Genetics in Medicine contents: Volume 20, Issue 7

TABLE OF CONTENTS Volume 20, Issue 7 In this issue ACMG Practice Guidelines ACMG Technical Standards ACMG Practice Guidelines Invited Comment Article Special Article Podcast Also new AOP   Sign in for free ACMG member access ACMG Practice Guidelines Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, David A Stevenson & Kaleb Yohay Genetics in Medicine 2018 20 :671 - 682; April 26, 2018; 10.1038/gim.2018.28   Abstract | Full Text ACMG Technical Standards Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman et al. Genetics in Medicine 2018 20 :683 - 691; March 15, 2018; 10.1038/gim.2018.45   Abstract | Full Text ACMG Practice Guidelines Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) Lynn W Bush, Louis E Bartoshesky, Karen L David, Benjamin Wilfond, Janet L Williams et al. Genetics in Medicine 2018 20 :692 - 694; March 22, 2018; 10.1038/gim.2018.36   Abstract | Full Text Invited Comment Is prenatal genomic testing ready for prime time? Margaret P Adam Genetics in Medicine 2018 20 :695 - 696; March 22, 2018; 10.1038/gim.2018.5   Abstract | Full Text Article Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics Zirui Dong, Huilin Wang, Haixiao Chen, Hui Jiang, Jianying Yuan et al. Genetics in Medicine 2017 20 :697 - 707; November 02, 2017; 10.1038/gim.2017.170   Abstract | Full Text A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers Sandesh C S Nagamani, Umang Agarwal, Allison Tam, Mahshid Azamian, Ann McMeans et al. Genetics in Medicine 2017 20 :708 - 716; October 12, 2017; 10.1038/gim.2017.167   Abstract | Full Text Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development Dorien Baetens, Tülay Güran, Berenice B Mendonca, Nathalia L Gomes, Lode De Cauwer et al. Genetics in Medicine 2017 20 :717 - 727; October 26, 2017; 10.1038/gim.2017.163   Abstract | Full Text Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency Franziska Simm, Anne Griesbeck, Daniela Choukair, Birgit Weiß, Nagarajan Paramasivam et al. Genetics in Medicine 2017 20 :728 - 736; October 26, 2017; 10.1038/gim.2017.165   Abstract | Full Text Pathways from autism spectrum disorder diagnosis to genetic testing Krysta S Barton, Holly K Tabor, Helene Starks, Nanibaa’ A Garrison, Mercy Laurino et al. Genetics in Medicine 2017 20 :737 - 744; October 19, 2017; 10.1038/gim.2017.166   Abstract | Full Text Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif et al. Genetics in Medicine 2017 20 :745 - 753; October 26, 2017; 10.1038/gim.2017.173   Abstract | Full Text Low frequency of Fabry disease in patients with common heart disease Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R Benjamin, Jeffrey P Castelli et al. Genetics in Medicine 2017 20 :754 - 759; October 26, 2017; 10.1038/gim.2017.175   Abstract | Full Text The who, what, and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study Christine Rini, Cynthia M Khan, Elizabeth Moore, Myra I Roche, James P Evans et al. Genetics in Medicine 2017 20 :760 - 769; October 26, 2017; 10.1038/gim.2017.176   Abstract | Full Text RET somatic mutations are underrecognized in Hirschsprung disease Qian Jiang, Fang Liu, Chunyue Miao, Qi Li, Zhen Zhang et al. Genetics in Medicine 2017 20 :770 - 777; October 26, 2017; 10.1038/gim.2017.178   Abstract | Full Text Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, Periklis Makrythanasis, Sohail Aziz Paracha et al. Genetics in Medicine 2017 20 :778 - 784; August 24, 2017; 10.1038/gim.2017.113   Abstract | Full Text Special Article School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease Meredith A Chambers, David T Miller & Nicole J Ullrich Genetics in Medicine 2017 20 :785 - 788; October 26, 2017; 10.1038/gim.2017.177   Abstract | Full Text Podcast Podcast FREE Podcast Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. 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