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maandag 6 februari 2017

Genetics in Medicine contents: Volume 19, Issue 2

Genetics in Medicine

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


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ACMG 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

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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

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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

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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

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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

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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

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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

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Podcast

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