{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:24:09Z","timestamp":1790627049552,"version":"4.1.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T00:00:00Z","timestamp":1660003200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T00:00:00Z","timestamp":1660003200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1007\/s00439-022-02476-3","type":"journal-article","created":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T03:51:55Z","timestamp":1660017115000},"page":"1-9","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1"],"prefix":"10.1007","volume":"142","author":[{"given":"Laurence","family":"Pacot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Pelletier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albain","family":"Chansavang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Briand-Suleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Burin des Roziers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Coustier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodora","family":"Maillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Vaucouleur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Orhant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Barbance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alban","family":"Lermine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadim","family":"Hamzaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djihad","family":"Hadjadj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Laurendeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00efla","family":"El Khattabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vidaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Parfait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1881-8762","authenticated-orcid":false,"given":"Eric","family":"Pasmant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Vidaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"2476_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":"2476_CR2","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1186\/s13023-020-1310-3","volume":"15","author":"C Bergqvist","year":"2020","unstructured":"Bergqvist C, Servy A, Valeyrie-Allanore L et al (2020) Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis 15:37. https:\/\/doi.org\/10.1186\/s13023-020-1310-3","journal-title":"Orphanet J Rare Dis"},{"key":"2476_CR3","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1038\/nrg3424","volume":"14","author":"LG Biesecker","year":"2013","unstructured":"Biesecker LG, Spinner NB (2013) A genomic view of mosaicism and human disease. Nat Rev Genet 14:307\u2013320. https:\/\/doi.org\/10.1038\/nrg3424","journal-title":"Nat Rev Genet"},{"key":"2476_CR4","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/S1470-2045(09)70033-6","volume":"10","author":"H Brems","year":"2009","unstructured":"Brems H, Beert E, de Ravel T, Legius E (2009) Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 10:508\u2013515. https:\/\/doi.org\/10.1016\/S1470-2045(09)70033-6","journal-title":"Lancet Oncol"},{"key":"2476_CR5","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1038\/ng2113","volume":"39","author":"H Brems","year":"2007","unstructured":"Brems H, Chmara M, Sahbatou M et al (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39:1120\u20131126. https:\/\/doi.org\/10.1038\/ng2113","journal-title":"Nat Genet"},{"key":"2476_CR6","doi-asserted-by":"publisher","first-page":"1538","DOI":"10.1002\/humu.22152","volume":"33","author":"H Brems","year":"2012","unstructured":"Brems H, Pasmant E, Van Minkelen R et al (2012) Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat 33:1538\u20131546. https:\/\/doi.org\/10.1002\/humu.22152","journal-title":"Hum Mutat"},{"key":"2476_CR7","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1111\/cge.13649","volume":"97","author":"E Castellanos","year":"2020","unstructured":"Castellanos E, Rosas I, Negro A et al (2020) Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple caf\u00e9-au-lait macules. Clin Genet 97:264\u2013275. https:\/\/doi.org\/10.1111\/cge.13649","journal-title":"Clin Genet"},{"key":"2476_CR8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688","volume":"7","author":"Y Choi","year":"2012","unstructured":"Choi Y, Sims GE, Murphy S et al (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 7:e46688. https:\/\/doi.org\/10.1371\/journal.pone.0046688","journal-title":"PLoS ONE"},{"key":"2476_CR9","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1038\/s41586-020-2287-8","volume":"581","author":"RL Collins","year":"2020","unstructured":"Collins RL, Brand H, Karczewski KJ et al (2020) A structural variation reference for medical and population genetics. Nature 581:444\u2013451. https:\/\/doi.org\/10.1038\/s41586-020-2287-8","journal-title":"Nature"},{"key":"2476_CR10","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215","volume":"37","author":"F-O Desmet","year":"2009","unstructured":"Desmet F-O, Hamroun D, Lalande M et al (2009) Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67. https:\/\/doi.org\/10.1093\/nar\/gkp215","journal-title":"Nucleic Acids Res"},{"key":"2476_CR11","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1002\/uog.20112","volume":"54","author":"LA El Khattabi","year":"2019","unstructured":"El Khattabi LA, Brun S, Gueguen P et al (2019) Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting. Ultrasound Obstet Gynecol 54:246\u2013254. https:\/\/doi.org\/10.1002\/uog.20112","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2476_CR12","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.ebiom.2016.04.005","volume":"7","author":"DG Evans","year":"2016","unstructured":"Evans DG, Bowers N, Burkitt-Wright E et al (2016) Comprehensive RNA analysis of the NF1 gene in classically affected NF1 affected individuals meeting NIH criteria has high sensitivity and mutation negative testing is reassuring in isolated cases with pigmentary features only. EBioMedicine 7:212\u2013220. https:\/\/doi.org\/10.1016\/j.ebiom.2016.04.005","journal-title":"EBioMedicine"},{"key":"2476_CR13","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1515\/cclm-2017-0689","volume":"56","author":"A Gruber","year":"2018","unstructured":"Gruber A, Pacault M, El Khattabi LA et al (2018) Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR. Clin Chem Lab Med 56:728\u2013738. https:\/\/doi.org\/10.1515\/cclm-2017-0689","journal-title":"Clin Chem Lab Med"},{"key":"2476_CR14","doi-asserted-by":"publisher","first-page":"17004","DOI":"10.1038\/nrdp.2017.4","volume":"3","author":"DH Gutmann","year":"2017","unstructured":"Gutmann DH, Ferner RE, Listernick RH et al (2017) Neurofibromatosis type 1. Nat Rev Dis Primers 3:17004. https:\/\/doi.org\/10.1038\/nrdp.2017.4","journal-title":"Nat Rev Dis Primers"},{"key":"2476_CR15","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/ajmg.a.30358","volume":"131","author":"MP Horan","year":"2004","unstructured":"Horan MP, Osborn M, Cooper DN, Upadhyaya M (2004) Functional analysis of polymorphic variation within the promoter and 5\u2019 untranslated region of the neurofibromatosis type 1 (NF1) gene. Am J Med Genet A 131:227\u2013231. https:\/\/doi.org\/10.1002\/ajmg.a.30358","journal-title":"Am J Med Genet A"},{"key":"2476_CR16","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab894","author":"T Huby","year":"2021","unstructured":"Huby T, Le Guillou E, Burin des Roziers C et al (2021) Non-invasive prenatal diagnosis of a paternally inherited MEN1 pathogenic splicing variant. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/clinem\/dgab894","journal-title":"J Clin Endocrinol Metab"},{"key":"2476_CR17","doi-asserted-by":"publisher","first-page":"13534","DOI":"10.1093\/nar\/gku1206","volume":"42","author":"X Jian","year":"2014","unstructured":"Jian X, Boerwinkle E, Liu X (2014) In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res 42:13534\u201313544. https:\/\/doi.org\/10.1093\/nar\/gku1206","journal-title":"Nucleic Acids Res"},{"key":"2476_CR18","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s00439-021-02410-z","volume":"141","author":"H Kehrer-Sawatzki","year":"2022","unstructured":"Kehrer-Sawatzki H, Cooper DN (2022) Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Hum Genet 141:177\u2013191. https:\/\/doi.org\/10.1007\/s00439-021-02410-z","journal-title":"Hum Genet"},{"key":"2476_CR19","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1007\/s00439-017-1766-y","volume":"136","author":"H Kehrer-Sawatzki","year":"2017","unstructured":"Kehrer-Sawatzki H, Mautner V-F, Cooper DN (2017) Emerging genotype\u2013phenotype relationships in patients with large NF1 deletions. Hum Genet 136:349\u2013376. https:\/\/doi.org\/10.1007\/s00439-017-1766-y","journal-title":"Hum Genet"},{"key":"2476_CR20","doi-asserted-by":"publisher","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","volume":"23","author":"E Legius","year":"2021","unstructured":"Legius E, Messiaen L, Wolkenstein P et al (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med 23:1506\u20131513. https:\/\/doi.org\/10.1038\/s41436-021-01170-5","journal-title":"Genet Med"},{"key":"2476_CR21","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1093\/neuonc\/noy009","volume":"20","author":"C Louvrier","year":"2018","unstructured":"Louvrier C, Pasmant E, Briand-Suleau A et al (2018) Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. Neuro Oncol 20:917\u2013929. https:\/\/doi.org\/10.1093\/neuonc\/noy009","journal-title":"Neuro Oncol"},{"key":"2476_CR22","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1086\/519562","volume":"81","author":"O Maertens","year":"2007","unstructured":"Maertens O, De Schepper S, Vandesompele J et al (2007) Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 81:243\u2013251. https:\/\/doi.org\/10.1086\/519562","journal-title":"Am J Hum Genet"},{"key":"2476_CR23","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.1001\/jama.2009.1663","volume":"302","author":"L Messiaen","year":"2009","unstructured":"Messiaen L, Yao S, Brems H et al (2009) Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 302:2111\u20132118. https:\/\/doi.org\/10.1001\/jama.2009.1663","journal-title":"JAMA"},{"key":"2476_CR24","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1002\/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N","volume":"15","author":"LM Messiaen","year":"2000","unstructured":"Messiaen LM, Callens T, Mortier G et al (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541\u2013555. https:\/\/doi.org\/10.1002\/1098-1004(200006)15:6%3c541::AID-HUMU6%3e3.0.CO;2-N","journal-title":"Hum Mutat"},{"key":"2476_CR25","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s13073-021-00841-x","volume":"13","author":"AE Minoche","year":"2021","unstructured":"Minoche AE, Lundie B, Peters GB et al (2021) ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data. Genome Med 13:32. https:\/\/doi.org\/10.1186\/s13073-021-00841-x","journal-title":"Genome Med"},{"key":"2476_CR26","doi-asserted-by":"publisher","first-page":"2963","DOI":"10.3390\/cancers13122963","volume":"13","author":"L Pacot","year":"2021","unstructured":"Pacot L, Vidaud D, Sabbagh A et al (2021) Severe phenotype in patients with large deletions of NF1. Cancers (Basel) 13:2963. https:\/\/doi.org\/10.3390\/cancers13122963","journal-title":"Cancers (Basel)"},{"key":"2476_CR27","doi-asserted-by":"publisher","first-page":"1459","DOI":"10.1038\/ejhg.2008.134","volume":"16","author":"E Pasmant","year":"2008","unstructured":"Pasmant E, de Saint-Trivier A, Laurendeau I et al (2008) Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient. Eur J Hum Genet 16:1459\u20131466. https:\/\/doi.org\/10.1038\/ejhg.2008.134","journal-title":"Eur J Hum Genet"},{"key":"2476_CR28","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1038\/ejhg.2014.145","volume":"23","author":"E Pasmant","year":"2015","unstructured":"Pasmant E, Parfait B, Luscan A et al (2015) Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? Eur J Hum Genet 23:596\u2013601. https:\/\/doi.org\/10.1038\/ejhg.2014.145","journal-title":"Eur J Hum Genet"},{"key":"2476_CR29","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1136\/jmg.2008.065243","volume":"46","author":"E Pasmant","year":"2009","unstructured":"Pasmant E, Sabbagh A, Hanna N et al (2009a) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet 46:425\u2013430. https:\/\/doi.org\/10.1136\/jmg.2008.065243","journal-title":"J Med Genet"},{"key":"2476_CR30","doi-asserted-by":"publisher","first-page":"524","DOI":"10.2353\/jmoldx.2009.090064","volume":"11","author":"E Pasmant","year":"2009","unstructured":"Pasmant E, Sabbagh A, Masliah-Planchon J et al (2009b) Detection and characterization of NF1 microdeletions by custom high resolution array CGH. J Mol Diagn 11:524\u2013529. https:\/\/doi.org\/10.2353\/jmoldx.2009.090064","journal-title":"J Mol Diagn"},{"key":"2476_CR31","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1136\/jmedgenet-2012-100978","volume":"49","author":"E Pasmant","year":"2012","unstructured":"Pasmant E, Vidaud M, Vidaud D, Wolkenstein P (2012) Neurofibromatosis type 1: from genotype to phenotype. J Med Genet 49:483\u2013489. https:\/\/doi.org\/10.1136\/jmedgenet-2012-100978","journal-title":"J Med Genet"},{"key":"2476_CR32","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1002\/humu.24261","volume":"42","author":"C Perez-Becerril","year":"2021","unstructured":"Perez-Becerril C, Evans DG, Smith MJ (2021) Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. Hum Mutat 42:1187\u20131207. https:\/\/doi.org\/10.1002\/humu.24261","journal-title":"Hum Mutat"},{"key":"2476_CR33","doi-asserted-by":"publisher","DOI":"10.22541\/au.164544915.57104749\/v1","author":"R Leman","year":"2022","unstructured":"Leman R, Parfait B, Vidaud D et al (2022) SPiP, a comprehensive splicing prediction pipeline for massive detection of exonic and intronic variant effect on mRNA splicing. Hum Mutat. https:\/\/doi.org\/10.22541\/au.164544915.57104749\/v1","journal-title":"Hum Mutat. https:\/\/"},{"key":"2476_CR34","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1038\/nrc3911","volume":"15","author":"N Ratner","year":"2015","unstructured":"Ratner N, Miller SJ (2015) A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer 15:290\u2013301. https:\/\/doi.org\/10.1038\/nrc3911","journal-title":"Nat Rev Cancer"},{"key":"2476_CR35","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s13073-021-00835-9","volume":"13","author":"P Rentzsch","year":"2021","unstructured":"Rentzsch P, Schubach M, Shendure J, Kircher M (2021) CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Med 13:31. https:\/\/doi.org\/10.1186\/s13073-021-00835-9","journal-title":"Genome Med"},{"key":"2476_CR36","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":"2476_CR37","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/nbt.1754","volume":"29","author":"JT Robinson","year":"2011","unstructured":"Robinson JT, Thorvaldsd\u00f3ttir H, Winckler W et al (2011) Integrative genomics viewer. Nat Biotechnol 29:24\u201326. https:\/\/doi.org\/10.1038\/nbt.1754","journal-title":"Nat Biotechnol"},{"key":"2476_CR38","doi-asserted-by":"publisher","first-page":"1510","DOI":"10.1002\/humu.22392","volume":"34","author":"A Sabbagh","year":"2013","unstructured":"Sabbagh A, Pasmant E, Imbard A et al (2013) NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat 34:1510\u20131518. https:\/\/doi.org\/10.1002\/humu.22392","journal-title":"Hum Mutat"},{"key":"2476_CR39","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1002\/uog.20353","volume":"54","author":"LJ Salomon","year":"2019","unstructured":"Salomon LJ, Sotiriadis A, Wulff CB et al (2019) Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol 54:442\u2013451. https:\/\/doi.org\/10.1002\/uog.20353","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2476_CR40","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.ajhg.2017.12.007","volume":"102","author":"B Trost","year":"2018","unstructured":"Trost B, Walker S, Wang Z et al (2018) A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data. Am J Hum Genet 102:142\u2013155. https:\/\/doi.org\/10.1016\/j.ajhg.2017.12.007","journal-title":"Am J Hum Genet"},{"key":"2476_CR41","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1016\/S0140-6736(00)02716-1","volume":"356","author":"T Yasunari","year":"2000","unstructured":"Yasunari T, Shiraki K, Hattori H, Miki T (2000) Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet 356:988\u2013992. https:\/\/doi.org\/10.1016\/S0140-6736(00)02716-1","journal-title":"Lancet"},{"key":"2476_CR42","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1089\/1066527041410418","volume":"11","author":"G Yeo","year":"2004","unstructured":"Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377\u2013394. https:\/\/doi.org\/10.1089\/1066527041410418","journal-title":"J Comput Biol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02476-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-022-02476-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02476-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T08:05:49Z","timestamp":1673597149000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-022-02476-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,9]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["2476"],"URL":"https:\/\/doi.org\/10.1007\/s00439-022-02476-3","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,9]]},"assertion":[{"value":"11 June 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 July 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2022","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 declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study is in line with the current French legislation on genetic studies.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Patient and his parents gave their written informed consent for the use of their clinical and genetic data in the context of research.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}