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dinsdag 9 januari 2018

Genetics in Medicine contents: Volume 20, Issue 1

Genetics in Medicine

TABLE OF CONTENTS

Volume 20, Issue 1 (January 2018)

In this issue
Research Highlights
ACMG Standards and Guidelines
Commentary
Original Research Articles
Brief Report
Erratum
Corrigendum
Podcast


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Research Highlights

In This Issue

Genet Med 2018 20: 1; 10.1038/gim.2017.237

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News Briefs

Genet Med 2018 20: 2; 10.1038/gim.2017.248

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ACMG Standards and Guidelines

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

Marzia Pasquali, Chunli Yu and Bradford Coffee on behalf of the ACMG Laboratory Quality Assurance Committee

Genet Med 2018 20: 3-11; advance online publication, October 26, 2017; 10.1038/gim.2017.172

Abstract | Full Text

Commentary

Happy birthday, Genetics in Medicine!

James P Evans

Genet Med 2018 20: 12-13; advance online publication, December 7, 2017; 10.1038/gim.2017.205

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Original Research Articles

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics OPEN

Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadsall, Bethany Stokes, Ping Hu, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado and Maximilian Muenke

Genet Med 2018 20: 14-23; advance online publication, June 22, 2017; 10.1038/gim.2017.68

Abstract | Full Text

Survival trends from the Prader–Willi Syndrome Association (USA) 40-year mortality survey

Ann M Manzardo, James Loker, Janalee Heinemann, Carolyn Loker and Merlin G Butler

Genet Med 2018 20: 24-30; advance online publication, July 6, 2017; 10.1038/gim.2017.92

Abstract | Full Text

Genomic diagnostics within a medically underserved population: efficacy and implications

Kevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Katie B Williams, Alejandra K King, Cristopher Van Hout, Donna L Robinson, Millie Young, Kavita Praveen, Adam D Heaps, Mindy Kuebler, Aris Baras, Jeffrey G Reid, John D Overton, Frederick E Dewey, Robert N Jinks, Ian Finnegan, Scott J Mellis, Alan R Shuldiner and Erik G Puffenberger

Genet Med 2018 20: 31-41; advance online publication, July 20, 2017; 10.1038/gim.2017.76

Abstract | Full Text

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history OPEN

Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann and Marianne Rohrbach

Genet Med 2018 20: 42-54; advance online publication, June 15, 2017; 10.1038/gim.2017.70

Abstract | Full Text

Systematic design and comparison of expanded carrier screening panels OPEN

Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, Gregory J Hogan, Kambiz Karimi, Sophie I Candille, Nikita Mehta, Rebecca Mar-Heyming, K Eerik Kaseniit, H Peter Kang, Eric A Evans, James D Goldberg, Gabriel A Lazarin and Imran S Haque

Genet Med 2018 20: 55-63; advance online publication, June 22, 2017; 10.1038/gim.2017.69

Abstract | Full Text

GWAS signals revisited using human knockouts

Sateesh Maddirevula, Fatema AlZahrani, Shams Anazi, Mariam Almureikhi, Tawfeg Ben-Omran, Ghada M H Abdel-Salam, Mais Hashem, Niema Ibrahim, Firdous M Abdulwahab, Neama Meriki, Fahad A Bashiri, Meow-Keong Thong, Premala Muthukumarasamy, Rifhan Azwani Mazlan, Ranad Shaheen and Fowzan S Alkuraya

Genet Med 2018 20: 64-68; advance online publication, June 22, 2017; 10.1038/gim.2017.78

Abstract | Full Text

Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup

Carol Ko, Patricia Arscott, Maryann Concannon, Sara Saberi, Sharlene M Day, Beverly M Yashar and Adam S Helms

Genet Med 2018 20: 69-75; advance online publication, June 22, 2017; 10.1038/gim.2017.79

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Broad consent for health care–embedded biobanking: understanding and reasons to donate in a large patient sample

Gesine Richter, Michael Krawczak, Wolfgang Lieb, Lena Wolff, Stefan Schreiber and Alena Buyx

Genet Med 2018 20: 76-82; advance online publication, June 22, 2017; 10.1038/gim.2017.82

Abstract | Full Text

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance OPEN

Devin Oglesbee, Tina M Cowan, Marzia Pasquali, Timothy C Wood, Karen E Weck, Thomas Long and Glenn E Palomaki

Genet Med 2018 20: 83-90; advance online publication, June 29, 2017; 10.1038/gim.2017.61

Abstract | Full Text

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, Mariana F A Funari, Carolina Bezanilla-López, Marta Alonso-Bernáldez, Jimena Barraza-García, Maria Rodriguez-Zabala, Antonio M Lerario, Sara Benito-Sanz, Miriam Aza-Carmona, Angel Campos-Barros, Alexander A L Jorge and Karen E Heath

Genet Med 2018 20: 91-97; advance online publication, June 28, 2017; 10.1038/gim.2017.66

Abstract | Full Text

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A Grebe, Natalie S Hauser, Wolfram Heinritz, Katherine L Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, G Christoph Korenke, Johannes R Lemke, Richard E Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn and Knut Brockmann

Genet Med 2018 20: 98-108; advance online publication, June 29, 2017; 10.1038/gim.2017.75

Abstract | Full Text

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg and John W M Creemers

Genet Med 2018 20: 109-118; advance online publication, July 20, 2017; 10.1038/gim.2017.74

Abstract | Full Text

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

Kari G Chaffee, Ann L Oberg, Robert R McWilliams, Neil Majithia, Brian A Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup and Gloria M Petersen

Genet Med 2018 20: 119-127; advance online publication, July 20, 2017; 10.1038/gim.2017.85

Abstract | Full Text

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon and Mordechai Shohat

Genet Med 2018 20: 128-131; advance online publication, July 20, 2017; 10.1038/gim.2017.89

Abstract | Full Text

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone

Kurt D Christensen, Wendy R Uhlmann, J Scott Roberts, Erin Linnenbringer, Peter J Whitehouse, Charmaine D M Royal, Thomas O Obisesan, L Adrienne Cupples, Melissa B Butson, Grace-Ann Fasaye, Susan Hiraki, Clara A Chen, Uwe Siebert, Robert Cook-Deegan and Robert C Green for the REVEAL Study Group

Genet Med 2018 20: 132-141; advance online publication, July 20, 2017; 10.1038/gim.2017.103

Abstract | Full Text

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

Dinel Pond, Florence A Arts, Nancy J Mendelsohn, Jean-Baptiste Demoulin, Gunter Scharer and Yoav Messinger

Genet Med 2018 20: 142-150; advance online publication, July 20, 2017; 10.1038/gim.2017.104

Abstract | Full Text

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism OPEN

Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, Clara D M van Karnebeek and Nenad Blau

Genet Med 2018 20: 151-158; advance online publication, July 20, 2017; 10.1038/gim.2017.108

Abstract | Full Text

Brief Report

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith, Stephen B Montgomery, Matthew Wheeler, Jillian G Buchan, Christine C Lambert, Kevin S Eng, Luke Hickey, Jonas Korlach, James Ford and Euan A Ashley

Genet Med 2018 20: 159-163; advance online publication, June 22, 2017; 10.1038/gim.2017.86

Abstract | Full Text

Erratum

Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadssal, Bethany Stokes, Ping Hu, Ariel F Martinez, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado and Maximilian Muenke

Genet Med 2018 20: 164; 10.1038/gim.2017.183

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Corrigendum

Corrigendum: What are people willing to pay for whole-genome sequencing information, and who decides what they receive?

Deborah A Marshall, Juan Marcos Gonzalez, F Reed Johnson, Karen V MacDonald, Amy Pugh, Michael P Douglas and Kathryn A Phillips

Genet Med 2018 20: 165; advance online publication, October 26, 2017; 10.1038/gim.2017.184

Full Text

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