{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:46:07Z","timestamp":1790761567861,"version":"4.1.0"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"GIRCI nord ouest","award":["AAP-AE_19-36"],"award-info":[{"award-number":["AAP-AE_19-36"]}]},{"name":"Recherche Innovation Normandie","award":["RIN2018"],"award-info":[{"award-number":["RIN2018"]}]},{"name":"France G\u00e9nomique National infrastructure","award":["ANR\u201010\u2010INBS\u201009"],"award-info":[{"award-number":["ANR\u201010\u2010INBS\u201009"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1007\/s00439-023-02553-1","type":"journal-article","created":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T18:02:34Z","timestamp":1681927354000},"page":"773-783","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders"],"prefix":"10.1007","volume":"142","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9110-1856","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Lecoquierre","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Quenez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steeve","family":"Fourneaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Coutant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Vezain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Rolain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Drouot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Boland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Olaso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Dabbagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Gilles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Gayet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Saugier-Veber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Goldenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Guerrot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00ebl","family":"Nicolas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,4,19]]},"reference":[{"key":"2553_CR1","doi-asserted-by":"publisher","unstructured":"100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, et al (2021) 100,000 genomes pilot on rare-disease diagnosis in health care\u2014preliminary report. N Engl J Med 385:1868\u20131880. https:\/\/doi.org\/10.1056\/NEJMoa2035790","DOI":"10.1056\/NEJMoa2035790"},{"key":"2553_CR2","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/j.ajhg.2016.05.026","volume":"99","author":"A Angius","year":"2016","unstructured":"Angius A, Uva P, Buers I et al (2016) Bi-allelic mutations in KLHL7 cause a Crisponi\/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Am J Hum Genet 99:236\u2013245. https:\/\/doi.org\/10.1016\/j.ajhg.2016.05.026","journal-title":"Am J Hum Genet"},{"key":"2553_CR3","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/s41431-020-00755-z","volume":"29","author":"D Baux","year":"2021","unstructured":"Baux D, Van Goethem C, Ardouin O et al (2021) MobiDetails: online DNA variants interpretation. Eur J Hum Genet 29:356\u2013360. https:\/\/doi.org\/10.1038\/s41431-020-00755-z","journal-title":"Eur J Hum Genet"},{"key":"2553_CR4","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1038\/s41588-021-00865-4","volume":"53","author":"D Beyter","year":"2021","unstructured":"Beyter D, Ingimundardottir H, Oddsson A et al (2021) Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. Nat Genet 53:779\u2013786. https:\/\/doi.org\/10.1038\/s41588-021-00865-4","journal-title":"Nat Genet"},{"key":"2553_CR5","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1136\/jmedgenet-2017-104748","volume":"54","author":"A-L Bruel","year":"2017","unstructured":"Bruel A-L, Bigoni S, Kennedy J et al (2017) Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. J Med Genet 54:830\u2013835. https:\/\/doi.org\/10.1136\/jmedgenet-2017-104748","journal-title":"J Med Genet"},{"key":"2553_CR6","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1038\/nnano.2009.12","volume":"4","author":"J Clarke","year":"2009","unstructured":"Clarke J, Wu H-C, Jayasinghe L et al (2009) Continuous base identification for single-molecule nanopore DNA sequencing. Nat Nanotechnol 4:265\u2013270. https:\/\/doi.org\/10.1038\/nnano.2009.12","journal-title":"Nat Nanotechnol"},{"key":"2553_CR7","doi-asserted-by":"publisher","first-page":"1021785","DOI":"10.3389\/fcell.2022.1021785","volume":"10","author":"E Colin","year":"2022","unstructured":"Colin E, Duffourd Y, Tisserant E et al (2022) OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants. Front Cell Dev Biol 10:1021785. https:\/\/doi.org\/10.3389\/fcell.2022.1021785","journal-title":"Front Cell Dev Biol"},{"key":"2553_CR8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24438","author":"J Coursimault","year":"2022","unstructured":"Coursimault J, Cassinari K, Lecoquierre F et al (2022) Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Hum Mutat. https:\/\/doi.org\/10.1002\/humu.24438","journal-title":"Hum Mutat"},{"key":"2553_CR9","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1186\/s13073-022-01046-6","volume":"14","author":"D Danis","year":"2022","unstructured":"Danis D, Jacobsen JOB, Balachandran P et al (2022) SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. Genome Med 14:44. https:\/\/doi.org\/10.1186\/s13073-022-01046-6","journal-title":"Genome Med"},{"key":"2553_CR10","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1101\/gr.244939.118","volume":"29","author":"W De Coster","year":"2019","unstructured":"De Coster W, De Rijk P, De Roeck A et al (2019) Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome. Genome Res 29:1178\u20131187. https:\/\/doi.org\/10.1101\/gr.244939.118","journal-title":"Genome Res"},{"key":"2553_CR11","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1038\/s41576-021-00367-3","volume":"22","author":"W De Coster","year":"2021","unstructured":"De Coster W, Weissensteiner MH, Sedlazeck FJ (2021) Towards population-scale long-read sequencing. Nat Rev Genet 22:572\u2013587. https:\/\/doi.org\/10.1038\/s41576-021-00367-3","journal-title":"Nat Rev Genet"},{"key":"2553_CR12","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s40246-023-00451-1","volume":"17","author":"J-M de Sainte Agathe","year":"2023","unstructured":"de Sainte Agathe J-M, Filser M, Isidor B et al (2023) SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum Genom 17:7. https:\/\/doi.org\/10.1186\/s40246-023-00451-1","journal-title":"Hum Genom"},{"key":"2553_CR13","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/nature21062","volume":"542","author":"Deciphering Developmental Disorders Study","year":"2017","unstructured":"Deciphering Developmental Disorders Study (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature 542:433\u2013438. https:\/\/doi.org\/10.1038\/nature21062","journal-title":"Nature"},{"key":"2553_CR14","doi-asserted-by":"publisher","first-page":"1102","DOI":"10.1016\/j.ajhg.2019.10.003","volume":"105","author":"Z Dong","year":"2019","unstructured":"Dong Z, Yan J, Xu F et al (2019) Genome sequencing explores complexity of chromosomal abnormalities in recurrent miscarriage. Am J Hum Genet 105:1102\u20131111. https:\/\/doi.org\/10.1016\/j.ajhg.2019.10.003","journal-title":"Am J Hum Genet"},{"key":"2553_CR15","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1126\/science.1162986","volume":"323","author":"J Eid","year":"2009","unstructured":"Eid J, Fehr A, Gray J et al (2009) Real-time DNA sequencing from single polymerase molecules. Science 323:133\u2013138. https:\/\/doi.org\/10.1126\/science.1162986","journal-title":"Science"},{"key":"2553_CR16","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/s13073-022-01073-3","volume":"14","author":"JM Ellingford","year":"2022","unstructured":"Ellingford JM, Ahn JW, Bagnall RD et al (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med 14:73. https:\/\/doi.org\/10.1186\/s13073-022-01073-3","journal-title":"Genome Med"},{"key":"2553_CR17","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/nature13394","volume":"511","author":"C Gilissen","year":"2014","unstructured":"Gilissen C, Hehir-Kwa JY, Thung DT et al (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344\u2013347. https:\/\/doi.org\/10.1038\/nature13394","journal-title":"Nature"},{"key":"2553_CR18","doi-asserted-by":"publisher","first-page":"100023","DOI":"10.1016\/j.xhgg.2021.100023","volume":"2","author":"SM Hiatt","year":"2021","unstructured":"Hiatt SM, Lawlor JMJ, Handley LH et al (2021) Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. HGG Adv 2:100023. https:\/\/doi.org\/10.1016\/j.xhgg.2021.100023","journal-title":"HGG Adv"},{"key":"2553_CR19","doi-asserted-by":"publisher","first-page":"103551","DOI":"10.1016\/j.ejmg.2018.10.003","volume":"62","author":"L Jeffries","year":"2019","unstructured":"Jeffries L, Olivieri JE, Ji W et al (2019) Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. Eur J Med Genet 62:103551. https:\/\/doi.org\/10.1016\/j.ejmg.2018.10.003","journal-title":"Eur J Med Genet"},{"key":"2553_CR20","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1038\/s41586-020-2832-5","volume":"586","author":"J Kaplanis","year":"2020","unstructured":"Kaplanis J, Samocha KE, Wiel L et al (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586:757\u2013762. https:\/\/doi.org\/10.1038\/s41586-020-2832-5","journal-title":"Nature"},{"key":"2553_CR21","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.ajhg.2009.09.003","volume":"85","author":"S K\u00f6hler","year":"2009","unstructured":"K\u00f6hler S, Schulz MH, Krawitz P et al (2009) Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet 85:457\u2013464. https:\/\/doi.org\/10.1016\/j.ajhg.2009.09.003","journal-title":"Am J Hum Genet"},{"key":"2553_CR22","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s40246-021-00315-6","volume":"15","author":"A Kovanda","year":"2021","unstructured":"Kovanda A, Zimani AN, Peterlin B (2021) How to design a national genomic project-a systematic review of active projects. Hum Genom 15:20. https:\/\/doi.org\/10.1186\/s40246-021-00315-6","journal-title":"Hum Genom"},{"key":"2553_CR23","doi-asserted-by":"publisher","first-page":"15459","DOI":"10.1038\/s41598-021-94958-z","volume":"11","author":"A Latorre-Pellicer","year":"2021","unstructured":"Latorre-Pellicer A, Gil-Salvador M, Parenti I et al (2021) Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Sci Rep 11:15459. https:\/\/doi.org\/10.1038\/s41598-021-94958-z","journal-title":"Sci Rep"},{"key":"2553_CR24","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1038\/s41436-019-0672-1","volume":"22","author":"H Lee","year":"2020","unstructured":"Lee H, Huang AY, Wang L-K et al (2020) Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med 22:490\u2013499. https:\/\/doi.org\/10.1038\/s41436-019-0672-1","journal-title":"Genet Med"},{"key":"2553_CR25","doi-asserted-by":"publisher","first-page":"2872","DOI":"10.1016\/S0140-6736(16)32467-9","volume":"388","author":"Y L\u00e9vy","year":"2016","unstructured":"L\u00e9vy Y (2016) Genomic medicine 2025: France in the race for precision medicine. Lancet 388:2872. https:\/\/doi.org\/10.1016\/S0140-6736(16)32467-9","journal-title":"Lancet"},{"key":"2553_CR26","doi-asserted-by":"publisher","first-page":"426","DOI":"10.3389\/fgene.2019.00426","volume":"10","author":"T Mantere","year":"2019","unstructured":"Mantere T, Kersten S, Hoischen A (2019) Long-read sequencing emerging in medical genetics. Front Genet 10:426. https:\/\/doi.org\/10.3389\/fgene.2019.00426","journal-title":"Front Genet"},{"key":"2553_CR27","doi-asserted-by":"publisher","first-page":"100129","DOI":"10.1016\/j.xgen.2022.100129","volume":"2","author":"ND Olson","year":"2022","unstructured":"Olson ND, Wagner J, McDaniel J et al (2022) PrecisionFDA truth challenge V2: calling variants from short and long reads in difficult-to-map regions. Cell Genom 2:100129. https:\/\/doi.org\/10.1016\/j.xgen.2022.100129","journal-title":"Cell Genom"},{"key":"2553_CR28","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/s41431-020-00770-0","volume":"29","author":"M Pauper","year":"2021","unstructured":"Pauper M, Kucuk E, Wenger AM et al (2021) Long-read trio sequencing of individuals with unsolved intellectual disability. Eur J Hum Genet 29:637\u2013648. https:\/\/doi.org\/10.1038\/s41431-020-00770-0","journal-title":"Eur J Hum Genet"},{"key":"2553_CR29","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1038\/nbt.4235","volume":"36","author":"R Poplin","year":"2018","unstructured":"Poplin R, Chang P-C, Alexander D et al (2018) A universal SNP and small-indel variant caller using deep neural networks. Nat Biotechnol 36:983\u2013987. https:\/\/doi.org\/10.1038\/nbt.4235","journal-title":"Nat Biotechnol"},{"key":"2553_CR30","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1038\/s41467-020-20584-4","volume":"12","author":"M Quinodoz","year":"2021","unstructured":"Quinodoz M, Peter VG, Bedoni N et al (2021) AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nat Commun 12:518. https:\/\/doi.org\/10.1038\/s41467-020-20584-4","journal-title":"Nat Commun"},{"key":"2553_CR31","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) 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. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"2553_CR32","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1038\/s41431-022-01113-x","volume":"30","author":"E Souche","year":"2022","unstructured":"Souche E, Beltran S, Brosens E et al (2022) Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet 30:1017\u20131021. https:\/\/doi.org\/10.1038\/s41431-022-01113-x","journal-title":"Eur J Hum Genet"},{"key":"2553_CR33","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/ejhg.2013.46","volume":"21","author":"CG van El","year":"2013","unstructured":"van El CG, Cornel MC, Borry P et al (2013) Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet 21:580\u2013584. https:\/\/doi.org\/10.1038\/ejhg.2013.46","journal-title":"Eur J Hum Genet"},{"key":"2553_CR34","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1136\/jmedgenet-2020-107320","volume":"58","author":"T Walsh","year":"2021","unstructured":"Walsh T, Casadei S, Munson KM et al (2021) CRISPR-Cas9\/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes. J Med Genet 58:850\u2013852. https:\/\/doi.org\/10.1136\/jmedgenet-2020-107320","journal-title":"J Med Genet"},{"key":"2553_CR35","doi-asserted-by":"publisher","first-page":"1155","DOI":"10.1038\/s41587-019-0217-9","volume":"37","author":"AM Wenger","year":"2019","unstructured":"Wenger AM, Peluso P, Rowell WJ et al (2019) Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol 37:1155\u20131162. https:\/\/doi.org\/10.1038\/s41587-019-0217-9","journal-title":"Nat Biotechnol"},{"key":"2553_CR36","doi-asserted-by":"publisher","first-page":"6501","DOI":"10.1038\/s41467-021-26856-x","volume":"12","author":"Z Wu","year":"2021","unstructured":"Wu Z, Jiang Z, Li T et al (2021) Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation. Nat Commun 12:6501. https:\/\/doi.org\/10.1038\/s41467-021-26856-x","journal-title":"Nat Commun"},{"key":"2553_CR37","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1186\/s13073-022-01019-9","volume":"14","author":"VA Y\u00e9pez","year":"2022","unstructured":"Y\u00e9pez VA, Gusic M, Kopajtich R et al (2022) Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med 14:38. https:\/\/doi.org\/10.1186\/s13073-022-01019-9","journal-title":"Genome Med"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-023-02553-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-023-02553-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-023-02553-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T14:11:21Z","timestamp":1683900681000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-023-02553-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,19]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["2553"],"URL":"https:\/\/doi.org\/10.1007\/s00439-023-02553-1","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,19]]},"assertion":[{"value":"21 January 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 April 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki. The study was approved by the CPP Ouest V (20\/043\u20132) ethics committee.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent was obtained from the parents of each included individual.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors affirm that human research participants provided informed consent for publication of the images in Figs. ,  and .","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}}]}}