{"id":6241,"date":"2018-08-27T11:06:33","date_gmt":"2018-08-27T15:06:33","guid":{"rendered":"https:\/\/www.med.unc.edu\/genetics\/?p=6241"},"modified":"2018-09-10T10:50:04","modified_gmt":"2018-09-10T14:50:04","slug":"department-of-genetics-publications-for-aug-12-25-2018","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/genetics\/department-of-genetics-publications-for-aug-12-25-2018\/","title":{"rendered":"Department of Genetics Publications for Aug. 12-25, 2018"},"content":{"rendered":"<p class=\"lead\">Department of Genetics faculty, postdocs, students and collaborators published six papers during Aug. 12-25, 2018.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-2657 alignright\" src=\"https:\/\/www.med.unc.edu\/genetics\/wp-content\/uploads\/sites\/481\/2017\/10\/department-of-genetics-publications-for-sept-17-30-2017-image.jpeg\" alt=\"UNC Department of Genetics logo\" width=\"200\" height=\"136\" \/><\/p>\n<div><span style=\"font-size: medium\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30115739\"> h<i>CALCRL<\/i> mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. <\/a><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Mackie DI, Al Mutairi F, Davis RB, Kechele DO, Nielsen NR, Snyder JC, Caron MG, Kliman HJ, <b>Berg JS<\/b>, Simms J, Poyner DR, <b>Caron KM<\/b>.<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">J Exp Med. 2018 Aug 16. pii: jem.20180528. doi: 10.1084\/jem.20180528. [Epub ahead of print]<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">PMID: 30115739<\/span><\/span><\/div>\n<div><\/div>\n<div><span style=\"font-size: medium\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30113565\">The SLC26A4 c.706C&gt;G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees. <\/a><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Chiong CM, Reyes-Quintos MRT, Yarza TKL, Tobias-Grasso CAM, Acharya A, Leal SM, <b>Mohlke KL<\/b>, Mayol NL, Cutiongco-de la Paz EM, Santos-Cortez RLP.<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Otol Neurotol. 2018 Sep;39(8):e726-e730. doi: 10.1097\/MAO.0000000000001893. <\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">PMID: 30113565<\/span><\/span><\/div>\n<div><\/div>\n<div><span style=\"font-size: medium\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30133189\">Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.<\/a><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, <b>Strande NT<\/b>, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, <b>Berg JS<\/b>, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS; members of the CSER Actionability and Return of Results Working Group.<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Mol Genet Genomic Med. 2018 Aug 21. doi: 10.1002\/mgg3.453. [Epub ahead of print]<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">PMID: 30133189<\/span><\/span><\/div>\n<div><\/div>\n<div><span style=\"font-size: medium\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30136346\">Associations between dimensions of anorexia nervosa and obsessive-compulsive disorder: An examination of personality and psychological factors in patients with anorexia nervosa.<\/a><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Levinson CA, Zerwas SC, Brosof LC, Thornton LM, Strober M, Pivarunas B, <b>Crowley JJ<\/b>, <b>Yilmaz Z<\/b>, Berrettini WH, Brandt H, Crawford S, Fichter MM, Halmi KA, Johnson C, Kaplan AS, La Via M, Mitchell J, Rotondo A, Woodside DB, Kaye WH, Bulik CM.<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Eur Eat Disord Rev. 2018 Aug 22. doi: 10.1002\/erv.2635. [Epub ahead of print]<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">PMID: 30136346<\/span><\/span><\/div>\n<div><\/div>\n<div><span style=\"font-size: medium\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30142147\">coTRaCTE predicts co-occurring transcription factors within cell-type specific enhancers.<\/a><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">van B\u00f6mmel A, <b>Love MI<\/b>, Chung HR, Vingron M.<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">PLoS Comput Biol. 2018 Aug 24;14(8):e1006372. doi: 10.1371\/journal.pcbi.1006372. [Epub ahead of print]<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">PMID: 30142147<\/span><\/span><\/div>\n<div><\/div>\n<div><span style=\"font-size: medium\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30131434\">Functional redundancy between RAP1 isoforms in murine platelet production and function.<\/a><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Stefanini L, Lee RH, Paul DS, O&#8217;Shaughnessy EC, Ghalloussi D, Jones CI, Boulaftali Y, Poe KO, Piatt R, Kechele DO, <b>Caron KM<\/b>, Hahn KM, Gibbins JM, Bergmeier W..<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">Blood. 2018 Aug 21. pii: blood-2018-03-838714. doi: 10.1182\/blood-2018-03-838714. [Epub ahead of print]<\/span><\/span><\/div>\n<div><\/div>\n<div style=\"padding-left: 30px\"><span style=\"font-size: medium\"><span style=\"color: black\">PMID: 30131434<\/span><\/span><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Department of Genetics faculty, postdocs, students and collaborators published six papers during Aug. 12-25, 2018.<\/p>\n","protected":false},"author":22429,"featured_media":2657,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[],"class_list":["post-6241","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","odd"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Department of Genetics Publications for Aug. 12-25, 2018 | Department of 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