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To illustrate this trend from the perspective of a clinical molecular laboratory, we briefly summarize our general experience conducting exome testing for patients with holoprosencephaly (HPE). Though these cases are not representative of HPE more generally (i.e., cases undergoing exome sequencing represent a skewed sample), results include a 22% positive rate from exome testing. Of interest, 29% of reported results involved genes not considered to be classic HPE genes, indicating more evidence that HPE may fall within the severe spectrum of many other genetic conditions.<\/jats:p>","DOI":"10.1002\/ajmg.c.31613","type":"journal-article","created":{"date-parts":[[2018,5,11]],"date-time":"2018-05-11T12:20:12Z","timestamp":1526041212000},"page":"194-197","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Holoprosencephaly: A clinical genomics perspective"],"prefix":"10.1002","volume":"178","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8826-1023","authenticated-orcid":false,"given":"Benjamin D.","family":"Solomon","sequence":"first","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyle","family":"Retterer","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4476-1309","authenticated-orcid":false,"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0019-9"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.110"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.06.010"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2015.00045"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.200"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30253"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34261"},{"issue":"10","key":"e_1_2_6_9_1","first-page":"961","article-title":"Clinical application of whole\u2010exome sequencing across clinical indications","volume":"18","author":"Retterer K.","year":"2016","journal-title":"Genetics in Medicine"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.160"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0039026"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30236"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.01.005"},{"issue":"321","key":"e_1_2_6_14_1","first-page":"321fs1","article-title":"Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders","volume":"8","author":"Soden S. 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