Tuesday, March 1, 2016

Genetics in Medicine contents: Volume 18, Issue 3

Genetics in Medicine
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TABLE OF CONTENTS

Volume 18, Issue 3 (March 2016)

In this issue
Research Highlights
Commentaries
Original Research Article
Letter to the Editor
Announcement
Erratum
Podcast
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Research Highlights

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In this Issue

Genet Med 2016 18: 213; 10.1038/gim.2016.4

Full Text

Commentaries

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Newborn testing and screening by whole-genome sequencing

Stephen F. Kingsmore

Genet Med 2016 18: 214-216; advance online publication, December 17, 2015; 10.1038/gim.2015.172

Full Text

Should states adopt newborn screening for early infantile Krabbe disease?

David P. Dimmock

Genet Med 2016 18: 217-220; advance online publication, February 4, 2016; 10.1038/gim.2016.6

Full Text

Original Research Article

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Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates OPEN

Dale L. Bodian, Elisabeth Klein, Ramaswamy K. Iyer, Wendy S. W. Wong, Prachi Kothiyal, Daniel Stauffer, Kathi C. Huddleston, Amber D. Gaither, Irina Remsburg, Alina Khromykh, Robin L. Baker, George L. Maxwell, Joseph G. Vockley, John E. Niederhuber and Benjamin D. Solomon

Genet Med 2016 18: 221-230; advance online publication, September 3, 2015; 10.1038/gim.2015.111

Abstract | Full Text

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

Mei W. Baker, Anne E. Atkins, Suzanne K. Cordovado, Miyono Hendrix, Marie C. Earley and Philip M. Farrell

Genet Med 2016 18: 231-238; advance online publication, February 12, 2015; 10.1038/gim.2014.209

Abstract | Full Text

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra-Matiz, David A. Wenger, Patricia K. Duffner, Richard W. Erbe, Chad Biski, Monica Martin, Lea M. Krein, Matthew Nichols, Joanne Kurtzberg, Maria L. Escolar, Darius J. Adams, Georgianne L. Arnold, Alejandro Iglesias, Patricia Galvin-Parton, David F. Kronn, Jennifer M. Kwon, Paul A. Levy, Joan E. Pellegrino, Natasha Shur, Melissa P. Wasserstein and Michele Caggana the New York State Krabbe Disease Consortium

Genet Med 2016 18: 239-248; advance online publication, January 21, 2016; 10.1038/gim.2015.211

Abstract | Full Text

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

Nicola Kerruish

Genet Med 2016 18: 249-258; advance online publication, June 11, 2015; 10.1038/gim.2015.73

Abstract | Full Text

Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California

Hao Tang, Lisa Feuchtbaum, Partha Neogi, Thomson Ho, Leslie Gaffney and Robert J. Currier

Genet Med 2016 18: 259-264; advance online publication, December 10, 2015; 10.1038/gim.2015.154

Abstract | Full Text

Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium OPEN

Frédéric B. Piel, Thomas V. Adamkiewicz, Djesika Amendah, Thomas N. Williams, Sunetra Gupta and Scott D. Grosse

Genet Med 2016 18: 265-274; advance online publication, December 3, 2015; 10.1038/gim.2015.143

Abstract | Full Text

Letter to the Editor

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Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern?

Trilochan Sahoo, Karine Hovanes, Michelle N. Strecker, Natasa Dzidic, Sara Commander and Mary K. Travis

Genet Med 2016 18: 275-276; advance online publication, January 21, 2016; 10.1038/gim.2015.196

Full Text

Response to Sahoo et al.

Svetlana A. Yatsenko, David G. Peters and Aleksandar Rajkovic

Genet Med 2016 18: 277; advance online publication, January 21, 2016; 10.1038/gim.2015.195

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Announcement

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Announcement

Genet Med 2016 18: 278-279; 10.1038/gim.2015.213

Full Text

Erratum

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ERRATUM: Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium

Genet Med 2016 18: 280; 10.1038/gim.2015.203

Full Text

Podcast

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