Genetics in Medicine contents: Volume 18, Issue 6

TABLE OF CONTENTS Volume 18, Issue 6 (June 2016) In this issue Research Highlights Systematic Review Original Research Article ACMG Standards and Guidelines Erratum Corrigendum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights Top In This Issue Genet Med 2016 18: 533-534; 10.1038/gim.2016.65 Full Text Systematic Review Top Multigene panels in prostate cancer risk assessment: a systematic review Julian Little, Brenda Wilson, Ron Carter, Kate Walker, Pasqualina Santaguida, Eva Tomiak, Joseph Beyene, Muhammad Usman Ali and Parminder Raina Genet Med 2016 18: 535-544; advance online publication, October 1, 2015; 10.1038/gim.2015.125 Abstract | Full Text Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation Ahmad N. Abou Tayoun, Saeed H. Al Turki, Andrea M. Oza, Mark J. Bowser, Amy L. Hernandez, Birgit H. Funke, Heidi L. Rehm and Sami S. Amr Genet Med 2016 18: 545-553; advance online publication, November 12, 2015; 10.1038/gim.2015.141 Abstract | Full Text Original Research Article Top Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya, Shamsa Anazi, Hadeel Alsharif, Arif O. Khan, Asma Sunker, Saleh Al-mohsen, Emad B. Abboud, Sawsan R. Nowilaty, Mohammed Alowain, Hamad Al-Zaidan, Bandar Al-Saud, Ali Alasmari, Ghada M. H. Abdel-Salam, Mohamed Abouelhoda, Firdous M. Abdulwahab, Niema Ibrahim, Ewa Naim, Banan Al-Younes, Abeer E. AlMostafa, Abdulelah AlIssa, Mais Hashem, Olga Buzovetsky, Yong Xiong, Dorota Monies, Nada Altassan, Ranad Shaheen, Selwa A. F. Al-Hazzaa and Fowzan S. Alkuraya Genet Med 2016 18: 554-562; advance online publication, September 10, 2015; 10.1038/gim.2015.127 Abstract | Full Text Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing Jun-Seok Bae, Nayoung K. D. Kim, Chung Lee, Sang Cheol Kim, Hey Ran Lee, Hae-Ryong Song, Kun Bo Park, Hyun Woo Kim, Soon Hyuck Lee, Ha Yong Kim, Soon Chul Lee, Changhoon Jeong, Moon Seok Park, Won Joon Yoo, Chin Youb Chung, In Ho Choi, Ok-Hwa Kim, Woong-Yang Park and Tae-Joon Cho Genet Med 2016 18: 563-569; advance online publication, September 24, 2015; 10.1038/gim.2015.129 Abstract | Full Text Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta S. Bellur, M. Jain, D. Cuthbertson, D. Krakow, J. R. Shapiro, R. D. Steiner, P. A. Smith, M. B. Bober, T. Hart, J. Krischer, M. Mullins, P. H. Byers, M. Pepin, M. Durigova, F. H. Glorieux, F. Rauch, V. R. Sutton, B. Lee, Members of the BBD Consortium and S. C. Nagamani Genet Med 2016 18: 570-576; advance online publication, October 1, 2015; 10.1038/gim.2015.131 Abstract | Full Text Participant use and communication of findings from exome sequencing: a mixed-methods study Katie L. Lewis, Gillian W. Hooker, Philip D. Connors, Travis C. Hyams, Martha F. Wright, Samantha Caldwell, Leslie G. Biesecker and Barbara B. Biesecker Genet Med 2016 18: 577-583; advance online publication, November 5, 2015; 10.1038/gim.2015.133 Abstract | Full Text Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy Holly Etchegary, Glenn Enright, Rick Audas, Daryl Pullman, Terry-Lynn Young and Kathy Hodgkinson Genet Med 2016 18: 584-592; advance online publication, October 29, 2015; 10.1038/gim.2015.132 Abstract | Full Text The promise and peril of genomic screening in the general population Michael C. Adams, James P. Evans, Gail E. Henderson and Jonathan S. Berg ; GeneScreen Investigators Genet Med 2016 18: 593-599; advance online publication, November 5, 2015; 10.1038/gim.2015.136 Abstract | Full Text Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing Daliya Kancheva, Derek Atkinson, Peter De Rijk, Magdalena Zimon, Teodora Chamova, Vanyo Mitev, Ahmet Yaramis, Gian Maria Fabrizi, Haluk Topaloglu, Ivailo Tournev, Yesim Parma, Esra Battaloglu, Alejandro Estrada-Cuzcano and Albena Jordanova Genet Med 2016 18: 600-607; advance online publication, October 22, 2015; 10.1038/gim.2015.139 Abstract | Full Text Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency OPEN William P. Bone, Nicole L. Washington, Orion J. Buske, David R. Adams, Joie Davis, David Draper, Elise D. Flynn, Marta Girdea, Rena Godfrey, Gretchen Golas, Catherine Groden, Julius Jacobsen, Sebastian Köhler, Elizabeth M. J. Lee, Amanda E. Links, Thomas C. Markello, Christopher J. Mungall, Michele Nehrebecky, Peter N. Robinson, Murat Sincan, Ariane G. Soldatos, Cynthia J. Tifft, Camilo Toro, Heather Trang, Elise Valkanas, Nicole Vasilevsky, Colleen Wahl, Lynne A. Wolfe, Cornelius F. Boerkoel, Michael Brudno, Melissa A. Haendel, William A. Gahl and Damian Smedley Genet Med 2016 18: 608-617; advance online publication, November 12, 2015; 10.1038/gim.2015.137 Abstract | Full Text The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data Daniel F. Wallace and V. Nathan Subramaniam Genet Med 2016 18: 618-626; advance online publication, December 3, 2015; 10.1038/gim.2015.140 Abstract | Full Text Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation Sylvie Pelletier, Nora Wong, Zaki El Haffaf, William D. Foulkes, Jocelyne Chiquette, Pavel Hamet, Jacques Simard and Michel Dorval Genet Med 2016 18: 627-634; advance online publication, November 5, 2015; 10.1038/gim.2015.135 Abstract | Full Text ACMG Standards and Guidelines Top Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities Fady M. Mikhail, Nyla A. Heerema, Kathleen W. Rao, Rachel D. Burnside, Athena M. Cherry and Linda D. Cooley ; on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee Genet Med 2016 18: 635-642; advance online publication, April 28, 2016; 10.1038/gim.2016.50 Abstract | Full Text Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities Linda D. Cooley, Cynthia C. Morton, Warren G. Sanger, Debra F. Saxe and Fady M. Mikhail ; on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee Genet Med 2016 18: 643-648; advance online publication, April 28, 2016; 10.1038/gim.2016.51 Abstract | Full Text Erratum Top ERRATUM: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis Genet Med 2016 18: 649; 10.1038/gim.2016.46 Full Text Corrigendum Top CORRIGENDUM: Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology Genet Med 2016 18: 650; 10.1038/gim.2016.2 Full Text Podcast Top Podcast FREE Podcast You have been sent this Table of Contents Alert because you have opted in to receive it. 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