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The results provide insight into pathophysiology and have immediate implications for the diagnosis and genetic counseling of families with craniosynostosis.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1709255114","type":"journal-article","created":{"date-parts":[[2017,8,14]],"date-time":"2017-08-14T20:50:24Z","timestamp":1502743824000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":87,"title":["De novo mutations in inhibitors of Wnt, BMP, and Ras\/ERK signaling pathways in non-syndromic midline craniosynostosis"],"prefix":"10.1073","volume":"114","author":[{"given":"Andrew T.","family":"Timberlake","sequence":"first","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510;"},{"name":"Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charuta G.","family":"Furey","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510;"},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jungmin","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Nelson-Williams","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Yale Center for Genome Analysis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Loring","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Galm","sequence":"additional","affiliation":[{"name":"Craniosynostosis and Positional Plagiocephaly Support, New York, NY 10010;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristopher T.","family":"Kahle","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek M.","family":"Steinbacher","sequence":"additional","affiliation":[{"name":"Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawid","family":"Larysz","sequence":"additional","affiliation":[{"name":"Department of Radiotherapy, The Maria Sk\u0142odowska Curie Memorial Cancer Centre and Institute of Oncology, 44-101 Gliwice, Poland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Persing","sequence":"additional","affiliation":[{"name":"Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510;"},{"name":"Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shrikant","family":"Mane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Tikhonova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Castaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2017,8,14]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s40142-014-0042-x","article-title":"Closing the gap: Genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses","volume":"2","author":"Heuz\u00e9 Y","year":"2014","unstructured":"Y Heuz\u00e9, G Holmes, I Peter, JT Richtsmeier, EW Jabs, Closing the gap: Genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses. 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