{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T08:57:59Z","timestamp":1793177879440,"version":"4.5.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["63\/8\/2010-BMS"],"award-info":[{"award-number":["63\/8\/2010-BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001412","name":"Council of Scientific and Industrial Research, India","doi-asserted-by":"publisher","award":["09\/590(0157)\/2016-EMR-I"],"award-info":[{"award-number":["09\/590(0157)\/2016-EMR-I"]}],"id":[{"id":"10.13039\/501100001412","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/PR26428\/MED\/12\/783\/2017"],"award-info":[{"award-number":["BT\/PR26428\/MED\/12\/783\/2017"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/PR9635\/MED\/97\/198\/2013"],"award-info":[{"award-number":["BT\/PR9635\/MED\/97\/198\/2013"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.ejmg.2022.104520","type":"journal-article","created":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T22:53:32Z","timestamp":1652309612000},"page":"104520","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing"],"prefix":"10.1016","volume":"65","author":[{"given":"Suzena","family":"Masih","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amita","family":"Moirangthem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arya","family":"Shambhavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archana","family":"Rai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kausik","family":"Mandal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Saxena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayank","family":"Nilay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neha","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somya","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haseena","family":"Sait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6624-082X","authenticated-orcid":false,"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2022.104520_bib1","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.celrep.2014.12.015","article-title":"Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families","volume":"10","author":"Alazami","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.ejmg.2022.104520_bib2","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/s41431-020-00749-x","article-title":"Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1","volume":"29","author":"Appelhof","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib3","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s10545-017-0036-4","article-title":"Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency","volume":"40","author":"Balasubramaniam","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2022.104520_bib4","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1542\/peds.2008-2784","article-title":"Acquired microcephaly: causes, patterns, motor and IQ effects, and associated growth changes","volume":"124","author":"Baxter","year":"2009","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2022.104520_bib5","first-page":"766","article-title":"Corrected head circumference centiles as a possible predictor of developmental performance in high-risk neonatal intensive care unit survivors","volume":"47","author":"Bolduc","year":"2005","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ejmg.2022.104520_bib6","doi-asserted-by":"crossref","first-page":"2043","DOI":"10.1038\/s41436-019-0464-7","article-title":"Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly","volume":"21","author":"Boonsawat","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2022.104520_bib7","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1136\/jmedgenet-2017-104877","article-title":"Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome","volume":"55","author":"Calmels","year":"2018","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib8","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1002\/humu.23339","article-title":"Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype","volume":"38","author":"Chen","year":"2017","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2022.104520_bib9","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1159\/000053935","article-title":"Prenatally diagnosed microcephaly: a review of etiologies","volume":"16","author":"Dahlgren","year":"2001","journal-title":"Fetal Diagn. Ther."},{"key":"10.1016\/j.ejmg.2022.104520_bib10","doi-asserted-by":"crossref","first-page":"103882","DOI":"10.1016\/j.ejmg.2020.103882","article-title":"Expansion of the phenotype of biallelic variants in TRIT1","volume":"63","author":"Forde","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib11","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/humu.22970","article-title":"Mutation update and review of severe methylenetetrahydrofolate reductase deficiency","volume":"37","author":"Froese","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2022.104520_bib12","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.ajhg.2018.07.003","article-title":"De novo variants in the F-box Protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder","volume":"103","author":"Gregor","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib13","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004772","article-title":"De novo mutations in moderate or severe intellectual disability","volume":"10","author":"Hamdan","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib14","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1136\/jmedgenet-2020-106896","article-title":"Prenatal clinical manifestations in individuals with COL4A1\/2 variants","volume":"58","author":"Itai","year":"2021","journal-title":"J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2022.104520_bib15","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1002\/humu.24172","article-title":"A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians","volume":"42","author":"Kausthubham","year":"2021","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2022.104520_bib16","first-page":"369","article-title":"POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene","volume":"53","author":"Kulh\u00e1nek","year":"2019","journal-title":"Neurol. Neurochir. Pol."},{"key":"10.1016\/j.ejmg.2022.104520_bib17","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1002\/ajmg.a.62110","article-title":"Twins with PEX7 related intellectual disability and cataract: highlighting phenotypes of peroxisome biogenesis disorder 9B","volume":"185","author":"Masih","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2022.104520_bib18","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000513524","article-title":"Homozygous missense variation in PNPLA8 causes prenatal-onset severe neurodegeneration","volume":"12","author":"Masih","year":"2021","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ejmg.2022.104520_bib19","article-title":"Microcephaly in infantile Sandhoff's disease","volume":"24","author":"Maulik","year":"2017","journal-title":"BMJ Case Rep."},{"key":"10.1016\/j.ejmg.2022.104520_bib20","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1212\/01.wnl.0000346518.68110.60","article-title":"Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study","volume":"72","author":"Mercuri","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2022.104520_bib21","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s13760-020-01527-8","article-title":"Identification of a novel missense c.386G>A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy","volume":"121","author":"Mohammadi","year":"2021","journal-title":"Acta Neurol. Belg."},{"key":"10.1016\/j.ejmg.2022.104520_bib22","article-title":"Variable neurological phenotypes of homocystinuria caused by bi-allelic MTHFR variants","author":"Moirangthem","year":"2021","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2022.104520_bib23","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1038\/s41436-019-0473-6","article-title":"De novo and biallelic DEAF1 variants cause a phenotypic spectrum","volume":"21","author":"Nabais S\u00e1","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2022.104520_bib24","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1007\/s11011-016-9842-x","article-title":"Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis","volume":"31","author":"Nair","year":"2016","journal-title":"Metab. Brain Dis."},{"key":"10.1016\/j.ejmg.2022.104520_bib25","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature10423","article-title":"Deep sequencing reveals 50 novel genes for recessive cognitive disorders","volume":"478","author":"Najmabadi","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2022.104520_bib26","doi-asserted-by":"crossref","first-page":"362","DOI":"10.4103\/0028-3886.314579","article-title":"Clinical and mutation spectra of Cockayne syndrome in India","volume":"69","author":"Narayanan","year":"2021","journal-title":"Neurol. India"},{"key":"10.1016\/j.ejmg.2022.104520_bib27","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002945","article-title":"Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome","volume":"8","author":"Ogi","year":"2012","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib28","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1038\/mp.2016.109","article-title":"Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability","volume":"22","author":"Riazuddin","year":"2017","journal-title":"Mol. Psychiatr."},{"key":"10.1016\/j.ejmg.2022.104520_bib29","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":"10.1016\/j.ejmg.2022.104520_bib42","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":"10.1016\/j.ejmg.2022.104520_bib30","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.tics.2005.03.005","article-title":"Evolution of the brain and intelligence","volume":"9","author":"Roth","year":"2005","journal-title":"Trends Cognit. Sci."},{"key":"10.1016\/j.ejmg.2022.104520_bib31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s12920-016-0167-8","article-title":"Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly","volume":"9","author":"Rump","year":"2016","journal-title":"BMC Med. Genom."},{"key":"10.1016\/j.ejmg.2022.104520_bib32","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/s41436-018-0140-3","article-title":"Genomic and phenotypic delineation of congenital microcephaly","volume":"21","author":"Shaheen","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2022.104520_bib33","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1097\/MCD.0000000000000252","article-title":"Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene","volume":"28","author":"Sharma","year":"2019","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2022.104520_bib34","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1002\/ajmg.a.38687","article-title":"A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2\u03b3","volume":"176","author":"Shukla","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2022.104520_bib35","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1038\/s41467-018-07953-w","article-title":"Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish","volume":"10","author":"Siekierska","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ejmg.2022.104520_bib36","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1093\/hmg\/ddg043","article-title":"Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease","volume":"12","author":"Taniguchi","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib37","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1111\/cge.12732","article-title":"Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test","volume":"89","author":"Thevenon","year":"2016","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib38","doi-asserted-by":"crossref","first-page":"6087","DOI":"10.1038\/s41467-020-19919-y","article-title":"MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia","volume":"11","author":"Ucuncu","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ejmg.2022.104520_bib39","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1038\/s41431-018-0233-0","article-title":"Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis","volume":"26","author":"van Dijk","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104520_bib40","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1111\/dmcn.12425","article-title":"Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature","volume":"56","author":"von der Hagen","year":"2014","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ejmg.2022.104520_bib41","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1055\/s-0037-1602820","article-title":"Diagnostic approach to primary microcephaly","volume":"48","author":"von der Hagen","year":"2017","journal-title":"Neuropediatrics"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122200101X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122200101X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:52:54Z","timestamp":1761709974000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972122200101X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":42,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["S176972122200101X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104520","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104520","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104520"}}