Genetics in Medicine contents: Volume 19, Issue 2

TABLE OF CONTENTS Volume 19, Issue 2 (February 2017) In this issue Research Highlights Review Systematic Review Commentary Original Research Article Brief Report ACMG Statement ACMG Standards and Guidelines Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Genomics of Rare Disease (5-7 April 2017)  This conference will focus on how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease. The 11th in our series of meetings on rare diseases, blending genomic science and clinical medicine. Deadlines: Bursary: 1 Feb / Abstracts: 8 Feb / Registration: 8 Mar Research Highlights Top In This Issue Genet Med 2017 19: 131; 10.1038/gim.2017.2 Full Text News Briefs Genet Med 2017 19: 131-132; 10.1038/gim.2017.3 Full Text Review Top How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease Ole Haagen Nielsen and Eric Charles LaCasse Genet Med 2017 19: 133-143; advance online publication, July 14, 2016; 10.1038/gim.2016.82 Abstract | Full Text Systematic Review Top EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality Julia N. Bailey, Christopher Patterson, Laurence de Nijs, Reyna M. Durón, Viet-Huong Nguyen, Miyabi Tanaka, Marco T. Medina, Aurelio Jara-Prado, Iris E. Martínez-Juárez, Adriana Ochoa, Yolli Molina, Toshimitsu Suzuki, María E. Alonso, Jenny E. Wight, Yu-Chen Lin, Laura Guilhoto, Elza Marcia Targas Yacubian, Jesús Machado-Salas, Andrea Daga, Kazuhiro Yamakawa, Thierry M. Grisar, Bernard Lakaye and Antonio V. Delgado-Escueta Genet Med 2017 19: 144-156; advance online publication, July 28, 2016; 10.1038/gim.2016.86 Abstract | Full Text Commentary Top Distributive justice, diversity, and inclusion in precision medicine: what will success look like? OPEN Elizabeth G. Cohn, Gail E. Henderson and Paul S. Appelbaum ; for the Working Group on Representation and Inclusion in Precision Medicine Studies Genet Med 2017 19: 157-159; advance online publication, August 4, 2016; 10.1038/gim.2016.92 Full Text Original Research Article Top Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation Christina Lam, Carlos Ferreira, Donna Krasnewich, Camilo Toro, Lea Latham, Wadih M. Zein, Tanya Lehky, Carmen Brewer, Eva H. Baker, Audrey Thurm, Cristan A. Farmer, Sergio D. Rosenzweig, Jonathan J. Lyons, John M. Schreiber, Andrea Gropman, Shilpa Lingala, Marc G. Ghany, Beth Solomon, Ellen Macnamara, Mariska Davids, Constantine A. Stratakis, Virginia Kimonis, William A. Gahl and Lynne Wolfe Genet Med 2017 19: 160-168; advance online publication, July 7, 2016; 10.1038/gim.2016.75 Abstract | Full Text Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases OPEN Graziano Pescia, Nicolas Guex, Christian Iseli, Liam Brennan, Magne Osteras, Ioannis Xenarios, Laurent Farinelli and Bernard Conrad Genet Med 2017 19: 169-175; advance online publication, June 30, 2016; 10.1038/gim.2016.72 Abstract | Full Text Is “incidental finding” the best term?: a study of patients’ preferences Nina Tan, Laura M. Amendola, Julianne M. O’Daniel, Amber Burt, Martha J. Horike-Pyne, Lacey Boshe, Gail E. Henderson, Christine Rini, Myra I. Roche, Fuki M. Hisama, Wylie Burke, Benjamin Wilfond and Gail P. Jarvik Genet Med 2017 19: 176-181; advance online publication, August 4, 2016; 10.1038/gim.2016.96 Abstract | Full Text Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia Shuhua Yi, Zengjun Li, Dehui Zou, Gang An, Rui Cui, Shizhen Zhong, Heng Li, Wenjie Xiong, Chenwen Li, Weiwei Chen, Wei Liu, Rui Lv, Zhen Yu, Huijun Wang, Yan Xu, Keshu Zhou, Kun Ru, Jianxiang Wang, Tao Cheng and Lugui Qiu Genet Med 2017 19: 182-191; advance online publication, July 28, 2016; 10.1038/gim.2016.81 Abstract | Full Text Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples OPEN Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel,  Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins Genet Med 2017 19: 192-203; advance online publication, August 17, 2016; 10.1038/gim.2016.90 Abstract | Full Text Obesity in adults with 22q11.2 deletion syndrome Sarah L. Voll, Erik Boot, Nancy J. Butcher, Samantha Cooper, Tracy Heung, Eva W.C. Chow, Candice K. Silversides and Anne S. Bassett Genet Med 2017 19: 204-208; advance online publication, August 18, 2016; 10.1038/gim.2016.98 Abstract | Full Text Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers Aaron M. Wenger, Harendra Guturu, Jonathan A. Bernstein and Gill Bejerano Genet Med 2017 19: 209-214; advance online publication, July 21, 2016; 10.1038/gim.2016.88 Abstract | Full Text Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) OPEN Kelly E. Caudle, Henry M. Dunnenberger, Robert R. Freimuth, Josh F. Peterson, Jonathan D. Burlison, Michelle Whirl-Carrillo, Stuart A. Scott, Heidi L. Rehm, Marc S. Williams, Teri E. Klein, Mary V. Relling and James M. Hoffman Genet Med 2017 19: 215-223; advance online publication, July 21, 2016; 10.1038/gim.2016.87 Abstract | Full Text Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases OPEN Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Erica Smith, Kelly Radtke, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C. Chao, Wendy A. Alcaraz, Katherine L. Helbig, Samin A. Sajan, Mari Rossi, Hsiao-Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E. Nuñes and Sha Tang Genet Med 2017 19: 224-235; advance online publication, August 11, 2016; 10.1038/gim.2016.95 Abstract | Full Text Brief Report Top Milestones for medical students completing a clinical genetics elective Katharine R. Press and Joann Bodurtha Genet Med 2017 19: 236-239; advance online publication, September 1, 2016; 10.1038/gim.2016.89 Abstract | Full Text The significant impact of education, poverty, and race on Internet-based research participant engagement OPEN Sarah M. Hartz, Tiffany Quan, Abiye Ibiebele, Sherri L. Fisher, Emily Olfson, Patricia Salyer and Laura J. Bierut Genet Med 2017 19: 240-243; advance online publication, July 28, 2016; 10.1038/gim.2016.91 Abstract | Full Text Macrocephaly associated with the DICER1 syndrome Nicholas E. Khan, Andrew J. Bauer, Leslie Doros, Kris Ann P. Schultz, Rosamma M. Decastro, Laura A. Harney, Ron G. Kase, Ann G. Carr, Anne K. Harris, Gretchen M. Williams, Louis P. Dehner, Yoav H. Messinger and Douglas R. Stewart Genet Med 2017 19: 244-248; advance online publication, July 21, 2016; 10.1038/gim.2016.83 Abstract | Full Text ACMG Statement Top Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics Sarah S. Kalia, Kathy Adelman, Sherri J. Bale, Wendy K. Chung, Christine Eng, James P. Evans, Gail E. Herman, Sophia B. Hufnagel, Teri E. Klein, Bruce R. Korf, Kent D. McKelvey, Kelly E. Ormond, C. Sue Richards, Christopher N. Vlangos, Michael Watson, Christa L. Martin and David T. Miller ; on behalf of the ACMG Secondary Findings Maintenance Working Group Genet Med 2017 19: 249-255; advance online publication, November 17, 2016; 10.1038/gim.2016.190 Abstract | Full Text ACMG Standards and Guidelines Top Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics J. Daniel Sharer, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M.C. Wamelink and Sarah Young ; a Workgroup of the ACMG Laboratory Quality Assurance Committee Genet Med 2017 19: 256-263; advance online publication, January 5, 2017; 10.1038/gim.2016.203 Abstract | 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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