{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:26:39Z","timestamp":1781108799156,"version":"3.54.1"},"reference-count":22,"publisher":"National Academy of Sciences","issue":"10","license":[{"start":{"date-parts":[[2020,8,18]],"date-time":"2020-08-18T00:00:00Z","timestamp":1597708800000},"content-version":"vor","delay-in-days":182,"URL":"https:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"funder":[{"name":"NIH\/NHGRI","award":["R01-HG008146"],"award-info":[{"award-number":["R01-HG008146"]}]},{"name":"NIH\/NIDDK","award":["R01-DK119991"],"award-info":[{"award-number":["R01-DK119991"]}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2020,3,10]]},"DOI":"10.1073\/pnas.2000944117","type":"journal-article","created":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T18:14:41Z","timestamp":1582049681000},"page":"5097-5099","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":1,"title":["Dietary modification, penetrance, and the origins of congenital malformation"],"prefix":"10.1073","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5352-5877","authenticated-orcid":false,"given":"Greg","family":"Gibson","sequence":"first","affiliation":[{"name":"School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA 30332"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiera","family":"Berger","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA 30332"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2020,2,18]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3493"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1916588117"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.122"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.246"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.08.009"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.024"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.004"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.12688\/wellcomeopenres.11640.1"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aar6731"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/151.3.1081"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0566-4"},{"key":"e_1_3_3_12_2","volume-title":"Identically Different: Why We Can Change Our Genes","author":"Spector T.","year":"2012","unstructured":"T. Spector, Identically Different: Why We Can Change Our Genes (Weidenfeld and Nicolson, London, UK, 2012)."},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1616361"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.12.006"},{"key":"e_1_3_3_15_2","volume-title":"Inborn Errors of Metabolism","author":"Garrod A. E.","year":"2019","unstructured":"A. E. Garrod, Inborn Errors of Metabolism (Oxford Univ Press) (1909) [republished by Wentworth Press, Sydney, NSW, Australia (2019)]."},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/nu9080849"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.02.054"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz270"},{"key":"e_1_3_3_19_2","doi-asserted-by":"crossref","unstructured":"K. J. Karczewski . Variation across 141 456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. https:\/\/doi.org\/10.1101\/531210 (30 January 2019).","DOI":"10.1101\/531210"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31940-8"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.12.015"},{"key":"e_1_3_3_22_2","first-page":"839","article-title":"A snapshot of some pLI score pitfalls","volume":"40","author":"Ziegler A.","year":"2019","unstructured":"A. Ziegler, E. Colin, D. Gouden\u00e8ge, D. Bonneau, A snapshot of some pLI score pitfalls. Hum. Mutat. 40, 839\u2013841 (2019).","journal-title":"Hum. Mutat."}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.2000944117","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2000944117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T06:59:45Z","timestamp":1649833185000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.2000944117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,18]]},"references-count":22,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,3,10]]}},"alternative-id":["10.1073\/pnas.2000944117"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2000944117","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,18]]},"assertion":[{"value":"2020-02-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}