Genetics in Medicine

Volume 21 Issue 2, February 2019

Inspiration for this piece came from studying nautical charts while sailing with my husband along the coast of North Carolina. I was fascinated by the lines, shapes and symbols of the charts. I added found objects of feathers and shells collected on the trip.

See more of Nancy’s watermedia collage paintings at www.nancysmithfineart.com.

Volume 21 Issue 2

In this Issue

In This Issue

Raye Alford
In This Issue 05 Feb 2019
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News

News

Raye Alford
News 05 Feb 2019

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Invited Comment

Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?

Scott D. Grosse
Lauge Farnaes

Innovations In:

The DNA drug revolution
Invited Comment 13 Aug 2018

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Comment

Big data phenotyping in rare diseases: some ethical issues

Nina Hallowell
Michael Parker
Christoffer Nellåker

Collection:

Ethical, Legal, and Social Issues
Comment Open Access 15 Jun 2018

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Article

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

Mahim Jain
Allison Tam
Sandesh C. S. Nagamani
Article 04 Jul 2018
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

Francesco Mazzarotto
Francesca Girolami
Iacopo Olivotto

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 06 Jun 2018
The functional impact of variants of uncertain significance in BRCA2

Romy L. S. Mesman
Fabienne M. G. R. Calléja
Maaike P. G. Vreeswijk

Focus:

Focus on Hematology/Oncology
Article Open Access 10 Jul 2018
Clinical genome sequencing in an unbiased pediatric cohort

Isabelle Thiffault
Emily Farrow
Carol Saunders
Article Open Access 16 Jul 2018
Physicians’ perspectives on receiving unsolicited genomic results

Douglas B. Pet
Ingrid A. Holm
Ellen W. Clayton

Collection:

Ethical, Legal, and Social Issues
Article 05 Jul 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themes

Sabine A. Fuchs
Imre F. Schene
Peter M. van Hasselt
Article 06 Jun 2018
Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework

R. Ryanne Wu
Rachel A. Myers
Lori A Orlando
Article 06 Jun 2018
Novel phenotype–disease matching tool for rare genetic diseases

Jing Chen
Huan Xu
Ge Zhang
Article 12 Jun 2018
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder

Matthias Zielonka
Sven F. Garbade
Markus Ries
Article 06 Jun 2018
Macrocytic anemia in Lesch–Nyhan disease and its variants

Hasan F. Cakmakli
Rosa J. Torres
H. A. Jinnah
Article 06 Jun 2018
Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

Seung-been Lee
Marsha M. Wheeler
Deborah A. Nickerson
Article 06 Jun 2018
Understanding the potential of state-based public health genomics programs to mitigate disparities in access to clinical genetic services

Laura Senier
Catherine Tan
Rachael Lee
Article 12 Jun 2018
Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee

Jason L. Vassy
Annjanette Stone
Steven A. Schichman
Article 01 Jun 2018
Evaluation of polygenic risk models using multiple performance measures: a critical assessment of discordant results

Forike K. Martens
Elisa C. M. Tonk
A. Cecile J. W. Janssens
Article 12 Jun 2018
The landscape of epilepsy-related GATOR1 variants

Sara Baldassari
Fabienne Picard
Stéphanie Baulac

Focus:

Focus on Neurology
Article Open Access 10 Aug 2018
Returning negative results to individuals in a genomic screening program: lessons learned

Rita M. Butterfield
James P. Evans
Gail E. Henderson

Collection:

Ethical, Legal, and Social Issues
Article 06 Jun 2018
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions

N. T. Leach
D. R. Wilson Mathews
R. A. Heim
Article 15 Jun 2018
The impact of variant classification on the clinical management of hereditary cancer syndromes

Scott A. Turner
Smita K. Rao
Georgia L. Wiesner

Focus:

Focus on Hematology/Oncology
Article 06 Jun 2018
ZP2 pathogenic variants cause in vitro fertilization failure and female infertility

Can Dai
Liang Hu
Ge Lin

Focus:

Focus on Obstetrics and Gynecology
Article 12 Jun 2018
TRPV1 variants impair intracellular Ca²⁺ signaling and may confer susceptibility to malignant hyperthermia

Fabien Vanden Abeele
Sabine Lotteau
Natalia Prevarskaya

Focus:

Focus on Neurology
Article Open Access 21 Jun 2018
Introducing medical genetics services in Ethiopia using the MiGene Family History App

Shane C. Quinonez
Abate Yeshidinber
Solomie Jebessa
Article 11 Jun 2018
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Victoria R. Sanders
Stephen H. Sheldon
Joel Charrow

Focus:

Focus on Neurology
Article 05 Jun 2018
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

Karthik A. Jagadeesh
Johannes Birgmeier
Gill Bejerano
Article 12 Jul 2018
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality

Tara L. Wenger
Richard A. Hopper
Amy Lee

Focus:

Focus on Neurology
Article 18 Jun 2018
Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts

Marsha M. Wheeler
Kerry W. Lannert
Jill M. Johnsen
Article 29 Jun 2018
Gene modification therapies: views of parents of people with Down syndrome

Marsha Michie
Megan Allyse

Collection:

Ethical, Legal, and Social Issues
Article 21 Jun 2018

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Education Report

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Jasmine Lee-Barber
Violet Kulo
Joann Bodurtha
Education Report 21 Jun 2018

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Special Article

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

Jan M. Friedman
Yvonne Bombard
Bartha Maria Knoppers

Collections:

The DNA drug revolution

Ethical, Legal, and Social Issues
Special Article Open Access 12 Jun 2018
Normative and conceptual ELSI research: what it is, and why it’s important

Lisa S. Parker
Pamela L. Sankar
David Kaufman

Collection:

Ethical, Legal, and Social Issues
Special Article 04 Jul 2018

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Correspondence

First, do no harm: direct-to-consumer genetic testing

Jennifer Schleit
Lorraine V. Naylor
Fuki M. Hisama
Correspondence 14 Jun 2018

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Correction

Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Hiroki Maruyama
Kaori Miyata
Satoshi Ishii
Correction 07 Sept 2018
Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Zornitza Stark
Deborah Schofield
Susan M. White
Correction 29 Aug 2018

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