{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:55:38Z","timestamp":1790416538625,"version":"4.1.0"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2015,10,28]],"date-time":"2015-10-28T00:00:00Z","timestamp":1445990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2015,10,28]],"date-time":"2015-10-28T00:00:00Z","timestamp":1445990400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2016,6]]},"DOI":"10.1038\/ejhg.2015.224","type":"journal-article","created":{"date-parts":[[2015,10,28]],"date-time":"2015-10-28T11:23:08Z","timestamp":1446031388000},"page":"784-793","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["Prenatal molecular testing for Beckwith\u2013Wiedemann and Silver\u2013Russell syndromes: a challenge for molecular analysis and genetic counseling"],"prefix":"10.1038","volume":"24","author":[{"given":"Thomas","family":"Eggermann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Brioude","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria P","family":"Lombardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jet","family":"Bliek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Larizza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Prawitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e8ne","family":"Netchine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Monk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel","family":"Mannens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Chrzanowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata K","family":"Walasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4659-8437","authenticated-orcid":false,"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Soellner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jair","family":"Tenorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun E","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah JG","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Weksberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Algar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,10,28]]},"reference":[{"key":"BFejhg2015224_CR1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/35047554","volume":"2","author":"W Reik","year":"2001","unstructured":"Reik W, Walter J : Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001; 2: 21\u201332.","journal-title":"Nat Rev Genet"},{"key":"BFejhg2015224_CR2","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1515\/bmc-2014-0037","volume":"6","author":"DJ Mackay","year":"2015","unstructured":"Mackay DJ, Eggermann T, Buiting K et al: Multilocus methylation defects in imprinting disorders. Biomol Concepts 2015; 6: 47\u201357.","journal-title":"Biomol Concepts"},{"key":"BFejhg2015224_CR3","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13148-015-0050-z","volume":"7","author":"T Eggermann","year":"2015","unstructured":"Eggermann T, Netchine I, Temple IK et al: Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care. Clin Epigenetics 2015; 7: 23.","journal-title":"Clin Epigenetics"},{"key":"BFejhg2015224_CR4","doi-asserted-by":"crossref","first-page":"3413","DOI":"10.1242\/dev.036061","volume":"136","author":"A Gabory","year":"2009","unstructured":"Gabory A, Ripoche M-A, Le Digarcher A et al: H19 acts as a trans regulator of the imprinted gene network controlling growth in mice. Development 2009; 136: 3413\u20133421.","journal-title":"Development"},{"key":"BFejhg2015224_CR5","doi-asserted-by":"crossref","first-page":"2598","DOI":"10.1101\/gad.552109","volume":"23","author":"KS Sandhu","year":"2009","unstructured":"Sandhu KS, Shi C, Sj\u00f6linder M et al: Nonallelic transvection of multiple imprinted loci is organized by the H19 imprinting control region during germline development service. Genes Dev 2009; 23: 2598\u20132603.","journal-title":"Genes Dev"},{"key":"BFejhg2015224_CR6","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1007\/s00109-014-1141-6","volume":"92","author":"T Eggermann","year":"2014","unstructured":"Eggermann T, Heilsberg AK, Bens S et al: Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing. J Mol Med (Berl) 2014; 92: 769\u2013777.","journal-title":"J Mol Med (Berl)"},{"key":"BFejhg2015224_CR7","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","volume":"52","author":"S Azzi","year":"2015","unstructured":"Azzi S, Salem J, Thibaud N 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\u2013453.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR8","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ejmg.2010.09.006","volume":"54","author":"S Naik","year":"2011","unstructured":"Naik S, Riordan-Eva E, Thomas NS et al: Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome. Eur J Med Genet 2011; 54: 89\u201393.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2015224_CR9","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.35.2.162","volume":"35","author":"CM Brewer","year":"1998","unstructured":"Brewer CM, Lam WW, Hayward C, Grace E, Maher ER, FitzPatrick DR : Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. J Med Genet 1998; 35: 162\u2013164.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR10","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/jhg.2012.148","volume":"58","author":"SY Cho","year":"2013","unstructured":"Cho SY, Ki CS, Sohn YB et al: The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. J Hum Genet 2013; 58: 150\u2013154.","journal-title":"J Hum Genet"},{"key":"BFejhg2015224_CR11","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/jhg.2011.59","volume":"56","author":"K Matsubara","year":"2011","unstructured":"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\u2013571.","journal-title":"J Hum Genet"},{"key":"BFejhg2015224_CR12","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/j.fertnstert.2013.01.125","volume":"99","author":"JP Vermeiden","year":"2013","unstructured":"Vermeiden JP, Bernardus RE : Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection? Fertil Steril 2013; 99: 642\u2013651.","journal-title":"Fertil Steril"},{"key":"BFejhg2015224_CR13","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/ejhg.2014.72","volume":"23","author":"J Beygo","year":"2015","unstructured":"Beygo J, Elbracht M, de Groot K et al: Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur J Hum Genet 2015; 23: 180\u2013188.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2015224_CR14","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.ejmg.2014.03.011","volume":"57","author":"M Alders","year":"2014","unstructured":"Alders M, Maas SM, Kadouch DJ et al: Methylation analysis in tongue tissue of BWS patients identifies the (EPI) genetic cause in 3 patients with normal methylation levels in blood. Eur J Med Genet 2014; 57: 293\u2013297.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2015224_CR15","volume-title":"GeneReviews(R)","author":"C Shuman","year":"1993","unstructured":"Shuman C, Beckwith JB, Smith AC, Weksberg R . Beckwith-Wiedemann Syndrome. In: Pagon RA, Adam MP, Ardinger HH et al(eds): GeneReviews(R). Seattle, WA, USA: University of Washington, Seattle University of Washington, All rights reserved 1993."},{"key":"BFejhg2015224_CR16","volume-title":"GeneReviews(R)","author":"HM Saal","year":"1993","unstructured":"Saal HM : Russell-Silver Syndrome. In: Pagon RA, Adam MP, Ardinger HH et al (eds): GeneReviews(R). Seattle, WA, USA: University of Washington, Seattle University of Washington, All rights reserved. 1993."},{"key":"BFejhg2015224_CR17","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1136\/jmg.2009.069427","volume":"47","author":"S Bruce","year":"2010","unstructured":"Bruce S, Hannula-Jouppi K, Puoskari M et al: Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet 2010; 47: 816\u2013822.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR18","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1016\/j.jpeds.2012.04.045","volume":"161","author":"S Spengler","year":"2012","unstructured":"Spengler S, Begemann M, Ortiz Bruchle N et al: Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. J Pediatr 2012; 161: 933\u2013942.","journal-title":"J Pediatr"},{"key":"BFejhg2015224_CR19","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1038\/ejhg.2014.234","volume":"23","author":"M Kagami","year":"2014","unstructured":"Kagami M, Mizuno S, Matsubara K et al: Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype. Eur J Hum Genet 2014; 23: 1062\u20131067.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2015224_CR20","first-page":"37","volume":"4","author":"JP Fryns","year":"1993","unstructured":"Fryns JP, Kleczkowska A, Devriendt K, Devliegher H, Van den Berghe H : Wiedemann-Beckwith syndrome and chromosomal duplication 4q\/deficiency 18p. Genet Couns 1993; 4: 37\u201341.","journal-title":"Genet Couns"},{"key":"BFejhg2015224_CR21","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1136\/jmedgenet-2012-100967","volume":"49","author":"M Begemann","year":"2012","unstructured":"Begemann M, Spengler S, Gogiel M et al: Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J Med Genet 2012; 49: 547\u2013553.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR22","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1136\/jmedgenet-2013-101691","volume":"50","author":"F Brioude","year":"2013","unstructured":"Brioude F, Oliver-Petit I, Blaise A et al: CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. J Med Genet 2013; 50: 823\u2013830.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR23","first-page":"273","volume":"105","author":"CA Joyce","year":"1999","unstructured":"Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK : Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 1999; 105: 273\u2013280.","journal-title":"Hum Genet"},{"key":"BFejhg2015224_CR24","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1136\/jmg.2007.057059","volume":"45","author":"H Bullman","year":"2008","unstructured":"Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL : Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. J Med Genet 2008; 45: 396\u2013399.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR25","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1056\/NEJMoa1415227","volume":"373","author":"M Begemann","year":"2015","unstructured":"Begemann M, Zirn B, Santen G et al: Paternally inherited IGF2 mutation and growth restriction. N Engl J Med 2015; 373: 349\u2013356.","journal-title":"N Engl J Med"},{"key":"BFejhg2015224_CR26","doi-asserted-by":"crossref","first-page":"5763","DOI":"10.1093\/hmg\/ddu290","volume":"23","author":"W Abi Habib","year":"2014","unstructured":"Abi Habib W, Azzi S, Brioude F et al: Extensive investigation of the IGF2\/H19 imprinting control region reveals novel OCT4\/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome. Hum Mol Genet 2014; 23: 5763\u20135773.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2015224_CR27","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1093\/hmg\/dds465","volume":"22","author":"J Beygo","year":"2013","unstructured":"Beygo J, Citro V, Sparago A et al: The molecular function and clinical phenotype of partial deletions of the IGF2\/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites. Hum Mol Genet 2013; 22: 544\u2013557.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2015224_CR28","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1086\/425343","volume":"75","author":"EL Niemitz","year":"2004","unstructured":"Niemitz EL, DeBaun MR, Fallon J et al: Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet 2004; 75: 844\u2013849.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2015224_CR29","doi-asserted-by":"crossref","first-page":"e29034","DOI":"10.1371\/journal.pone.0029034","volume":"6","author":"E Algar","year":"2011","unstructured":"Algar E, Dagar V, Sebaj M, Pachter N : An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C. PLoS One 2011; 6: e29034\u2013e29034.","journal-title":"PLoS One"},{"key":"BFejhg2015224_CR30","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng1740","volume":"38","author":"S Murdoch","year":"2006","unstructured":"Murdoch S, Djuric U, Mazhar B et al: Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 2006; 38: 300\u2013302.","journal-title":"Nat Genet"},{"key":"BFejhg2015224_CR31","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng.187","volume":"40","author":"DJG Mackay","year":"2008","unstructured":"Mackay DJG, Callaway JLa, Marks SM et al: Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008; 40: 949\u2013951.","journal-title":"Nat Genet"},{"key":"BFejhg2015224_CR32","doi-asserted-by":"crossref","first-page":"e1000423","DOI":"10.1371\/journal.pgen.1000423","volume":"5","author":"E Meyer","year":"2009","unstructured":"Meyer E, Lim D, Pasha S et al: Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet 2009; 5: e1000423\u2013e1000423.","journal-title":"PLoS Genet"},{"key":"BFejhg2015224_CR33","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1002\/ajmg.a.36045","volume":"161a","author":"JM Kalish","year":"2013","unstructured":"Kalish JM, Conlin LK, Bhatti TR et al: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A 2013; 161a: 1929\u20131939.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2015224_CR34","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1309\/RV45HRD53YQ2YFTP","volume":"126","author":"T Pham","year":"2006","unstructured":"Pham T, Steele J, Stayboldt C, Chan L, Benirschke K : Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise: a report of 11 new cases and a review of the literature. Am J Clin Pathol 2006; 126: 67\u201378.","journal-title":"Am J Clin Pathol"},{"key":"BFejhg2015224_CR35","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1002\/pd.4555","volume":"35","author":"KO Kagan","year":"2015","unstructured":"Kagan KO, Berg C, Dufke A, Geipel A, Hoopmann M, Abele H : Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn 2015; 35: 394\u2013399.","journal-title":"Prenat Diagn"},{"key":"BFejhg2015224_CR36","first-page":"1390","volume":"152A","author":"V Romanelli","year":"2010","unstructured":"Romanelli V, Belinch A, Benito-sanz S et al: CDKN1C (p57 Kip2) analysis in Beckwith\u2013Wiedemann syndrome (BWS) patients: genotype\u2013phenotype correlations. Novel Mutat Polymorphisms 2010; 152A: 1390\u20131397.","journal-title":"Novel Mutat Polymorphisms"},{"key":"BFejhg2015224_CR37","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1007\/BF01958638","volume":"154","author":"HA Wollmann","year":"1995","unstructured":"Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB : Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995; 154: 958\u2013968.","journal-title":"Eur J Pediatr"},{"key":"BFejhg2015224_CR38","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1136\/jmg.2010.079111","volume":"47","author":"EL Wakeling","year":"2010","unstructured":"Wakeling EL, Amero SA, Alders M et al: Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010; 47: 760\u2013768.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR39","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1136\/jmg.2010.086504","volume":"48","author":"K Gr\u00f8nskov","year":"2011","unstructured":"Gr\u00f8nskov K, Poole RL, Hahnemann JMD et al: Deletions and rearrangements of the H19\/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. J Med Genet 2011; 48: 308\u2013311.","journal-title":"J Med Genet"},{"key":"BFejhg2015224_CR40","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1002\/humu.22623","volume":"35","author":"S Azzi","year":"2014","unstructured":"Azzi S, Blaise A, Steunou V et al: Complex tissue-specific epigenotypes in Russell-Silver syndrome associated with 11p15 ICR1 hypomethylation. Hum Mutat 2014; 35: 1211\u20131220.","journal-title":"Hum Mutat"},{"key":"BFejhg2015224_CR41","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1093\/molehr\/gau048","volume":"20","author":"Y Xiang","year":"2014","unstructured":"Xiang Y, Zhang J, Li Q et al: DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing. Mol Hum Reprod 2014; 20: 875\u2013884.","journal-title":"Mol Hum Reprod"},{"key":"BFejhg2015224_CR42","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.molmed.2014.12.006","volume":"21","author":"AI Wong","year":"2015","unstructured":"Wong AI, Lo YM : Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications. Trends Mol Med 2015; 21: 98\u2013108.","journal-title":"Trends Mol Med"},{"key":"BFejhg2015224_CR43","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/ejhg.2014.127","volume":"23","author":"I Garin","year":"2015","unstructured":"Garin I, Mantovani G, Aguirre U et al: European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. Eur J Hum Genet 2015; 23: 438\u2013444.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2015224_CR44","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1080\/15592294.2015.1057383","volume":"10","author":"L Paganini","year":"2015","unstructured":"Paganini L, Carlessi N, Fontana L et al: Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics 2015; 10: 643\u2013649.","journal-title":"Epigenetics"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/ejhg2015224.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/ejhg2015224","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/ejhg2015224.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T09:05:42Z","timestamp":1641373542000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2015224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,28]]},"references-count":44,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["BFejhg2015224"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2015.224","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,28]]},"assertion":[{"value":"15 July 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2015","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 September 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 October 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}