Delphine Masters, Jennifer Andrau, Jean-Christophe Fergelot, Patricia Laumonnier, Frederic Lesca, Gaetan Thauvin-Robinet, Christel Brick, Lauren Rousseau, Justine Kleefstra, Tjitske Lee, Jennifer A. Lecoquierre, François Saugier-Veber, Pascale Francastel, Claire Rodenhiser, David I. DuPont, Barbara R. Heide, Solveig Kozenko, Mariya Levy, Michael A. Takano, Kyoko Field, Michael Chatron, Nicolas Sadikovic, Bekim Nicolas, Gaël Van-Gils, Julien Stuart |
| AuthorAffiliation | Groupe DI, French Rare Disease Network filière AnDDI-Rare France |
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givenname: Michael J. surname: Friez fullname: Friez, Michael J. organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 61 givenname: Matt surname: Tedder fullname: Tedder, Matt organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 62 givenname: Jennifer A. surname: Lee fullname: Lee, Jennifer A. organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 63 givenname: Barbara R. surname: DuPont fullname: DuPont, Barbara R. organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 64 givenname: Roger E. surname: Stevenson fullname: Stevenson, Roger E. organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 65 givenname: Steven A. surname: Skinner fullname: Skinner, Steven A. organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 66 givenname: Charles E. surname: Schwartz fullname: Schwartz, Charles E. organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 67 givenname: David surname: Genevieve fullname: Genevieve, David organization: Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1183—Institute for Regenerative Medicine and Biotherapy, Montpellier University, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France – sequence: 68 givenname: Bekim surname: Sadikovic fullname: Sadikovic, Bekim email: Bekim.Sadikovic@lhsc.on.ca organization: Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32109418$$D View this record in MEDLINE/PubMed https://normandie-univ.hal.science/hal-02538107$$DView record in HAL |
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| Cites_doi | 10.1186/s13148-018-0453-8 10.1186/s13059-019-1753-9 10.1042/EBC20190056 10.1038/nrg1655 10.1016/j.ajhg.2019.03.008 10.1111/dmcn.14398 10.1111/cge.13480 10.1038/ncomms13507 10.1186/s13148-019-0749-3 10.1002/ajmg.a.36416 10.3389/fonc.2018.00100 10.1038/gim.2015.30 10.1038/s41467-018-04540-x 10.1038/s41467-018-07193-y 10.1038/nature14176 10.1186/s13148-019-0804-0 10.1038/s41436-019-0516-z 10.1016/j.jmoldx.2017.07.002 10.1038/nature11316 10.1080/15592294.2017.1381807 10.1093/bioinformatics/btu049 10.1371/journal.pone.0166486 10.1371/journal.pone.0067378 10.1016/j.ajhg.2017.12.008 10.1093/hmg/ddy130 10.1186/1471-2105-13-86 10.1186/s13148-019-0658-5 10.1101/gr.190629.115 10.1086/507047 10.1101/gr.092759.109 10.1186/s12864-015-2034-y 10.1186/s13059-017-1374-0 10.1002/humu.23833 10.1186/s12891-015-0745-5 10.1038/s41467-018-04732-5 10.1371/journal.pone.0041361 10.1111/acel.12349 10.2217/epi-2018-0192 10.1093/nar/gkv007 |
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| References | Aref-Eshghi, Bend, Hood, Schenkel, Carere, Chakrabarti, Nagamani, Cheung, Campeau, Prasad (bib18) 2018; 9 Velasco, Grillo, Touleimat, Ferry, Ivkovic, Ribierre, Deleuze, Chantalat, Picard, Francastel (bib21) 2018; 27 Krzywinski, Schein, Birol, Connors, Gascoyne, Horsman, Jones, Marra (bib33) 2009; 19 Nascimento, Otto, de Brouwer, Vianna-Morgante (bib38) 2006; 79 Aref-Eshghi, Schenkel, Lin, Skinner, Ainsworth, Paré, Siu, Rodenhiser, Schwartz, Sadikovic (bib14) 2017; 19 Ritchie, Phipson, Wu, Hu, Law, Shi, Smyth (bib31) 2015; 43 Platt (bib35) 2000 Yousefi, Huen, Davé, Barcellos, Eskenazi, Holland (bib1) 2015; 16 Robertson (bib6) 2005; 6 Schenkel, Aref-Eshghi, Skinner, Ainsworth, Lin, Paré, Rodenhiser, Schwartz, Sadikovic (bib15) 2018; 10 Van Baak, Coarfa, Dugué, Fiorito, Laritsky, Baker, Kessler, Dong, Duryea, Silver (bib27) 2018; 19 Ciolfi, Aref-Eshghi (bib20) 2020; 12 Aref-Eshghi, Schenkel, Carere, Rodenhiser, Sadikovic (bib41) 2018 Kular, Liu, Ruhrmann, Zheleznyakova, Marabita, Gomez-Cabrero, James, Ewing, Lindén, Górnikiewicz (bib24) 2018; 9 Barbosa, Joshi, Garg, Martin-Trujillo, Patel, Jadhav, Watson, Gibson, Chetnik, Tessereau (bib29) 2018; 9 Aref-Eshghi, Schenkel, Lin, Skinner, Ainsworth, Paré, Rodenhiser, Schwartz, Sadikovic (bib17) 2017; 12 Martin-Herranz, Aref-Eshghi, Bonder, Stubbs, Choufani, Weksberg, Stegle, Sadikovic, Reik, Thornton (bib2) 2019; 20 Maaten, Hinton (bib34) 2008; 9 Velasco, Francastel (bib7) 2019; 95 Krzyzewska, Maas, Henneman, Lip, Venema, Baranano, Chassevent, Aref-Eshghi, van Essen, Fukuda (bib42) 2019; 1 Bjornsson (bib22) 2015; 25 Schulze, Bhatt, Azamian, Sundgren, Zapata, Hernandez, Fox, Kaiser, Belmont, Hanchard (bib9) 2019; 21 Guerra, Oliveira-Santos, Oliveira, Leal, Oliveira, Costa, Krepischi, Vianna-Morgante, Maschietto (bib8) 2019 Godler, Amor (bib44) 2019; 63 Tan, Bird, Thibert, Williams (bib39) 2014; 164A Aref-Eshghi, Bourque, Kerkhof, Carere, Ainsworth, Sadikovic, Armour, Lin (bib16) 2019; 40 Krzyzewska, Maas, Henneman, Lip, Venema, Baranano, Chassevent, Aref-Eshghi, van Essen, Fukuda (bib19) 2019; 11 Jones, Goodman, Kobor (bib5) 2015; 14 Richards, Aziz, Bale, Bick, Das, Gastier-Foster, Grody, Hegde, Lyon, Spector (bib23) 2015; 17 Su, Wang, Campbell, Porter, Pittman, Bennett, Wan, Englert, Crowl, Gimple (bib25) 2016; 11 Sadikovic, Aref-Eshghi, Levy, Rodenhiser (bib11) 2019; 11 Johansson, Enroth, Gyllensten (bib26) 2013; 8 Aryee, Jaffe, Corrada-Bravo, Ladd-Acosta, Feinberg, Hansen, Irizarry (bib30) 2014; 30 Aref-Eshghi, Rodenhiser, Schenkel, Lin, Skinner, Ainsworth, Paré, Hood, Bulman, Kernohan (bib12) 2018; 102 Aref-Eshghi, Bend, Colaiacovo, Caudle, Chakrabarti, Napier, Brick, Brady, Carere, Levy (bib13) 2019; 104 Aygun, Bjornsson (bib40) 2020; 62 Baubec, Colombo, Wirbelauer, Schmidt, Burger, Krebs, Akalin, Schübeler (bib43) 2015; 7546 Aref-Eshghi, Schenkel, Ainsworth, Lin, Rodenhiser, Cutz, Sadikovic (bib4) 2018; 8 Deardorff, Bando, Nakato, Watrin, Itoh, Minamino, Saitoh, Komata, Katou, Clark (bib37) 2012; 489 Houseman, Accomando, Koestler, Christensen, Marsit, Nelson, Wiencke, Kelsey (bib32) 2012; 13 Reinius, Acevedo, Joerink, Pershagen, Dahlén, Greco, Söderhäll, Scheynius, Kere (bib36) 2012; 7 Aref-Eshghi, Zhang, Liu, Harper, Martin, Furey, Green, Sun, Rahman, Zhai (bib3) 2015; 16 Bend, Aref-Eshghi, Everman, Rogers, Cathey, Prijoles, Lyons, Davis, Clarkson, Gripp (bib10) 2019; 11 Ventham, Kennedy, Adams, Kalla, Heath, O’Leary, Drummond, Wilson, Gut, Nimmo, Satsangi (bib28) 2016; 7 Tan (10.1016/j.ajhg.2020.01.019_bib39) 2014; 164A Jones (10.1016/j.ajhg.2020.01.019_bib5) 2015; 14 Bend (10.1016/j.ajhg.2020.01.019_bib10) 2019; 11 Krzywinski (10.1016/j.ajhg.2020.01.019_bib33) 2009; 19 Reinius (10.1016/j.ajhg.2020.01.019_bib36) 2012; 7 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib14) 2017; 19 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib3) 2015; 16 Aryee (10.1016/j.ajhg.2020.01.019_bib30) 2014; 30 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib16) 2019; 40 Guerra (10.1016/j.ajhg.2020.01.019_bib8) 2019 Sadikovic (10.1016/j.ajhg.2020.01.019_bib11) 2019; 11 Yousefi (10.1016/j.ajhg.2020.01.019_bib1) 2015; 16 Krzyzewska (10.1016/j.ajhg.2020.01.019_bib42) 2019; 1 Deardorff (10.1016/j.ajhg.2020.01.019_bib37) 2012; 489 Schulze (10.1016/j.ajhg.2020.01.019_bib9) 2019; 21 Velasco (10.1016/j.ajhg.2020.01.019_bib21) 2018; 27 Velasco (10.1016/j.ajhg.2020.01.019_bib7) 2019; 95 Nascimento (10.1016/j.ajhg.2020.01.019_bib38) 2006; 79 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib41) 2018 Barbosa (10.1016/j.ajhg.2020.01.019_bib29) 2018; 9 Van Baak (10.1016/j.ajhg.2020.01.019_bib27) 2018; 19 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib12) 2018; 102 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib18) 2018; 9 Platt (10.1016/j.ajhg.2020.01.019_bib35) 2000 Aygun (10.1016/j.ajhg.2020.01.019_bib40) 2020; 62 Bjornsson (10.1016/j.ajhg.2020.01.019_bib22) 2015; 25 Ventham (10.1016/j.ajhg.2020.01.019_bib28) 2016; 7 Schenkel (10.1016/j.ajhg.2020.01.019_bib15) 2018; 10 Su (10.1016/j.ajhg.2020.01.019_bib25) 2016; 11 Krzyzewska (10.1016/j.ajhg.2020.01.019_bib19) 2019; 11 Ritchie (10.1016/j.ajhg.2020.01.019_bib31) 2015; 43 Baubec (10.1016/j.ajhg.2020.01.019_bib43) 2015; 7546 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib4) 2018; 8 Johansson (10.1016/j.ajhg.2020.01.019_bib26) 2013; 8 Maaten (10.1016/j.ajhg.2020.01.019_bib34) 2008; 9 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib13) 2019; 104 Robertson (10.1016/j.ajhg.2020.01.019_bib6) 2005; 6 Ciolfi (10.1016/j.ajhg.2020.01.019_bib20) 2020; 12 Richards (10.1016/j.ajhg.2020.01.019_bib23) 2015; 17 Aref-Eshghi (10.1016/j.ajhg.2020.01.019_bib17) 2017; 12 Kular (10.1016/j.ajhg.2020.01.019_bib24) 2018; 9 Martin-Herranz (10.1016/j.ajhg.2020.01.019_bib2) 2019; 20 Houseman (10.1016/j.ajhg.2020.01.019_bib32) 2012; 13 Godler (10.1016/j.ajhg.2020.01.019_bib44) 2019; 63 |
| References_xml | – volume: 8 start-page: e67378 year: 2013 ident: bib26 article-title: Continuous aging of the human DNA methylome throughout the human lifespan publication-title: PLoS ONE – volume: 19 start-page: 1639 year: 2009 end-page: 1645 ident: bib33 article-title: Circos: an information aesthetic for comparative genomics publication-title: Genome Res. – volume: 11 start-page: 563 year: 2019 end-page: 575 ident: bib11 article-title: DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype publication-title: Epigenomics – volume: 164A start-page: 975 year: 2014 end-page: 992 ident: bib39 article-title: If not Angelman, what is it? A review of Angelman-like syndromes publication-title: Am. J. Med. Genet. A. – volume: 21 start-page: 2453 year: 2019 end-page: 2461 ident: bib9 article-title: Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy publication-title: Genet. Med. – volume: 489 start-page: 313 year: 2012 end-page: 317 ident: bib37 article-title: HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle publication-title: Nature – volume: 79 start-page: 549 year: 2006 end-page: 555 ident: bib38 article-title: UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome publication-title: Am. J. Hum. Genet. – volume: 9 start-page: 2064 year: 2018 ident: bib29 article-title: Identification of rare de novo epigenetic variations in congenital disorders publication-title: Nat. Commun. – volume: 7 start-page: 13507 year: 2016 ident: bib28 article-title: Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease publication-title: Nat. Commun. – volume: 19 start-page: 848 year: 2017 end-page: 856 ident: bib14 article-title: Clinical validation of a genome-wide DNA methylation assay for molecular diagnosis of imprinting disorders publication-title: J. Mol. Diagn. – volume: 27 start-page: 2409 year: 2018 end-page: 2424 ident: bib21 article-title: Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state publication-title: Hum. Mol. Genet. – volume: 13 start-page: 86 year: 2012 ident: bib32 article-title: DNA methylation arrays as surrogate measures of cell mixture distribution publication-title: BMC Bioinformatics – volume: 25 start-page: 1473 year: 2015 end-page: 1481 ident: bib22 article-title: The Mendelian disorders of the epigenetic machinery publication-title: Genome Res. – volume: 12 start-page: 7 year: 2020 ident: bib20 article-title: Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature publication-title: Clin. Epigenetics – volume: 40 start-page: 1684 year: 2019 end-page: 1689 ident: bib16 article-title: Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome publication-title: Hum. Mutat. – volume: 20 start-page: 146 year: 2019 ident: bib2 article-title: Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1 publication-title: Genome Biol. – volume: 7546 start-page: 243 year: 2015 end-page: 247 ident: bib43 article-title: Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation publication-title: Nature – volume: 6 start-page: 597 year: 2005 end-page: 610 ident: bib6 article-title: DNA methylation and human disease publication-title: Nat. Rev. Genet. – volume: 10 start-page: 21 year: 2018 ident: bib15 article-title: Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in publication-title: Clin. Epigenetics – volume: 43 start-page: e47 year: 2015 ident: bib31 article-title: limma powers differential expression analyses for RNA-sequencing and microarray studies publication-title: Nucleic Acids Res. – volume: 9 start-page: 2579 year: 2008 end-page: 2605 ident: bib34 article-title: Visualizing data using t-SNE publication-title: J. Mach. Learn. Res. – volume: 16 start-page: 911 year: 2015 ident: bib1 article-title: Sex differences in DNA methylation assessed by 450 K BeadChip in newborns publication-title: BMC Genomics – volume: 11 start-page: e0166486 year: 2016 ident: bib25 article-title: Distinct epigenetic effects of tobacco smoking in whole blood and among leukocyte subtypes publication-title: PLoS ONE – volume: 16 start-page: 287 year: 2015 ident: bib3 article-title: Genome-wide DNA methylation study of hip and knee cartilage reveals embryonic organ and skeletal system morphogenesis as major pathways involved in osteoarthritis publication-title: BMC Musculoskelet. Disord. – volume: 95 start-page: 210 year: 2019 end-page: 220 ident: bib7 article-title: Genetics meets DNA methylation in rare diseases publication-title: Clin. Genet. – volume: 63 start-page: 785 year: 2019 end-page: 795 ident: bib44 article-title: DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders publication-title: Essays Biochem. – volume: 9 start-page: 2397 year: 2018 ident: bib24 article-title: DNA methylation as a mediator of HLA-DRB1 publication-title: Nat. Commun. – volume: 7 start-page: e41361 year: 2012 ident: bib36 article-title: Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility publication-title: PLoS ONE – volume: 30 start-page: 1363 year: 2014 end-page: 1369 ident: bib30 article-title: Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays publication-title: Bioinformatics – volume: 102 start-page: 156 year: 2018 end-page: 174 ident: bib12 article-title: Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes publication-title: Am. J. Hum. Genet. – volume: 17 start-page: 405 year: 2015 end-page: 424 ident: bib23 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet. Med. – volume: 11 start-page: 64 year: 2019 ident: bib10 article-title: Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome publication-title: Clin. Epigenetics – volume: 14 start-page: 924 year: 2015 end-page: 932 ident: bib5 article-title: DNA methylation and healthy human aging publication-title: Aging Cell – volume: 12 start-page: 923 year: 2017 end-page: 933 ident: bib17 article-title: The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance publication-title: Epigenetics – start-page: 61 year: 2000 end-page: 74 ident: bib35 article-title: Probabilities for support vector machines publication-title: Advances in large margin classifiers – start-page: 837 year: 2018 end-page: 859 ident: bib41 article-title: Epigenomic Mechanisms of Human Developmental Disorders publication-title: Epigenetics in Human Disease – volume: 19 start-page: 2 year: 2018 ident: bib27 article-title: Epigenetic supersimilarity of monozygotic twin pairs publication-title: Genome Biol. – volume: 62 start-page: 192 year: 2020 end-page: 200 ident: bib40 article-title: Clinical epigenetics: a primer for the practitioner publication-title: Dev. Med. Child Neurol. – volume: 1 start-page: 156 year: 2019 ident: bib42 article-title: A genome-wide DNA methylation signature for SETD1B-related syndrome publication-title: Clin. Epigenetics – volume: 8 start-page: 100 year: 2018 ident: bib4 article-title: Genomic DNA methylation-derived algorithm enables accurate detection of malignant prostate tissues publication-title: Front. Oncol. – volume: 9 start-page: 4885 year: 2018 ident: bib18 article-title: BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes publication-title: Nat. Commun. – year: 2019 ident: bib8 article-title: DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation publication-title: Eur. J. Med. Genet. – volume: 104 start-page: 685 year: 2019 end-page: 700 ident: bib13 article-title: Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions publication-title: Am. J. Hum. Genet. – volume: 11 start-page: 156 year: 2019 ident: bib19 article-title: A genome-wide DNA methylation signature for SETD1B-related syndrome publication-title: Clin. Epigenetics – volume: 10 start-page: 21 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib15 article-title: Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C publication-title: Clin. Epigenetics doi: 10.1186/s13148-018-0453-8 – volume: 20 start-page: 146 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib2 article-title: Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1 publication-title: Genome Biol. doi: 10.1186/s13059-019-1753-9 – volume: 63 start-page: 785 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib44 article-title: DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders publication-title: Essays Biochem. doi: 10.1042/EBC20190056 – volume: 6 start-page: 597 year: 2005 ident: 10.1016/j.ajhg.2020.01.019_bib6 article-title: DNA methylation and human disease publication-title: Nat. Rev. Genet. doi: 10.1038/nrg1655 – volume: 104 start-page: 685 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib13 article-title: Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2019.03.008 – volume: 62 start-page: 192 year: 2020 ident: 10.1016/j.ajhg.2020.01.019_bib40 article-title: Clinical epigenetics: a primer for the practitioner publication-title: Dev. Med. Child Neurol. doi: 10.1111/dmcn.14398 – volume: 95 start-page: 210 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib7 article-title: Genetics meets DNA methylation in rare diseases publication-title: Clin. Genet. doi: 10.1111/cge.13480 – volume: 7 start-page: 13507 year: 2016 ident: 10.1016/j.ajhg.2020.01.019_bib28 article-title: Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease publication-title: Nat. Commun. doi: 10.1038/ncomms13507 – volume: 11 start-page: 156 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib19 article-title: A genome-wide DNA methylation signature for SETD1B-related syndrome publication-title: Clin. Epigenetics doi: 10.1186/s13148-019-0749-3 – volume: 164A start-page: 975 year: 2014 ident: 10.1016/j.ajhg.2020.01.019_bib39 article-title: If not Angelman, what is it? A review of Angelman-like syndromes publication-title: Am. J. Med. Genet. A. doi: 10.1002/ajmg.a.36416 – year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib8 article-title: DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation publication-title: Eur. J. Med. Genet. – volume: 1 start-page: 156 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib42 article-title: A genome-wide DNA methylation signature for SETD1B-related syndrome publication-title: Clin. Epigenetics doi: 10.1186/s13148-019-0749-3 – volume: 8 start-page: 100 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib4 article-title: Genomic DNA methylation-derived algorithm enables accurate detection of malignant prostate tissues publication-title: Front. Oncol. doi: 10.3389/fonc.2018.00100 – volume: 17 start-page: 405 year: 2015 ident: 10.1016/j.ajhg.2020.01.019_bib23 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet. Med. doi: 10.1038/gim.2015.30 – volume: 9 start-page: 2064 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib29 article-title: Identification of rare de novo epigenetic variations in congenital disorders publication-title: Nat. Commun. doi: 10.1038/s41467-018-04540-x – volume: 9 start-page: 4885 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib18 article-title: BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes publication-title: Nat. Commun. doi: 10.1038/s41467-018-07193-y – volume: 7546 start-page: 243 year: 2015 ident: 10.1016/j.ajhg.2020.01.019_bib43 article-title: Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation publication-title: Nature doi: 10.1038/nature14176 – volume: 12 start-page: 7 year: 2020 ident: 10.1016/j.ajhg.2020.01.019_bib20 article-title: Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature publication-title: Clin. Epigenetics doi: 10.1186/s13148-019-0804-0 – start-page: 837 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib41 article-title: Epigenomic Mechanisms of Human Developmental Disorders – volume: 21 start-page: 2453 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib9 article-title: Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy publication-title: Genet. Med. doi: 10.1038/s41436-019-0516-z – volume: 19 start-page: 848 year: 2017 ident: 10.1016/j.ajhg.2020.01.019_bib14 article-title: Clinical validation of a genome-wide DNA methylation assay for molecular diagnosis of imprinting disorders publication-title: J. Mol. Diagn. doi: 10.1016/j.jmoldx.2017.07.002 – volume: 489 start-page: 313 year: 2012 ident: 10.1016/j.ajhg.2020.01.019_bib37 article-title: HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle publication-title: Nature doi: 10.1038/nature11316 – volume: 12 start-page: 923 year: 2017 ident: 10.1016/j.ajhg.2020.01.019_bib17 article-title: The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance publication-title: Epigenetics doi: 10.1080/15592294.2017.1381807 – volume: 30 start-page: 1363 year: 2014 ident: 10.1016/j.ajhg.2020.01.019_bib30 article-title: Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays publication-title: Bioinformatics doi: 10.1093/bioinformatics/btu049 – volume: 11 start-page: e0166486 year: 2016 ident: 10.1016/j.ajhg.2020.01.019_bib25 article-title: Distinct epigenetic effects of tobacco smoking in whole blood and among leukocyte subtypes publication-title: PLoS ONE doi: 10.1371/journal.pone.0166486 – volume: 8 start-page: e67378 year: 2013 ident: 10.1016/j.ajhg.2020.01.019_bib26 article-title: Continuous aging of the human DNA methylome throughout the human lifespan publication-title: PLoS ONE doi: 10.1371/journal.pone.0067378 – start-page: 61 year: 2000 ident: 10.1016/j.ajhg.2020.01.019_bib35 article-title: Probabilities for support vector machines – volume: 102 start-page: 156 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib12 article-title: Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2017.12.008 – volume: 9 start-page: 2579 year: 2008 ident: 10.1016/j.ajhg.2020.01.019_bib34 article-title: Visualizing data using t-SNE publication-title: J. Mach. Learn. Res. – volume: 27 start-page: 2409 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib21 article-title: Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddy130 – volume: 13 start-page: 86 year: 2012 ident: 10.1016/j.ajhg.2020.01.019_bib32 article-title: DNA methylation arrays as surrogate measures of cell mixture distribution publication-title: BMC Bioinformatics doi: 10.1186/1471-2105-13-86 – volume: 11 start-page: 64 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib10 article-title: Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome publication-title: Clin. Epigenetics doi: 10.1186/s13148-019-0658-5 – volume: 25 start-page: 1473 year: 2015 ident: 10.1016/j.ajhg.2020.01.019_bib22 article-title: The Mendelian disorders of the epigenetic machinery publication-title: Genome Res. doi: 10.1101/gr.190629.115 – volume: 79 start-page: 549 year: 2006 ident: 10.1016/j.ajhg.2020.01.019_bib38 article-title: UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome publication-title: Am. J. Hum. Genet. doi: 10.1086/507047 – volume: 19 start-page: 1639 year: 2009 ident: 10.1016/j.ajhg.2020.01.019_bib33 article-title: Circos: an information aesthetic for comparative genomics publication-title: Genome Res. doi: 10.1101/gr.092759.109 – volume: 16 start-page: 911 year: 2015 ident: 10.1016/j.ajhg.2020.01.019_bib1 article-title: Sex differences in DNA methylation assessed by 450 K BeadChip in newborns publication-title: BMC Genomics doi: 10.1186/s12864-015-2034-y – volume: 19 start-page: 2 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib27 article-title: Epigenetic supersimilarity of monozygotic twin pairs publication-title: Genome Biol. doi: 10.1186/s13059-017-1374-0 – volume: 40 start-page: 1684 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib16 article-title: Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome publication-title: Hum. Mutat. doi: 10.1002/humu.23833 – volume: 16 start-page: 287 year: 2015 ident: 10.1016/j.ajhg.2020.01.019_bib3 article-title: Genome-wide DNA methylation study of hip and knee cartilage reveals embryonic organ and skeletal system morphogenesis as major pathways involved in osteoarthritis publication-title: BMC Musculoskelet. Disord. doi: 10.1186/s12891-015-0745-5 – volume: 9 start-page: 2397 year: 2018 ident: 10.1016/j.ajhg.2020.01.019_bib24 article-title: DNA methylation as a mediator of HLA-DRB1∗15:01 and a protective variant in multiple sclerosis publication-title: Nat. Commun. doi: 10.1038/s41467-018-04732-5 – volume: 7 start-page: e41361 year: 2012 ident: 10.1016/j.ajhg.2020.01.019_bib36 article-title: Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility publication-title: PLoS ONE doi: 10.1371/journal.pone.0041361 – volume: 14 start-page: 924 year: 2015 ident: 10.1016/j.ajhg.2020.01.019_bib5 article-title: DNA methylation and healthy human aging publication-title: Aging Cell doi: 10.1111/acel.12349 – volume: 11 start-page: 563 year: 2019 ident: 10.1016/j.ajhg.2020.01.019_bib11 article-title: DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype publication-title: Epigenomics doi: 10.2217/epi-2018-0192 – volume: 43 start-page: e47 year: 2015 ident: 10.1016/j.ajhg.2020.01.019_bib31 article-title: limma powers differential expression analyses for RNA-sequencing and microarray studies publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkv007 |
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| Title | Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders |
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