Genetics in Medicine contents: Volume 20, Issue 5

TABLE OF CONTENTS Volume 20, Issue 5 (May 2018) In this issue Research Highlights In Memoriam Original Research Articles Brief Report Podcast Also new AOP   Sign in for free ACMG member access Research Highlights In This Issue   Genetics in Medicine 2018 20 :475 - 475; April 24, 2018; 10.1038/gim.2018.56   Abstract | Full Text News Briefs   Genetics in Medicine 2018 20 :476 - 476; April 24, 2018; 10.1038/gim.2018.57   Abstract | Full Text In Memoriam Arno G. Motulsky, MD (1923–2018): Holocaust survivor who cofounded the field of medical genetics Gail P Jarvik Genetics in Medicine 2018 20 :477 - 479; April 24, 2018; 10.1038/gim.2018.55   Abstract | Full Text Original Research Articles Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, Marjan M Weiss, Heleen Schuring-Blom et al. Genetics in Medicine 2017 20 :480 - 485; September 28, 2017; 10.1038/gim.2017.132   Abstract | Full Text Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa et al. Genetics in Medicine 2017 20 :486 - 494; August 17, 2017; 10.1038/gim.2017.129   Abstract | Full Text Clinical and genetic analysis of a rare syndrome associated with neoteny Richard F Walker, Serban Ciotlos, Qing Mao, Robert Chin, Snezana Drmanac et al. Genetics in Medicine 2017 20 :495 - 502; September 21, 2017; 10.1038/gim.2017.140   Abstract | Full Text A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number Jonathan J Lyons, Stephanie C Stotz, Jack Chovanec, Yihui Liu, Katie L Lewis et al. Genetics in Medicine 2017 20 :503 - 512; September 21, 2017; 10.1038/gim.2017.136   Abstract | Full Text Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott et al. Genetics in Medicine 2017 20 :513 - 523; October 26, 2017; 10.1038/gim.2017.134   Abstract | Full Text A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features Matthias Zielonka, Sven F Garbade, Stefan Kölker, Georg F Hoffmann & Markus Ries Genetics in Medicine 2017 20 :524 - 530; October 19, 2017; 10.1038/gim.2017.133   Abstract | Full Text Impact of HIPAA’s minimum necessary standard on genomic data sharing Barbara J Evans & Gail P Jarvik Genetics in Medicine 2017 20 :531 - 535; September 14, 2017; 10.1038/gim.2017.141   Abstract | Full Text Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients Naif A M Almontashiri, Abdulrahman Alswaid, Andrea Oza, Khalid A Al-Mazrou, Omnia Elrehim et al. Genetics in Medicine 2017 20 :536 - 544; October 19, 2017; 10.1038/gim.2017.143   Abstract | Full Text Navigating the research–clinical interface in genomic medicine: analysis from the CSER Consortium Susan M Wolf, Laura M Amendola, Jonathan S Berg, Wendy K Chung, Ellen Wright Clayton et al. Genetics in Medicine 2017 20 :545 - 553; August 31, 2017; 10.1038/gim.2017.137   Abstract | Full Text Brief Report Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants Adam H Buchanan, Kandamurugu Manickam, Michelle N Meyer, Jennifer K Wagner, Miranda L G Hallquist et al. Genetics in Medicine 2017 20 :554 - 558; October 26, 2017; 10.1038/gim.2017.145   Abstract | Full Text Podcast Podcast FREE Podcast 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. 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