{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T04:04:20Z","timestamp":1789790660782,"version":"4.0.1"},"reference-count":53,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T00:00:00Z","timestamp":1786060800000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Carlos III Health Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023233","name":"National Institute for Health and Care Research Applied Research Collaboration Oxford and Thames Valley","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100023233","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.gim.2026.102682","type":"journal-article","created":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T23:47:23Z","timestamp":1786492043000},"page":"102682","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Transmission ratio distortion of NF1 variant alleles in familial neurofibromatosis type 1"],"prefix":"10.1016","author":[{"given":"Yang","family":"Pei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Browne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar","family":"Creus-Bachiller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conxi","family":"L\u00e1zaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Castellanos Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Upadhyaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent M.","family":"Riccardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret R.","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9229-7216","authenticated-orcid":false,"given":"Anne","family":"Goriely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gim.2026.102682_bib1","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2017.4","article-title":"Neurofibromatosis type 1","volume":"3","author":"Gutmann","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"4","key":"10.1016\/j.gim.2026.102682_bib2","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1007\/s13402-025-01054-9","article-title":"From benign neurofibromas to malignant peripheral nerve sheath tumors (MPNST): a gaming among multiple factors","volume":"48","author":"Yu","year":"2025","journal-title":"Cell Oncol (Dordr)"},{"issue":"17","key":"10.1016\/j.gim.2026.102682_bib3","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1200\/JCO.2015.65.3576","article-title":"Distinctive cancer associations in patients with neurofibromatosis type 1","volume":"34","author":"Uusitalo","year":"2016","journal-title":"J Clin Oncol"},{"issue":"5","key":"10.1016\/j.gim.2026.102682_bib4","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.39.5.311","article-title":"Malignant peripheral nerve sheath tumours in neurofibromatosis 1","volume":"39","author":"Evans","year":"2002","journal-title":"J Med Genet"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib5","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/ng0995-90","article-title":"Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene","volume":"11","author":"Colman","year":"1995","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.gim.2026.102682_bib6","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/90148","article-title":"Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas","volume":"28","author":"Serra","year":"2001","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.gim.2026.102682_bib7","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.26.11.704","article-title":"A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity","volume":"26","author":"Huson","year":"1989","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.gim.2026.102682_bib8","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1007\/s00381-021-05436-w","article-title":"Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?","volume":"38","author":"Harder","year":"2022","journal-title":"Childs Nerv Syst"},{"issue":"6","key":"10.1016\/j.gim.2026.102682_bib9","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.fertnstert.2022.10.017","article-title":"The impact of paternal age on new mutations and disease in the next generation","volume":"118","author":"Wood","year":"2022","journal-title":"Fertil Steril"},{"issue":"2","key":"10.1016\/j.gim.2026.102682_bib10","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ajhg.2011.12.017","article-title":"Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease","volume":"90","author":"Goriely","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.gim.2026.102682_bib11","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1101\/gr.239186.118","article-title":"Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes","volume":"28","author":"Maher","year":"2018","journal-title":"Genome Res"},{"issue":"8089","key":"10.1016\/j.gim.2026.102682_bib12","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/s41586-025-09448-3","article-title":"Sperm sequencing reveals extensive positive selection in the male germline","volume":"647","author":"Neville","year":"2025","journal-title":"Nature"},{"key":"10.1016\/j.gim.2026.102682_bib13","first-page":"190","article-title":"A clinical, pathological and genetic study of multiple neurofibromatosis","volume":"8","author":"Crowe","year":"1956","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.gim.2026.102682_bib14","first-page":"107","article-title":"Neurofibromatosis in Gothenburg, Sweden. Iv. Genetic analyses","volume":"2","author":"Samuelsson","year":"1989","journal-title":"Neurofibromatosis"},{"issue":"3","key":"10.1016\/j.gim.2026.102682_bib15","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.fertnstert.2014.11.021","article-title":"Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1","volume":"103","author":"Merker","year":"2015","journal-title":"Fertil Steril"},{"issue":"8","key":"10.1016\/j.gim.2026.102682_bib16","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1038\/s41431-023-01404-x","article-title":"Preimplantation genetic testing for neurofibromatosis type 1: more than 20 years of clinical experience","volume":"31","author":"Vernimmen","year":"2023","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"10.1016\/j.gim.2026.102682_bib17","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","article-title":"Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation","volume":"23","author":"Legius","year":"2021","journal-title":"Genet Med"},{"issue":"3","key":"10.1016\/j.gim.2026.102682_bib18","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s00439-012-1257-0","article-title":"Transmission ratio distortion: review of concept and implications for genetic association studies","volume":"132","author":"Huang","year":"2013","journal-title":"Hum Genet"},{"issue":"13","key":"10.1016\/j.gim.2026.102682_bib19","doi-asserted-by":"crossref","DOI":"10.1002\/cncr.35943","article-title":"Transmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families","volume":"131","author":"Halpern","year":"2025","journal-title":"Cancer"},{"issue":"5","key":"10.1016\/j.gim.2026.102682_bib20","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1002\/jbmr.3948","article-title":"Maternal transmission ratio distortion of GNAS loss-of-function mutations","volume":"35","author":"Snanoudj","year":"2020","journal-title":"J Bone Miner Res"},{"issue":"5","key":"10.1016\/j.gim.2026.102682_bib21","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1007\/BF00219175","article-title":"Paternal selection favoring mutant alleles of the Retinoblastoma susceptibility gene","volume":"89","author":"Munier","year":"1992","journal-title":"Hum Genet"},{"issue":"7","key":"10.1016\/j.gim.2026.102682_bib22","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10505","article-title":"A distinct variant of pseudohypoparathyroidism (PHP) first characterized some 41 years ago is caused by the 3-kbSTX16 deletion","volume":"5","author":"Kiuchi","year":"2021","journal-title":"JBMR Plus"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib23","doi-asserted-by":"crossref","first-page":"2952","DOI":"10.1038\/s41467-018-05338-7","article-title":"Spindle tubulin and MTOC asymmetries may explain meiotic drive in oocytes","volume":"9","author":"Wu","year":"2018","journal-title":"Nat Commun"},{"issue":"9","key":"10.1016\/j.gim.2026.102682_bib24","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.210074","article-title":"Unravelling the mystery of female meiotic drive: where we are","volume":"11","author":"Clark","year":"2021","journal-title":"Open Biol"},{"issue":"11","key":"10.1016\/j.gim.2026.102682_bib25","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.3390\/cells9112348","article-title":"Nuclear isoforms of neurofibromin are required for proper spindle organization and chromosome segregation","volume":"9","author":"Peta","year":"2020","journal-title":"Cells"},{"issue":"6","key":"10.1016\/j.gim.2026.102682_bib26","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/S0168-9525(00)02020-5","article-title":"Segregation distortion of mouse t haplotypes the molecular basis emerges","volume":"16","author":"Schimenti","year":"2000","journal-title":"Trends Genet"},{"issue":"2-3","key":"10.1016\/j.gim.2026.102682_bib27","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s10577-022-09697-2","article-title":"Meiotic drive in house mice: mechanisms, consequences, and insights for human biology","volume":"30","author":"Arora","year":"2022","journal-title":"Chromosome Res"},{"issue":"7","key":"10.1016\/j.gim.2026.102682_bib28","doi-asserted-by":"crossref","first-page":"3205","DOI":"10.1007\/s00018-020-03735-0","article-title":"Mechanisms of meiotic drive in symmetric and asymmetric meiosis","volume":"78","author":"Kruger","year":"2021","journal-title":"Cell Mol Life Sci"},{"issue":"7","key":"10.1016\/j.gim.2026.102682_bib29","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0169-5347(00)01875-9","article-title":"Persistence of selfish genetic elements: population structure and conflict","volume":"15","author":"Hatcher","year":"2000","journal-title":"Trends Ecol Evol"},{"issue":"2","key":"10.1016\/j.gim.2026.102682_bib30","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1534\/genetics.104.032755","article-title":"Transmission ratio distortion in offspring of mouse heterozygous carriers of a (7.18) robertsonian translocation","volume":"169","author":"Underkoffler","year":"2005","journal-title":"Genetics"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib31","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s004390000437","article-title":"Transmission ratio distortion in offspring of heterozygous female carriers of robertsonian translocations","volume":"108","author":"Pardo-Manuel de Villena","year":"2001","journal-title":"Hum Genet"},{"issue":"2","key":"10.1016\/j.gim.2026.102682_bib32","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1010660","article-title":"Gametic selection favours polyandry and selfing","volume":"20","author":"Scott","year":"2024","journal-title":"PLoS Genet"},{"key":"10.1016\/j.gim.2026.102682_bib33","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1146\/annurev-genet-112618-043905","article-title":"Standard deviations: the biological bases of transmission ratio distortion","volume":"53","author":"Fishman","year":"2019","journal-title":"Annu Rev Genet"},{"issue":"2","key":"10.1016\/j.gim.2026.102682_bib34","doi-asserted-by":"crossref","first-page":"320","DOI":"10.3324\/haematol.2009.010355","article-title":"Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1","volume":"95","author":"Steinemann","year":"2010","journal-title":"Haematologica"},{"issue":"3","key":"10.1016\/j.gim.2026.102682_bib35","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/s41588-025-02097-2","article-title":"Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1","volume":"57","author":"Oliver","year":"2025","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib36","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1038\/s41467-023-36606-w","article-title":"Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation","volume":"14","author":"Bernkopf","year":"2023","journal-title":"Nat Commun"},{"issue":"D1","key":"10.1016\/j.gim.2026.102682_bib37","doi-asserted-by":"crossref","first-page":"D246","DOI":"10.1093\/nar\/gkx1158","article-title":"Expression atlas: gene and protein expression across multiple studies and organisms","volume":"46","author":"Papatheodorou","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"31","key":"10.1016\/j.gim.2026.102682_bib38","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abh2169","article-title":"A single-cell type transcriptomics map of human tissues","volume":"7","author":"Karlsson","year":"2021","journal-title":"Sci Adv"},{"issue":"5","key":"10.1016\/j.gim.2026.102682_bib39","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1089\/bio.2015.29031.hmm","article-title":"The genotype-tissue expression (GTEX) project","volume":"13","author":"Carithers","year":"2015","journal-title":"Biopreserv Biobank"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib40","doi-asserted-by":"crossref","first-page":"6755","DOI":"10.1038\/s41467-022-34294-6","article-title":"The first mitotic division of human embryos is highly error prone","volume":"13","author":"Currie","year":"2022","journal-title":"Nat Commun"},{"issue":"5","key":"10.1016\/j.gim.2026.102682_bib41","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1093\/humupd\/dmr014","article-title":"Chromosomal mosaicism in human preimplantation embryos: a systematic review","volume":"17","author":"Van Echten-Arends","year":"2011","journal-title":"Hum Reprod Update"},{"issue":"5","key":"10.1016\/j.gim.2026.102682_bib42","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/pd.5931","article-title":"Chromosomal mosaicism: origins and clinical implications in preimplantation and prenatal diagnosis","volume":"41","author":"Levy","year":"2021","journal-title":"Prenat Diagn"},{"issue":"6-7","key":"10.1016\/j.gim.2026.102682_bib43","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00439-018-1904-1","article-title":"Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences","volume":"137","author":"Summerer","year":"2018","journal-title":"Hum Genet"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib44","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/hmg\/9.1.35","article-title":"NF1 microdeletion breakpoints are clustered at flanking repetitive sequences","volume":"9","author":"Dorschner","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1016\/j.gim.2026.102682_bib45","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1086\/522089","article-title":"Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination","volume":"81","author":"Steinmann","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1016\/j.gim.2026.102682_bib46","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1186\/1479-7364-5-6-623","article-title":"Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis","volume":"5","author":"Laycock-van Spyk","year":"2011","journal-title":"Hum Genomics"},{"key":"10.1016\/j.gim.2026.102682_bib47","article-title":"Tumor and constitutional sequencing for neurofibromatosis type 1","volume":"6","author":"Tong","year":"2022","journal-title":"JCO Precis Oncol"},{"issue":"5","key":"10.1016\/j.gim.2026.102682_bib48","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1002\/jgc4.1303","article-title":"Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis-practice resource of the National society of genetic counselors","volume":"29","author":"Radtke","year":"2020","journal-title":"J Genet Couns"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib49","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1007\/s00439-002-0840-1","article-title":"Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1","volume":"112","author":"Upadhyaya","year":"2003","journal-title":"Hum Genet"},{"issue":"10","key":"10.1016\/j.gim.2026.102682_bib50","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1136\/jmedgenet-2021-108301","article-title":"Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?","volume":"59","author":"Garcia","year":"2022","journal-title":"J Med Genet"},{"issue":"11","key":"10.1016\/j.gim.2026.102682_bib51","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1002\/humu.22392","article-title":"NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience","volume":"34","author":"Sabbagh","year":"2013","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib52","doi-asserted-by":"crossref","first-page":"41","DOI":"10.21873\/cgp.20485","article-title":"Two different NF1 pathogenic variants in a family with neurofibromatosis type 1","volume":"22","author":"Hartung","year":"2025","journal-title":"Cancer Genomics Proteomics"},{"issue":"1","key":"10.1016\/j.gim.2026.102682_bib53","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/(SICI)1096-8628(19990305)83:1<6::AID-AJMG3>3.0.CO;2-E","article-title":"Two independent mutations in a family with neurofibromatosis type 1 (NF1)","volume":"83","author":"Klose","year":"1999","journal-title":"Am J Med Genet"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360026010002?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360026010002?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T03:36:44Z","timestamp":1789789004000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360026010002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":53,"alternative-id":["S1098360026010002"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2026.102682","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Transmission ratio distortion of NF1 variant alleles in familial neurofibromatosis type 1","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2026.102682","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"102682"}}