{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:26:01Z","timestamp":1771028761292,"version":"3.50.1"},"reference-count":45,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,7,27]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the <jats:italic>ZNF148<\/jats:italic> gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The core clinical phenotype is characterised by developmental delay particularly in the domain of speech development, postnatal growth retardation, microcephaly and facial dysmorphism. Corpus callosum abnormalities appear less frequently than suggested by previous observations. The identified mutations concerned nonsense or frameshift variants that were mainly located in the last exon of the <jats:italic>ZNF148<\/jats:italic> gene. Heterozygous deletion including the entire <jats:italic>ZNF148<\/jats:italic> gene was found in only one case. Most mutations occurred de novo, but were inherited from an affected parent in two families.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The GDACCF syndrome is clinically diverse, and a genotype-first approach, that is, exome sequencing is recommended for establishing a genetic diagnosis rather than a phenotype-first approach. However, the syndrome may be suspected based on some recurrent, recognisable features. Corpus callosum anomalies were not as constant as previously suggested, we therefore recommend to replace the term \u2018GDACCF syndrome\u2019 with \u2018<jats:italic>ZNF148<\/jats:italic>-related neurodevelopmental disorder\u2019.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-109030","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T13:20:23Z","timestamp":1692019223000},"page":"132-141","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148<\/i> mutations"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2659-7488","authenticated-orcid":false,"given":"Katalin","family":"Szakszon","sequence":"first","affiliation":[{"name":"Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary"},{"name":"Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles Marques","family":"Lourenco","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bert Louis","family":"Callewaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, University Hospital Ghent, Gent, Belgium"},{"name":"Department of Biomolecular Medicine, Ghent University, Ghent, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Genevi\u00e8ve","sequence":"additional","affiliation":[{"name":"Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, France"},{"name":"Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavien","family":"Rouxel","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique Clinique, D\u00e9partment de G\u00e9n\u00e9tique M\u00e9dicale, Maladies Rares et M\u00e9decine Personnalis\u00e9e, CHU Montpellier, Montpellier University, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement SOOR, Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denis","family":"Morin","sequence":"additional","affiliation":[{"name":"Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8986-8222","authenticated-orcid":false,"given":"Anne-Sophie","family":"Denomm\u00e9-Pichon","sequence":"additional","affiliation":[{"name":"Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France"},{"name":"Inserm UMR1231 team GAD, University of Burgundy, Dijon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France"},{"name":"Inserm UMR1231 team GAD, University of Burgundy, Dijon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wesley G","family":"Patterson","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymond","family":"Louie","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Inc, Greenwood, South Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Pinto e Vairo","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2946-5795","authenticated-orcid":false,"given":"Eric","family":"Klee","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charu","family":"Kaiwar","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralitza H","family":"Gavrilova","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine E","family":"Agre","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastien","family":"Jacquemont","sequence":"additional","affiliation":[{"name":"Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada"},{"name":"Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jizi","family":"Khadij\u00e9","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Giltay","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koen","family":"van Gassen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Mer\u0151","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Gerkes","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bregje W","family":"Van Bon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuula","family":"Rinne","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han G","family":"Brunner","sequence":"additional","affiliation":[{"name":"Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oana","family":"Caluseriu","sequence":"additional","affiliation":[{"name":"Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Grasshoff","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University Clinic, T\u00fcbingen University, T\u00fcbingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Kehrer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University Clinic, T\u00fcbingen University, T\u00fcbingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6033-4836","authenticated-orcid":false,"given":"Tobias B","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University Clinic, T\u00fcbingen University, T\u00fcbingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melik Malek","family":"Khelifa","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medical College Hannover, Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anke Katharina","family":"Bergmann","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Hannover Medical School, Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Maria","family":"Cueto-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain"},{"name":"Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariadna Campos","family":"Martorell","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain"},{"name":"Endocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shwetha","family":"Ramachandrappa","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsey B","family":"Sawyer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Fasel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Braun","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atallah","family":"Isis","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3543-7531","authenticated-orcid":false,"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanda","family":"McNiven","sequence":"additional","affiliation":[{"name":"University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada"},{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed Anas","family":"Ahmed","sequence":"additional","affiliation":[{"name":"University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Brennenstuhl","sequence":"additional","affiliation":[{"name":"Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva MC","family":"Schwaibolf","sequence":"additional","affiliation":[{"name":"Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gladys","family":"Battisti","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benoit","family":"Parmentier","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8769-3150","authenticated-orcid":false,"given":"Servi J C","family":"Stevens","sequence":"additional","affiliation":[{"name":"Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,8,14]]},"reference":[{"key":"2025100522034151000_61.2.132.1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.949803"},{"key":"2025100522034151000_61.2.132.2","doi-asserted-by":"crossref","first-page":"17071","DOI":"10.1038\/cddiscovery.2017.71","article-title":"Zinc-finger proteins in health and disease","volume":"3","author":"Cassandri","year":"2017","journal-title":"Cell Death Discov"},{"key":"2025100522034151000_61.2.132.3","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2020.00032","article-title":"C 2 H 2-type zinc finger proteins in brain development, neurodevelopmental, and other neuropsychiatric disorders: systematic literature-based analysis","volume":"11","author":"Al-Naama","year":"2020","journal-title":"Front Neurol"},{"key":"2025100522034151000_61.2.132.4","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-070815-013858"},{"key":"2025100522034151000_61.2.132.5","doi-asserted-by":"publisher","DOI":"10.1016\/J.NEURON.2015.12.008"},{"key":"2025100522034151000_61.2.132.6","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2011.144"},{"key":"2025100522034151000_61.2.132.7","doi-asserted-by":"crossref","DOI":"10.1186\/s12929-016-0269-9","article-title":"Zinc finger proteins in cancer progression","volume":"23","author":"Jen","year":"2016","journal-title":"J Biomed Sci"},{"key":"2025100522034151000_61.2.132.8","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1097\/YPG.0000000000000231","article-title":"Zinc finger proteins in psychiatric disorders and response to psychotropic medications","volume":"29","author":"Squassina","year":"2019","journal-title":"Psychiatr Genet"},{"key":"2025100522034151000_61.2.132.9","doi-asserted-by":"publisher","DOI":"10.32607\/20758251-2017-9-2-47-58"},{"key":"2025100522034151000_61.2.132.10","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.1111\/cas.14348","article-title":"Upregulation of ZNF148 in SDHB-deficient gastrointestinal stromal tumor potentiates forkhead box M1-mediated transcription and promotes tumor cell invasion","volume":"111","author":"Gao","year":"2020","journal-title":"Cancer Sci"},{"key":"2025100522034151000_61.2.132.11","first-page":"36","article-title":"Transcription factor ZBP-89 in cancer growth and apoptosis","volume":"1806","author":"Zhang","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"2025100522034151000_61.2.132.12","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2001.4753"},{"key":"2025100522034151000_61.2.132.13","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1186\/s13073-016-0386-9","article-title":"Truncating de novo mutations in the Kr\u00fcppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms","volume":"8","author":"Stevens","year":"2016","journal-title":"Genome Med"},{"key":"2025100522034151000_61.2.132.14","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/cge.14272","article-title":"Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability","volume":"103","author":"Miao","year":"2023","journal-title":"Clin Genet"},{"key":"2025100522034151000_61.2.132.15","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"2025100522034151000_61.2.132.16","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu137"},{"key":"2025100522034151000_61.2.132.17","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"2025100522034151000_61.2.132.18","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108064"},{"key":"2025100522034151000_61.2.132.19","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab051"},{"key":"2025100522034151000_61.2.132.20","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"2025100522034151000_61.2.132.21","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22851"},{"key":"2025100522034151000_61.2.132.22","unstructured":"Joubert K , Gyenis G . The Hungarian Longitudinal Growth Study: From Birth To The Age of 18 years. Working Papers on Population, Family and Welfare, no.23. Hungarian Demographic Research Institute: Budapest, 2016. Available: http:\/\/hdl.handle.net\/10419\/226466"},{"key":"2025100522034151000_61.2.132.23","unstructured":"de Onis M , Onyango A , Borghi E , et al . WHO child growth standards: length\/height-for-age, weight-for-age, weight-for-length, weight-Forheight and body mass index-for-age: methods and development. Geneva WHO; 2006."},{"key":"2025100522034151000_61.2.132.24","unstructured":"Institute RK . Reference Percentiles for Anthropometric measures and blood pressure based on the German health interview and examination survey for children and adolescents 2003\u20132006 (Kiggs). n.d. Available: https:\/\/www.rki.de\/EN\/Content\/Health_Monitoring\/Health_Reporting\/GBEDownloadsB\/KiGGS_referenzperzentile.pdf?__blob=publicationFile"},{"key":"2025100522034151000_61.2.132.25","unstructured":"Centers for disease control and prevention, Statistics NC for H. CDC Growth Charts. n.d. Available: https:\/\/www.cdc.gov\/growthcharts\/clinical_charts.htm"},{"key":"2025100522034151000_61.2.132.26","doi-asserted-by":"publisher","DOI":"10.1007\/s001120170107"},{"key":"2025100522034151000_61.2.132.27","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-924458"},{"key":"2025100522034151000_61.2.132.28","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61490-2"},{"key":"2025100522034151000_61.2.132.29","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)60932-6"},{"key":"2025100522034151000_61.2.132.30","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1055\/s-2007-1025337","article-title":"Physical growth of normal German children from birth to 18 years: longitudinal study of height, weight, height velocity","volume":"204","author":"Reinken","year":"1992","journal-title":"Klin Padiatr"},{"key":"2025100522034151000_61.2.132.31","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0258(19980228)17:4<407::AID-SIM742>3.0.CO;2-L"},{"key":"2025100522034151000_61.2.132.32","doi-asserted-by":"publisher","DOI":"10.1136\/adc.73.1.17"},{"key":"2025100522034151000_61.2.132.33","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-3846"},{"key":"2025100522034151000_61.2.132.34","doi-asserted-by":"publisher","DOI":"10.1136\/adc.76.1.47"},{"key":"2025100522034151000_61.2.132.35","doi-asserted-by":"crossref","DOI":"10.1542\/peds.108.2.e35","article-title":"A new and improved population-based Canadian reference for birth weight for gestational age","volume":"108","author":"Kramer","year":"2001","journal-title":"Pediatrics"},{"key":"2025100522034151000_61.2.132.36","unstructured":"World Health Organization . Dietitians of Canada - WHO growth charts [World Health Organization]. 2014. Available: https:\/\/www.dietitians.ca\/Secondary-Pages\/Public\/Who-Growth-Charts.aspx"},{"key":"2025100522034151000_61.2.132.37","unstructured":"Holleman A , Heck A . Growth of Dutch children. Amstel Inst; 2001. 2.Available: https:\/\/staff.fnwi.uva.nl\/a.j.p.heck\/Research\/growth\/taskA.pdf [Accessed 19 Jun 2022]."},{"key":"2025100522034151000_61.2.132.38","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.ajog.2018.12.023","article-title":"From population reference to national standard: new and improved birthweight charts","volume":"220","author":"Hoftiezer","year":"2019","journal-title":"Am J Obstet Gynecol"},{"key":"2025100522034151000_61.2.132.39","doi-asserted-by":"crossref","first-page":"11","DOI":"10.3109\/03014460.2011.632646","article-title":"Growth references for Brazilian children and adolescents: healthy growth in Cariri study","volume":"39","author":"Silva","year":"2012","journal-title":"Ann Hum Biol"},{"key":"2025100522034151000_61.2.132.40","doi-asserted-by":"publisher","DOI":"10.7863\/ultra.33.7.1185"},{"key":"2025100522034151000_61.2.132.41","doi-asserted-by":"publisher","DOI":"10.1590\/s0001-37652011005000008"},{"key":"2025100522034151000_61.2.132.42","doi-asserted-by":"crossref","first-page":"e413","DOI":"10.1016\/S2589-7500(19)30149-9","article-title":"A big-data approach to producing descriptive anthropometric references: a feasibility and validation study of paediatric growth charts","volume":"1","author":"Heude","year":"2019","journal-title":"Lancet Digital Health"},{"key":"2025100522034151000_61.2.132.43","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.clp.2022.02.001","article-title":"Neonatal and preterm infant growth assessment","volume":"49","author":"Fenton","year":"2022","journal-title":"Clin Perinatol"},{"key":"2025100522034151000_61.2.132.44","doi-asserted-by":"publisher","DOI":"10.1080\/13668250.2011.572548"},{"key":"2025100522034151000_61.2.132.45","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.17-6-558"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg-2022-109030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:03:51Z","timestamp":1759727031000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg-2022-109030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,14]]},"references-count":45,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,1,19]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/jmg-2022-109030"],"URL":"https:\/\/doi.org\/10.1136\/jmg-2022-109030","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,14]]}}}