Ferguson-Smith AC. Genomic imprinting: the emergence of an epigenetic paradigm. Nat Rev Genet. 2011;18:565–75.
Article
Google Scholar
Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, et al. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res. 2014;24:554–69.
Article
CAS
Google Scholar
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, et al. DNA methylation profiling of uniparental disomy subjects provides a map of parental epigenetic bias in the human genome. Am J Hum Genet. 2016;99:555–66.
Article
CAS
Google Scholar
Mackay DJG, Temple IK. Human imprinting disorders: principles, practice, problems and progress. Eur J Med Genet. 2017;60:618–26.
Article
Google Scholar
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, et al. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. 2017;19:1356–66.
Article
Google Scholar
Habib WA, Brioude F, Azzi S, Rossignol S, Linglart A, Sobrier ML, et al. Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders. Sci Adv. 2019;5:9425.
Article
Google Scholar
Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105–24.
Article
CAS
Google Scholar
Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical–genotypical correlations in Silver–Russell syndrome. J Med Genet. 2015;52:446–53.
Article
CAS
Google Scholar
Eggermann T, Begemann M, Binder G, Spengler S. Silver–Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis. 2010;5:19.
Article
Google Scholar
Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J Med Genet. 2014;51:495–501.
Article
CAS
Google Scholar
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader–Willi syndrome. Genet Med. 2012;14:10–26.
Article
CAS
Google Scholar
Angulo MA, Butler MG, Cataletto ME. Prader–Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015;38:1249–63.
Article
CAS
Google Scholar
Tang Q, Cheng J, Cao X, Surowy H, Burwinkel B. Blood-based DNA methylation as biomarker for breast cancer: a systematic review. Clin Epigenet. 2016;8:115.
Article
Google Scholar
Sujit KM, Sarkar S, Singh V, Pandey R, Agrawal NK, Trivedi S, et al. Genome-wide differential methylation analyses identifies methylation signatures of male infertility. Hum Reprod. 2018;33:2256–67.
Article
CAS
Google Scholar
Yeung KR, Chiu CL, Pidsley R, Makris A, Hennessy A, Lind JM. DNA methylation profiles in preeclampsia and healthy control placentas. Am J Physiol Heart Circ Physiol. 2016;310:H1295–303.
Article
Google Scholar
Prickett AR, Ishida M, Bohm S, Frost JM, Puszyk W, Abu-Amero S, et al. Genome-wide methylation analysis in Silver–Russell syndrome patients. Hum Genet. 2015;134:317–32.
Article
CAS
Google Scholar
Wu D, Gong C, Su C. Genome-wide analysis of differential DNA methylation in Silver–Russell syndrome. Sci China Life Sci. 2017;60:692–9.
CAS
PubMed
Google Scholar
Muurinen M, Hannula-Jouppi K, Reinius LE, Soderhall C, Merid SK, Bergstrom A, et al. Hypomethylation of HOXA4 promoter is common in Silver–Russell syndrome and growth restriction and associates with stature in healthy children. Sci Rep. 2017;7:15693.
Article
Google Scholar
Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, et al. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat. 2013;34:595–602.
CAS
PubMed
Google Scholar
Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, et al. Molecular and clinical findings and their correlations in Silver–Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas. J Mol Med (Berl). 2008;86:1171–81.
Article
CAS
Google Scholar
Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, et al. Molecular and clinical studies in 138 Japanese patients with Silver–Russell syndrome. PLoS ONE. 2013;8:e60105.
Article
CAS
Google Scholar
Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, et al. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami–Ogata syndrome. Genet Med. 2017;19:476–82.
Article
CAS
Google Scholar
Horvath S. DNA methylation age of human tissues and cell types. Genome Biol. 2013;14:R115.
Article
Google Scholar
Hannum G, Guinney J, Zhao L, Zhang L, Hughes G, Sadda S, et al. Genome-wide methylation profiles reveal quantitative views of human aging rates. Mol Cell. 2013;49:359–67.
Article
CAS
Google Scholar
Alisch RS, Barwick BG, Chopra P, Myrick LK, Satten GA, Conneely KN, et al. Age-associated DNA methylation in pediatric populations. Genome Res. 2012;22:623–32.
Article
CAS
Google Scholar
Chen Y, Lemire M, Choufani S, Butcher DT, Grafodatskaya D, Zanke BW, et al. Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics. 2013;8:203–9.
Article
CAS
Google Scholar
Thompson EE, Nicodemus-Johnson J, Kim KW, Gern JE, Jackson DJ, Lemanske RF, et al. Global DNA methylation changes spanning puberty are near predicted estrogen responsive genes and enriched for genes involved in endocrine and immune processes. Clin Epigenet. 2018;10:62.
Article
Google Scholar
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, et al. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. Epigenetics. 2018;13:117–21.
Article
Google Scholar
Arima T, Kamikihara T, Hayashida T, Kato K, Inoue T, Shirayoshi Y, et al. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith–Wiedemann syndrome. Nucleic Acids Res. 2005;33:2650–60.
Article
CAS
Google Scholar
Begemann M, Spengler S, Kordass U, Schroder C, Eggermann T. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation. Am J Med Genet A. 2012;158a:423–8.
Article
Google Scholar
MacDonald WA, Mann MRW. Long noncoding RNA functionality in imprinted domain regulation. PLoS Genet. 2020;16:e1008930.
Article
CAS
Google Scholar
Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, et al. Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions. Clin Epigenet. 2019;11:36.
Article
Google Scholar
Matsubara K, Murakami N, Nagai T, Ogata T. Maternal age effect on the development of Prader–Willi syndrome resulting from UPD(15)mat through meiosis 1 errors. J Hum Genet. 2011;56:566–71.
Article
Google Scholar
Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, et al. Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A. 2005;138A:127–32.
Article
Google Scholar
Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T. Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet. 2012;20:928–32.
Article
CAS
Google Scholar
Morris TJ, Butcher LM, Feber A, Teschendorff AE, Chakravarthy AR, Wojdacz TK, et al. ChAMP: 450k chip analysis methylation pipeline. Bioinformatics. 2014;30:428–30.
Article
CAS
Google Scholar
Johnson WE, Li C, Rabinovic A. Adjusting batch effects in microarray expression data using empirical Bayes methods. Biostatistics. 2007;8:118–27.
Article
Google Scholar
Rezwan FI, Docherty LE, Poole RL, Lockett GA, Arshad SH, Holloway JW, et al. A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders. Clin Epigenet. 2015;7:48.
Article
Google Scholar
Docherty LE, Rezwan FI, Poole RL, Jagoe H, Lake H, Lockee GA, et al. Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. J Med Genet. 2014;51:229–38.
Article
CAS
Google Scholar
Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Pare G, et al. Clinical validation of a genome-wide DNA methylation assay for molecular diagnosis of imprinting disorders. J Mol Diagn. 2017;19:848–56.
Article
CAS
Google Scholar