{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T17:34:30Z","timestamp":1793295270842,"version":"4.5.0"},"reference-count":30,"publisher":"American Medical Association (AMA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"DOI":"10.1001\/jamanetworkopen.2021.41911","type":"journal-article","created":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T16:03:00Z","timestamp":1641312180000},"page":"e2141911","source":"Crossref","is-referenced-by-count":39,"title":["Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16\u202f579 Newborns by Using a Novel Genomic Workflow"],"prefix":"10.1001","volume":"5","author":[{"given":"David E.","family":"Godler","sequence":"first","affiliation":[{"name":"Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Parkville, Victoria, Australia"},{"name":"Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia"},{"name":"E.D.G. Innovations and Consulting, St Kilda, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Ling","sequence":"additional","affiliation":[{"name":"Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Parkville, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinusha","family":"Gamage","sequence":"additional","affiliation":[{"name":"Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Parkville, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma K.","family":"Baker","sequence":"additional","affiliation":[{"name":"Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Parkville, Victoria, Australia"},{"name":"Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh","family":"Bui","sequence":"additional","affiliation":[{"name":"Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Carlton, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Field","sequence":"additional","affiliation":[{"name":"Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Rogers","sequence":"additional","affiliation":[{"name":"Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Murgia","sequence":"additional","affiliation":[{"name":"Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy"},{"name":"Istituto di Ricerca Pediatrica (IRP), Citt\u00e0 della Speranza, Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy"},{"name":"Istituto di Ricerca Pediatrica (IRP), Citt\u00e0 della Speranza, Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Polli","sequence":"additional","affiliation":[{"name":"Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy"},{"name":"Istituto di Ricerca Pediatrica (IRP), Citt\u00e0 della Speranza, Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy D.","family":"Skinner","sequence":"additional","affiliation":[{"name":"Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica M.","family":"Alliende","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile"},{"name":"Centre for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF), INTA University of Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Santa Maria","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile"},{"name":"Centre for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF), INTA University of Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Pitt","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronda","family":"Greaves","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia"},{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Francis","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Oertel","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[{"name":"Translational Bioinformatics, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cas","family":"Simons","sequence":"additional","affiliation":[{"name":"Translational Bioinformatics, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia"},{"name":"Neurodisability and Rehabilitation, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","published-online":{"date-parts":[[2022,1,4]]},"reference":[{"issue":"12","key":"zoi211166r1","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1007\/s40618-015-0312-9","article-title":"Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.","volume":"38","author":"Angulo","year":"2015","journal-title":"J Endocrinol Invest"},{"issue":"3","key":"zoi211166r2","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1016\/j.pcl.2015.03.004","article-title":"Prader-Willi, Angelman, and 15q11-q13 duplication syndromes.","volume":"62","author":"Kalsner","year":"2015","journal-title":"Pediatr Clin North Am"},{"issue":"1","key":"zoi211166r3","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/s11689-018-9242-0","article-title":"Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.","volume":"10","author":"Baker","year":"2018","journal-title":"J Neurodev Disord"},{"issue":"2","key":"zoi211166r4","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.nbd.2008.08.011","article-title":"The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.","volume":"38","author":"Hogart","year":"2010","journal-title":"Neurobiol Dis"},{"issue":"3","key":"zoi211166r5","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1002\/(ISSN)1096-8628","article-title":"Prader-Willi syndrome: current understanding of cause and diagnosis.","volume":"35","author":"Butler","year":"1990","journal-title":"Am J Med Genet"},{"issue":"7","key":"zoi211166r7","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2021.14336","article-title":"Priciples of genomic newborn screening programs: a systematic review.","volume":"4","author":"Downie","year":"2021","journal-title":"JAMA Netw Open"},{"issue":"4","key":"zoi211166r8","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1002\/ajmg.c.31536","article-title":"Angelman syndrome: current and emerging therapies in 2016.","volume":"172","author":"Tan","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"zoi211166r9","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s13229-019-0280-6","article-title":"Mechanisms underlying the EEG biomarker in Dup15q syndrome.","volume":"10","author":"Frohlich","year":"2019","journal-title":"Mol Autism"},{"issue":"2","key":"zoi211166r10","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1097\/YCO.0000000000000391","article-title":"A review of clinical trials of oxytocin in Prader-Willi syndrome.","volume":"31","author":"Rice","year":"2018","journal-title":"Curr Opin Psychiatry"},{"issue":"11","key":"zoi211166r11","doi-asserted-by":"publisher","first-page":"898","DOI":"10.3390\/genes10110898","article-title":"Early diagnosis in Prader-Willi syndrome reduces obesity and associated co-morbidities.","volume":"10","author":"Kimonis","year":"2019","journal-title":"Genes (Basel)"},{"issue":"7","key":"zoi211166r12","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1111\/dmcn.v63.7","article-title":"UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.","volume":"63","author":"Elgersma","year":"2021","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"zoi211166r13","doi-asserted-by":"publisher","first-page":"53","DOI":"10.3390\/ijns7030053","article-title":"Newborn screening for 5q spinal muscular atrophy: comparisons between real-time PCR methodologies and cost estimations for future implementation programs.","volume":"7","author":"Romanelli Tavares","year":"2021","journal-title":"Int J Neonatal Screen"},{"issue":"1","key":"zoi211166r14","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.a.60681","article-title":"Newborn screening for Prader-Willi syndrome is feasible: early diagnosis for better outcomes.","volume":"179","author":"Mahmoud","year":"2019","journal-title":"Am J Med Genet A"},{"issue":"1","key":"zoi211166r15","doi-asserted-by":"publisher","first-page":"13026","DOI":"10.1038\/s41598-020-69750-0","article-title":"A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.","volume":"10","author":"Ferreira","year":"2020","journal-title":"Sci Rep"},{"issue":"1","key":"zoi211166r16","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1038\/s41398-020-01034-7","article-title":"Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.","volume":"10","author":"Baker","year":"2020","journal-title":"Transl Psychiatry"},{"key":"zoi211166r17","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1093\/biomet\/26.4.404","article-title":"The use of confidence or fiducial limits illustrated in the case of the binomial..","volume":"26","author":"Clopper","year":"1934","journal-title":"Biometrika"},{"key":"zoi211166r18","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/1471-2156-9-2","article-title":"Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.","volume":"9","author":"Wang","year":"2008","journal-title":"BMC Genet"},{"issue":"6","key":"zoi211166r19","doi-asserted-by":"publisher","first-page":"R114","DOI":"10.1186\/gb-2007-8-6-r114","article-title":"Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.","volume":"8","author":"Makoff","year":"2007","journal-title":"Genome Biol"},{"issue":"3","key":"zoi211166r20","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/(ISSN)1096-8628","article-title":"Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.","volume":"60","author":"Petersen","year":"1995","journal-title":"Am J Med Genet"},{"issue":"7","key":"zoi211166r21","first-page":"488","article-title":"Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction.","volume":"101","author":"Teng","year":"2002","journal-title":"J Formos Med Assoc"},{"issue":"9","key":"zoi211166r22","doi-asserted-by":"crossref","DOI":"10.3390\/genes10090713","article-title":"The global Prader-Willi syndrome registry: development, launch, and early demographics.","volume":"10","author":"Bohonowych","year":"2019","journal-title":"Genes (Basel)"},{"issue":"1","key":"zoi211166r23","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1186\/s13023-017-0686-1","article-title":"A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.","volume":"12","author":"Napier","year":"2017","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"zoi211166r24","doi-asserted-by":"publisher","first-page":"505","DOI":"10.24953\/turkjped.2019.04.006","article-title":"Two years of newborn screening for cystic fibrosis in Turkey: \u00c7ukurova experience.","volume":"61","author":"Sasih\u00fcseyinoglu","year":"2019","journal-title":"Turk J Pediatr"},{"issue":"7","key":"zoi211166r25","doi-asserted-by":"publisher","first-page":"714","DOI":"10.1001\/archpedi.154.7.714","article-title":"The magnitude and challenge of false-positive newborn screening test results.","volume":"154","author":"Kwon","year":"2000","journal-title":"Arch Pediatr Adolesc Med"},{"issue":"1","key":"zoi211166r26","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2019.20356","article-title":"Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina.","volume":"3","author":"Lee","year":"2020","journal-title":"JAMA Netw Open"},{"issue":"7","key":"zoi211166r27","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1373\/clinchem.2013.217331","article-title":"Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.","volume":"60","author":"Inaba","year":"2014","journal-title":"Clin Chem"},{"issue":"20","key":"zoi211166r28","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21207735","article-title":"DNA methylation at birth predicts intellectual functioning and autism features in children with fragile X syndrome.","volume":"21","author":"Kraan","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"6","key":"zoi211166r29","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1042\/EBC20190056","article-title":"DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders.","volume":"63","author":"Godler","year":"2019","journal-title":"Essays Biochem"},{"issue":"4","key":"zoi211166r30","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1093\/nar\/gky1263","article-title":"WisecondorX: improved copy number detection for routine shallow whole-genome sequencing.","volume":"47","author":"Raman","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"zoi211166r6","volume-title":"GeneReviews","author":"Driscoll","year":"1993"}],"container-title":["JAMA Network Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/articlepdf\/2787581\/godler_2022_oi_211166_1643823318.97756.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T09:10:05Z","timestamp":1700039405000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/fullarticle\/2787581"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,4]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1,4]]}},"URL":"https:\/\/doi.org\/10.1001\/jamanetworkopen.2021.41911","relation":{},"ISSN":["2574-3805"],"issn-type":[{"value":"2574-3805","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,4]]}}}