{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T00:58:23Z","timestamp":1793321903969,"version":"4.5.0"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:00:00Z","timestamp":1740096000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703700"],"award-info":[{"award-number":["2022YFC2703700"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC1005300"],"award-info":[{"award-number":["2021YFC1005300"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81970829"],"award-info":[{"award-number":["81970829"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81974240"],"award-info":[{"award-number":["81974240"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171711"],"award-info":[{"award-number":["82171711"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Key R&D Program of Zhejiang Province of China","award":["2021C03030"],"award-info":[{"award-number":["2021C03030"]}]},{"name":"Open Research Fund of Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control","award":["HPKL2023004"],"award-info":[{"award-number":["HPKL2023004"]}]},{"name":"Open Research Fund of Hainan Province Clinical Medical Center","award":["HNSZLAB202403"],"award-info":[{"award-number":["HNSZLAB202403"]}]},{"name":"Open Research Funds of the State Key Laboratory of Ophthalmology","award":["303060202400382"],"award-info":[{"award-number":["303060202400382"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Current non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) mainly targets the detection of chromosome aberrations but not dominant single-gene disorders (dSGDs).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim<\/jats:title>\n                  <jats:p>This prospective pilot study aims to evaluate the clinical utility of a plasma cfDNA and targeted next-generation sequencing-based NIPT approach for dSGDs (NIPT-dSGD), with a particular focus on neurodevelopmental disorders (NDDs).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Prospective pilot study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The NIPT-dSGD method targeted 34 genes, including 25 correlated to NDDs and nine correlated to Noonan spectrum, skeletal, craniosynostosis and other syndromic disorders. Retrospective samples first validated NIPT-dSGD and then performed for a prospective cohort of 567 pregnant women seeking NIPT-dSGD. The testing results were compared to invasive prenatal or postnatal genetic diagnosis by whole-exome sequencing and Sanger sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of the 535 samples with qualified NIPT-dSGD analysis, 11 (2.1%) had one pathogenic or likely pathogenic variant in one of the 34 genes. Three of the 11 variants were paternally inherited, and eight were de novo. Five positive cases had normal ultrasound parameters and three of them had disease-causing variants in NDD genes. Particularly, one family had two pregnancies with de novo variants of two different genes (GRIN2B: c.1606G&amp;gt;A and ARID1B: c.6100A&amp;gt;G). NIPT-dSGD did not generate any false-positive or negative results, achieving 100% of sensitivity (95% CI, 71.7\u2013100%) and 100% of specificity (95% CI, 99.0\u2013100%).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>NIPT-dSGD provides accurate genetic testing for de novo and paternally inherited variants of dominant genes, including those that do not cause any ultrasound abnormalities, which could assist clinicians and families in better pregnancy management.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/qjmed\/hcaf017","type":"journal-article","created":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T10:29:02Z","timestamp":1740133742000},"page":"344-353","source":"Crossref","is-referenced-by-count":6,"title":["Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing"],"prefix":"10.1093","volume":"118","author":[{"given":"Hongyun","family":"Zhang","sequence":"first","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"He","sequence":"additional","affiliation":[{"name":"Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University , Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanling","family":"Teng","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingxin","family":"Shi","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Peng","sequence":"additional","affiliation":[{"name":"Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University , Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siyuan","family":"Linpeng","sequence":"additional","affiliation":[{"name":"Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University , Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingdi","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huimin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Wen","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desheng","family":"Liang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]},{"name":"Laboratory of Molecular Genetics, Hunan Jiahui Genetics Hospital , Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6010-6139","authenticated-orcid":false,"given":"Zhuo","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7070-5896","authenticated-orcid":false,"given":"Lingqian","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan,","place":["China"]},{"name":"Laboratory of Molecular Genetics, Hunan Jiahui Genetics Hospital , Changsha, Hunan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,2,21]]},"reference":[{"key":"2025081213372270100_hcaf017-B1","doi-asserted-by":"crossref","first-page":"e2301","DOI":"10.1002\/bdr2.2301","article-title":"National population-based estimates for major birth defects, 2016\u20132020","volume":"116","author":"Stallings","year":"2024","journal-title":"Birth Defects Res"},{"key":"2025081213372270100_hcaf017-B2","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1542\/peds.113.S3.957","article-title":"Environmental causes of human congenital malformations: the pediatrician's role in dealing with these complex clinical problems caused by a multiplicity of environmental and genetic factors","volume":"113","author":"Brent","year":"2004","journal-title":"Pediatrics"},{"key":"2025081213372270100_hcaf017-B3","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/s41576-019-0134-2","article-title":"Carrier screening for recessive disorders","volume":"20","author":"Antonarakis","year":"2019","journal-title":"Nat Rev Genet"},{"key":"2025081213372270100_hcaf017-B4","doi-asserted-by":"crossref","first-page":"65ra4","DOI":"10.1126\/scitranslmed.3001756","article-title":"Carrier testing for severe childhood recessive diseases by next-generation sequencing","volume":"3","author":"Bell","year":"2011","journal-title":"Sci Transl Med"},{"key":"2025081213372270100_hcaf017-B5","doi-asserted-by":"crossref","first-page":"a023085","DOI":"10.1101\/cshperspect.a023085","article-title":"Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA","volume":"5","author":"Chitty","year":"2015","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2025081213372270100_hcaf017-B6","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/S0140-6736(97)02174-0","article-title":"Presence of fetal DNA in maternal plasma and serum","volume":"350","author":"Lo","year":"1997","journal-title":"Lancet"},{"key":"2025081213372270100_hcaf017-B7","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1038\/s41436-019-0467-4","article-title":"Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes","volume":"21","author":"Liang","year":"2019","journal-title":"Genet Med"},{"key":"2025081213372270100_hcaf017-B8","doi-asserted-by":"crossref","first-page":"332.e1","DOI":"10.1016\/j.ajog.2014.11.041","article-title":"Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes","volume":"212","author":"Wapner","year":"2015","journal-title":"Am J Obstet Gynecol"},{"key":"2025081213372270100_hcaf017-B9","doi-asserted-by":"crossref","first-page":"79.e1","DOI":"10.1016\/j.ajog.2022.01.002","article-title":"Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome","volume":"227","author":"Dar","year":"2022","journal-title":"Am J Obstet Gynecol"},{"key":"2025081213372270100_hcaf017-B10","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet"},{"key":"2025081213372270100_hcaf017-B11","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing","volume":"312","author":"Yang","year":"2014","journal-title":"Jama"},{"key":"2025081213372270100_hcaf017-B12","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","article-title":"Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study","volume":"393","author":"Lord","year":"2019","journal-title":"Lancet (London, England)"},{"key":"2025081213372270100_hcaf017-B13","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1038\/s41436-021-01203-z","article-title":"Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Gregg","year":"2021","journal-title":"Genet Med"},{"key":"2025081213372270100_hcaf017-B14","doi-asserted-by":"crossref","first-page":"e1952","DOI":"10.1002\/mgg3.1952","article-title":"Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: a pilot study","volume":"10","author":"Yang","year":"2022","journal-title":"Mol Genet Genomic Med"},{"key":"2025081213372270100_hcaf017-B15","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/pd.4583","article-title":"Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach","volume":"35","author":"Chitty","year":"2015","journal-title":"Prenat Diagn"},{"key":"2025081213372270100_hcaf017-B16","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/s41591-018-0334-x","article-title":"Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA","volume":"25","author":"Zhang","year":"2019","journal-title":"Nat Med"},{"key":"2025081213372270100_hcaf017-B17","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/s41591-023-02774-x","article-title":"Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies","volume":"30","author":"Zhang","year":"2024","journal-title":"Nat Med"},{"key":"2025081213372270100_hcaf017-B18","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/uog.23756","article-title":"Clinical experience with non-invasive prenatal screening for single-gene disorders","volume":"59","author":"Mohan","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025081213372270100_hcaf017-B19","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1097\/WCO.0000000000000714","article-title":"Sex differences in neurodevelopmental disorders","volume":"32","author":"May","year":"2019","journal-title":"Curr Opin Neurol"},{"key":"2025081213372270100_hcaf017-B20","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1080\/08039488.2018.1444087","article-title":"Neurodevelopmental disorders: prevalence and comorbidity in children referred to mental health services","volume":"72","author":"Hansen","year":"2018","journal-title":"Nord J Psychiatry"},{"key":"2025081213372270100_hcaf017-B21","author":"Garrido","year":"2024","journal-title":"Pediatr Res"},{"key":"2025081213372270100_hcaf017-B22","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/pd.4033","article-title":"Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing","volume":"33","author":"Liang","year":"2013","journal-title":"Prenat Diagn"},{"key":"2025081213372270100_hcaf017-B23","first-page":"895","article-title":"FLEXBAR-Flexible barcode and adapter processing for next-generation sequencing platforms","volume":"1","author":"Dodt","year":"2012","journal-title":"Biology (Basel)"},{"key":"2025081213372270100_hcaf017-B24","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows\u2013Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"2025081213372270100_hcaf017-B25","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2025081213372270100_hcaf017-B26","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"key":"2025081213372270100_hcaf017-B27","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1002\/uog.20416","article-title":"Non-invasive cell-free fetal DNA testing for aneuploidy: multicenter study of 31\u2009515 singleton pregnancies in southeastern China","volume":"55","author":"Xu","year":"2020","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025081213372270100_hcaf017-B28","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.cca.2022.10.023","article-title":"The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability","volume":"538","author":"Zhang","year":"2023","journal-title":"Clin Chim Acta"},{"key":"2025081213372270100_hcaf017-B29","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"de Ligt","year":"2012","journal-title":"N Engl J Med"},{"key":"2025081213372270100_hcaf017-B30","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat Genet"},{"key":"2025081213372270100_hcaf017-B31","doi-asserted-by":"crossref","first-page":"3043","DOI":"10.1038\/s41467-019-11039-6","article-title":"Paternal-age-related de novo mutations and risk for five disorders","volume":"10","author":"Taylor","year":"2019","journal-title":"Nat Commun"},{"key":"2025081213372270100_hcaf017-B32","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ajhg.2011.12.017","article-title":"Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease","volume":"90","author":"Goriely","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2025081213372270100_hcaf017-B33","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/j.ejpn.2018.04.001","article-title":"Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: a single center experience and review of the literature","volume":"22","author":"Scelsa","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"2025081213372270100_hcaf017-B34","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/uog.20111","article-title":"Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally","volume":"54","author":"Thorup","year":"2019","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025081213372270100_hcaf017-B35","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/uog.7554","article-title":"Neurodevelopmental outcome of fetuses referred for ventriculomegaly","volume":"35","author":"Beeghly","year":"2010","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025081213372270100_hcaf017-B36","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1373\/clinchem.2019.304238","article-title":"Noninvasive prenatal diagnosis of single-gene diseases: the next frontier","volume":"66","author":"Scotchman","year":"2020","journal-title":"Clin Chem"},{"key":"2025081213372270100_hcaf017-B37","doi-asserted-by":"crossref","first-page":"176","DOI":"10.3390\/jcm3010176","article-title":"Preferences for prenatal tests for cystic fibrosis: a discrete choice experiment to compare the views of adult patients, carriers of cystic fibrosis and health professionals","volume":"3","author":"Hill","year":"2014","journal-title":"J Clin Med"},{"key":"2025081213372270100_hcaf017-B38","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1086\/302322","article-title":"Germ-line mosaicism in tuberous sclerosis: how common?","volume":"64","author":"Rose","year":"1999","journal-title":"Am J Hum Genet"},{"key":"2025081213372270100_hcaf017-B39","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ajmg.a.37405","article-title":"Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings","volume":"170a","author":"Ben-Salem","year":"2016","journal-title":"Am J Med Genet A"},{"key":"2025081213372270100_hcaf017-B40","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1002\/ajmg.a.35381","article-title":"Germline mosaicism in Cornelia de Lange syndrome","volume":"158a","author":"Slavin","year":"2012","journal-title":"Am J Med Genet A"},{"key":"2025081213372270100_hcaf017-B41","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ajog.2023.11.1240","article-title":"Placental, maternal, fetal, and technical origins of false-positive cell-free DNA screening results","volume":"230","author":"Raymond","year":"2024","journal-title":"Am J Obstet Gynecol"},{"key":"2025081213372270100_hcaf017-B42","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ajhg.2018.07.019","article-title":"De novo mutations of CCNK cause a syndromic neurodevelopmental disorder with distinctive facial dysmorphism","volume":"103","author":"Fan","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2025081213372270100_hcaf017-B43","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/jhg.2015.156","article-title":"A novel de novo POGZ mutation in a patient with intellectual disability","volume":"61","author":"Tan","year":"2016","journal-title":"J Hum Genet"},{"key":"2025081213372270100_hcaf017-B44","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/humu.24347","article-title":"Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay\/intellectual disability: a prospective study","volume":"43","author":"Sun","year":"2022","journal-title":"Hum Mutat"},{"key":"2025081213372270100_hcaf017-B45","doi-asserted-by":"crossref","first-page":"44446","DOI":"10.1038\/srep44446","article-title":"A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies","volume":"7","author":"Ma","year":"2017","journal-title":"Sci Rep"},{"key":"2025081213372270100_hcaf017-B46","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/jhg.2016.164","article-title":"Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases","volume":"62","author":"Luo","year":"2017","journal-title":"J Hum Genet"}],"container-title":["QJM: An International Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/qjmed\/advance-article-pdf\/doi\/10.1093\/qjmed\/hcaf017\/62047122\/hcaf017.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/118\/5\/344\/62047122\/hcaf017.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/118\/5\/344\/62047122\/hcaf017.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T17:37:34Z","timestamp":1755020254000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/qjmed\/article\/118\/5\/344\/8029672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,21]]},"references-count":46,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,2,21]]},"published-print":{"date-parts":[[2025,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/qjmed\/hcaf017","relation":{},"ISSN":["1460-2725","1460-2393"],"issn-type":[{"value":"1460-2725","type":"print"},{"value":"1460-2393","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,5]]},"published":{"date-parts":[[2025,2,21]]}}}