Genetics in Medicine

Volume 21 Issue 12, December 2019

“I design and create handwoven textiles that take inspiration from data, encoding information within them. There are currently two main sources of inspiration for my work: genetics, where the pieces created are informed by DNA sequences and intergenerational connections, and sounds. Sequence: Contract encodes the DNA sequence for the MHY6 gene.”

More of the artist’s work can be seen at http://www.lynnesloom.co.uk and on Instagram (@lynnesloom).

Volume 21 Issue 12

In this Issue

In This Issue

V. L. Dengler
In This Issue 04 Dec 2019
Advertisement

Top of page ⤴

News

News

V. L. Dengler
News 04 Dec 2019

Top of page ⤴

Systematic Review

Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis

Caroline Pearce
Emma Goettke
Christopher McKevitt

Focus:

Focus on Public Health
Systematic Review 12 Jun 2019
Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature

Adrienne Nugent
Kelly R. Conatser
Luisel J. Ricks-Santi

Collections:

Focus on Public Health

Diversity

Focus on Hematology/Oncology
Systematic Review Open Access 04 Jun 2019

Top of page ⤴

Comment

Genomic databases, subpoenas, and Certificates of Confidentiality

Leslie E. Wolf
Laura M. Beskow

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues
Comment Open Access 26 Jun 2019
Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature

Judith L. Fridovich-Keil
Grace Carlock
Angela Wittenauer
Comment 04 Jun 2019

Top of page ⤴

Article

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Carine A. Halaby
Sarah P. Young
Priya S. Kishnani

Collections:

Focus on Endocrinology

Focus on Gastrointestinal Diseases

Focus on Pediatrics
Article 02 Jul 2019
Oncogenic effects of germline variants in lysosomal storage disease genes

Junghoon Shin
Daeyoon Kim
Sung-Soo Yoon

Focus:

Focus on Hematology/Oncology
Article 25 Jul 2019
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Manon Suerink
Mar Rodríguez-Girondo
Maartje Nielsen

Focus:

Focus on Hematology/Oncology
Article 17 Jun 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

Mathilde Nizon
Vincent Laugel
Bertrand Isidor

Collections:

Focus on Neurology

Focus on Pediatrics
Article 03 Jun 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D. H. Konrad
Niels Nardini
Christiane Zweier

Focus:

Focus on Neurology
Article Open Access 26 Jun 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Virginie G. Peter
Mathieu Quinodoz
Belinda Campos-Xavier
Article Open Access 02 Jul 2019
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

Meng Li
Lingyun Mei
Yong Feng
Article 05 Jul 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T. M. Blackburn
Nasim Bekheirnia
Mir Reza Bekheirnia

Collections:

Focus on Neurology

Focus on Pediatrics
Article 02 Jul 2019
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Ozlem Senol-Cosar
Ryan J. Schmidt
Matthew S. Lebo
Article 31 May 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Nathalie Brison
Jazz Storms
Kris Van Den Bogaert

Collections:

Focus on Neurology

Focus on Pediatrics
Article 14 Jun 2019
Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies

Jill O. Robinson
Julia Wynn
Stacy W. Gray

Collection:

Ethical, Legal, and Social Issues
Article 13 Jun 2019
Responsibility, culpability, and parental views on genomic testing for seriously ill children

Janet Malek
Stacey Pereira
Amy L. McGuire

Collections:

Ethical, Legal, and Social Issues

Focus on Pediatrics
Article 12 Jun 2019
The value of diagnostic testing for parents of children with rare genetic diseases

Deborah A. Marshall
Karen V. MacDonald
Kym M. Boycott

Focus:

Focus on Pediatrics
Article 26 Jun 2019
PEDIA: prioritization of exome data by image analysis

Tzung-Chien Hsieh
Martin A. Mensah
Peter M. Krawitz
Article Open Access 05 Jun 2019
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

Max Catchpool
Jay Ramchand
Ilias Goranitis

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 20 Jun 2019

Top of page ⤴

Brief Communication

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Rocio Rius
Mark J. Cowley
John Christodoulou

Collections:

Focus on Neurology

Focus on Obstetrics and Gynecology
Brief Communication 07 Jun 2019
Genetic data partnerships: academic publications with privately owned or generated genetic data

Kayte Spector-Bagdady
Amanda Fakih
J. Scott Roberts

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues
Brief Communication 17 Jun 2019
Chronic kidney disease in propionic acidemia

Oleg A. Shchelochkov
Irini Manoli
Charles P. Venditti

Focus:

Focus on Pediatrics
Brief Communication 28 Jun 2019

Top of page ⤴

Correspondence

Response to “The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)”

Robert L. Nussbaum
Eden Haverfield
Swaroop Aradhya
Correspondence 26 Jun 2019
ACMG response to Nussbaum et al. letter on ACMG policy statement: the use of secondary findings recommendations for general population screening: a policy statement of the ACMG

Correspondence 26 Jun 2019
Cost-effectiveness of population genomic screening

David L. Veenstra
Greg Guzauskas
Marc Williams
Correspondence 15 Jul 2019
Response to Veenstra et al.

Paul Lacaze
Jane Tiller
Lei Zhang
Correspondence 15 Jul 2019

Top of page ⤴

Addendum

Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Michael T. Bashford
Wendy Kohlman
Toni I. Pollin
Addendum 23 Jul 2019

Top of page ⤴

Correction

Correction: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

A. Eliot Shearer
Jun Shen
Richard J. Smith
Correction Open Access 18 Jun 2019
Correction: Delivering genomic medicine in the UK National Health Service: a systematic review and narrative synthesis

Caroline Pearce
Emma Goettke
Christopher McKevitt
Correction 25 Jun 2019
Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

Christine Rini
Gail E. Henderson
Myra I. Roche
Correction 25 Jul 2019

Top of page ⤴

Search

Advanced search

Quick links