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donderdag 7 december 2017

Genetics in Medicine contents: Volume 19, Issue 12

Genetics in Medicine

TABLE OF CONTENTS

Volume 19, Issue 12 (December 2017)

In this issue
Online Only Reviews
Research Highlights
Reviews
Invited Commentary
Original Research Articles
Brief Report
Online Only Letters
Podcast


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Online Only Reviews

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations OPEN

Jeffrey M Chinsky, Rani Singh, Can Ficicioglu, Clara D M van Karnebeek, Markus Grompe, Grant Mitchell, Susan E Waisbren, Muge Gucsavas-Calikoglu, Melissa P Wasserstein, Katie Coakley and C Ronald Scott

Genet Med 2017 19: ; advance online publication, August 3, 2017; 10.1038/gim.2017.101

Abstract | Full Text

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H Cohen, David Dimmock, Gregory M Enns, Marni J Falk, Annette Feigenbaum, Richard E Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P Saneto, Fernando Scaglia, John Shoffner, Peter W Stacpoole, Carolyn M Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman and Patrick F Chinnery

Genet Med 2017 19: ; advance online publication, July 27, 2017; 10.1038/gim.2017.107

Abstract | Full Text

Research Highlights

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In This Issue

Genet Med 2017 19: 1287; 10.1038/gim.2017.202

Full Text

News Briefs

Genet Med 2017 19: 1288; 10.1038/gim.2017.225

Full Text

Reviews

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Sharing data under the 21st Century Cures Act

Mary A Majumder, Christi J Guerrini, Juli M Bollinger, Robert Cook-Deegan and Amy L McGuire

Genet Med 2017 19: 1289-1294; advance online publication, May 25, 2017; 10.1038/gim.2017.59

Abstract | Full Text

Invited Commentary

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Should we implement population screening for fragile X?

David P Dimmock

Genet Med 2017 19: 1295-1299; advance online publication, August 3, 2017; 10.1038/gim.2017.81

Full Text

Original Research Articles

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders OPEN

Maja Tarailo-Graovac, Jing Yun Alice Zhu, Allison Matthews, Clara D M van Karnebeek and Wyeth W Wasserman

Genet Med 2017 19: 1300-1308; advance online publication, May 4, 2017; 10.1038/gim.2017.50

Abstract | Full Text

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations

Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram and Pu Dai

Genet Med 2017 19: 1309-1316; advance online publication, May 25, 2017; 10.1038/gim.2017.54

Abstract | Full Text

Do the data really support ordering fragile X testing as a first-tier test without clinical features? OPEN

Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A Chapman, Nicholas Ah Mew and Sean Hofherr

Genet Med 2017 19: 1317-1322; advance online publication, May 25, 2017; 10.1038/gim.2017.64

Abstract | Full Text

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families

Emma Healey, Natalie Taylor, Sian Greening, Claire E Wakefield, Linda Warwick, Rachel Williams and Kathy Tucker

Genet Med 2017 19: 1323-1331; advance online publication, May 11, 2017; 10.1038/gim.2017.52

Abstract | Full Text

Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases

Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu and Jason Chibuk

Genet Med 2017 19: 1332-1337; advance online publication, June 15, 2017; 10.1038/gim.2017.56

Abstract | Full Text

Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

Lisa Hui, Briohny Hutchinson, Alice Poulton and Jane Halliday

Genet Med 2017 19: 1338-1345; advance online publication, May 18, 2017; 10.1038/gim.2017.55

Abstract | Full Text

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening

Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Grad Dip Gen Couns, Rob Carter, Jonathan Cohen, Megan Cotter, M GenCouns, William Dang, Martin B Delatycki, Susan Donath, Samantha Edwards, PGrad Dip Educ, Grad Dip Gen Couns, Robin Forbes, Grad Dip Gen Couns, Mioara Gavrila, M MedSci, Jane Halliday, Chriselle Hickerton, Melissa Hill, Grad Dip Gen Couns, Lorilli Jacobs, PGrad Dip Ultrasound, Vicki Petrou, Grad Dip Gen Couns, Loren Plunkett, M GenCouns, Leslie Sheffield, F RACP, Alison Thornton, Grad Dip Gen Couns, Sandra Younie, PGrad Dip Hlth Econ and Jon D Emery

Genet Med 2017 19: 1346-1355; advance online publication, June 29, 2017; 10.1038/gim.2017.67

Abstract | Full Text

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients OPEN

Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami and Tsutomu Ogata

Genet Med 2017 19: 1356-1366; advance online publication, May 31, 2017; 10.1038/gim.2017.53

Abstract | Full Text

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Ashleigh R Pavey, Dale L Bodian, Thierry Vilboux, Alina Khromykh, Natalie S Hauser, Kathi Huddleston, Elisabeth Klein, Aaron Black, Megan S Kane, Ramaswamy K Iyer, John E Niederhuber and Benjamin D Solomon

Genet Med 2017 19: 1367-1375; advance online publication, June 15, 2017; 10.1038/gim.2017.57

Abstract | Full Text

Brief Report

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Quantifying survival in patients with Proteus syndrome

Julie C Sapp, Lian Hu, Jean Zhao, Ashlyn Gruber, Brian Schwartz, Dora Ferrari and Leslie G Biesecker, MD

Genet Med 2017 19: 1376-1379; advance online publication, June 29, 2017; 10.1038/gim.2017.65

Abstract | Full Text

Online Only Letters

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Improving the evaluation of milestones for students completing a clinical genetics elective

Paul Laissue, Carlos M Restrepo and Angela María Ortiz

Genet Med 2017 19: ; advance online publication, May 11, 2017; 10.1038/gim.2017.62

Full Text

Response to Laissue et al.

Katharine Press and Joann Bodurtha

Genet Med 2017 19: ; advance online publication, May 11, 2017; 10.1038/gim.2017.63

Full Text

Management of ophthalmologic manifestations of mitochondrial diseases

Nancy J Newman, Patrick Yu-Wai-Man, Alfredo A Sadun, Rustum Karanjia and Valerio Carelli

Genet Med 2017 19: ; advance online publication, October 26, 2017; 10.1038/gim.2017.171

Full Text

Response to Newman et al.

Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H Cohen, David Dimmock, Gregory M Enns, Marni J Falk, Annette Feigenbaum, Richard E Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P Saneto, Fernando Scaglia, John Shoffner, Peter W Stacpoole, Carolyn M Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman and Patrick F Chinnery

Genet Med 2017 19: ; advance online publication, October 26, 2017; 10.1038/gim.2017.164

Full Text

Health effects of the CPT1A P479L variant: responsible public health policy

David M Koeller, Matt Hirschfeld, Stephanie Birch, Thalia Wood, Rebekah Morisse, Sabra Anckner and Bradford D Gessner

Genet Med 2017 19: ; advance online publication, August 3, 2017; 10.1038/gim.2017.116

Full Text

Response to Koeller et al.

Alison E Fohner, Nanibaa' A Garrison, Melissa A Austin and Wylie Burke

Genet Med 2017 19: ; advance online publication, August 10, 2017; 10.1038/gim.2017.117

Full Text

Fragile X testing as a second-tier test

Taila Hartley, Ryan Potter, Lauren Badalato, Amanda C Smith, Olga Jarinova and Kym M Boycott

Genet Med 2017 19: ; advance online publication, September 14, 2017; 10.1038/gim.2017.147

Full Text

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath, Katrina Dipple, Eric Vilain, Derek A Wong, Joshua L Deignan, Stephen D. Cederbaum, Wayne W Grody and Julian A Martinez-Agosto

Genet Med 2017 19: ; advance online publication, September 21, 2017; 10.1038/gim.2017.146

Full Text

Response to Hartley et al. and Mullegama et al.

Pranoot Tanpaiboon and Kimberly A Chapman

Genet Med 2017 19: ; advance online publication, September 21, 2017; 10.1038/gim.2017.148

Full Text

Podcast

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Podcast

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