{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T15:43:42Z","timestamp":1779119022190,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T00:00:00Z","timestamp":1492992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["2R13NS084619\u201003"],"award-info":[{"award-number":["2R13NS084619\u201003"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001545","name":"Children's Tumor Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001545","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Importantly, this conference is a forum for presenting work in progress and bringing together all stakeholders in the scientific community. A highlight of the conference was the involvement of scientists from the pharmaceutical industry who presented growing efforts for rare disease therapeutic development in general and specifically, in pediatric patients with rare tumor syndromes. Another highlight was the focus on new investigators who presented new data about biomarker discovery, tumor pathogenesis, and diagnostic tools for NF1, NF2, and SWN. This report summarizes the themes of the meeting and a synthesis of the scientific discoveries presented at the conference in order to make the larger research community aware of progress in the neurofibromatoses.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38239","type":"journal-article","created":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T07:28:16Z","timestamp":1493018896000},"page":"1714-1721","source":"Crossref","is-referenced-by-count":6,"title":["The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1049-0993","authenticated-orcid":false,"given":"Jaishri O.","family":"Blakeley","sequence":"first","affiliation":[{"name":"Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette","family":"Bakker","sequence":"additional","affiliation":[{"name":"Children's Tumor Foundation New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Barker","sequence":"additional","affiliation":[{"name":"Arizona State University Tempe Arizona"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wade","family":"Clapp","sequence":"additional","affiliation":[{"name":"Indiana University Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalie","family":"Ferner","sequence":"additional","affiliation":[{"name":"Guy's Hospital and St. Thomas\u2019 Hospital London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Fisher","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Giovannini","sequence":"additional","affiliation":[{"name":"University of California Los Angeles Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Gutmann","sequence":"additional","affiliation":[{"name":"Washington University School of Medicine St. Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias A.","family":"Karajannis","sequence":"additional","affiliation":[{"name":"New York University Medical Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph L.","family":"Kissil","sequence":"additional","affiliation":[{"name":"Scripps Research Institute Jupiter Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[{"name":"Center for Human Genetics\u2010University Hospital Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison C.","family":"Lloyd","sequence":"additional","affiliation":[{"name":"MRC Laboratory for Molecular Cell Biology University College London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger J.","family":"Packer","sequence":"additional","affiliation":[{"name":"Children's National Medical Center Washington District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijaya","family":"Ramesh","sequence":"additional","affiliation":[{"name":"Harvard Medical School Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent M.","family":"Riccardi","sequence":"additional","affiliation":[{"name":"The Neurofibromatosis Institute La Crescenta California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Lucille Packard Children's Hospital Stanford Palo Alto California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole J.","family":"Ullrich","sequence":"additional","affiliation":[{"name":"Boston Children's Hospital Harvard Medical School Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meena","family":"Upadhyaya","sequence":"additional","affiliation":[{"name":"Institute of Cancer Genetics Cardiff University Wales United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anat","family":"Stemmer\u2010Rachamimov","sequence":"additional","affiliation":[{"name":"Massachusetts General Hospital Harvard Medical School Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2503080700"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201503081"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13561"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/nou317"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1605943"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000250332.89420.e6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.5.311"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/02688690500081206"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33139"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12490"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/nos076"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1227\/01.neu.0000333303.79931.83"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/111.6.1355"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.5-6-477"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20644"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2014.05.001"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.9.22.13838"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70122-9"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-14-0159"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.08.011"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0059941"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/843749"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.compmedimag.2004.03.002"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103050"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1230184"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38239","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38239","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:12:19Z","timestamp":1696590739000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,24]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1002\/ajmg.a.38239"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38239","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,24]]}}}