Genetics in Medicine

Volume 20 Issue 11, November 2018

On the surface this painting shows beads of a liquid resting on a solid surface. Yet perhaps the bubbles are moving through three dimensional space carrying some valuable cargo from one place and time to another. Some things float and some things sink to the bottom. This image shows matter on a journey, moving, changing, sometimes coming to rest.

Volume 20 Issue 11

In this Issue

In this issue

Karyn Hede
In This Issue 04 Dec 2018
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News

News

Karyn Hede
News 04 Dec 2018

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ACMG Policy Statement

Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics

Collection:

ACMG Statements and Guidelines
ACMG Policy Statement 22 Aug 2018

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Review Article

The power of heredity and the relevance of eugenic history

Paul A. Lombardo

Collections:

Focus on Public Health

ACMG 2019: Welcoming Dr. Robert Steiner to Genetics in Medicine

GIM's 20th Anniversary Reviews Collection

Ethical, Legal, and Social Issues
Review Article 31 Jul 2018

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Systematic Review

Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing

Glenn E Palomaki
Edward M Kloza

Focus:

Focus on Obstetrics and Gynecology
Systematic Review 26 Apr 2018

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Comment

A counseling framework for moderate-penetrance colorectal cancer susceptibility genes

Bryson W Katona
Matthew B Yurgelun
Zsofia K Stadler

Focus:

Focus on Gastrointestinal Diseases
Comment 01 Mar 2018

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Article

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

Ahmed Alfares
Taghrid Aloraini
Majid Alfadhel
Article 22 Mar 2018
ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

Bruce D Gelb
Hélène Cavé
Lisa M Vincent
Article 01 Mar 2018
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study

Jean-Marc Costa
Alexandra Letourneau
Alexandra Benachi

Focus:

Focus on Obstetrics and Gynecology
Article 01 Mar 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Nataliya Di Donato
Andrew E Timms
William B Dobyns

Focus:

Focus on Neurology
Article 19 Apr 2018
Point-of-care whole-exome sequencing of idiopathic male infertility

Khalid A Fakhro
Haitham Elbardisi
Ronald G Crystal

Collections:

Focus on Endocrinology

Focus on Obstetrics and Gynecology
Article 12 Apr 2018
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

Johanna C Herkert
Kristin M Abbott
Jan D H Jongbloed

Focus:

Focus on Vascular Surgery and Cardiology
Article 08 Mar 2018
Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease

Nadine A Kasparian
Richard De Abreu Lourenco
Edwin P E Kirk

Focus:

Focus on Vascular Surgery and Cardiology
Article 01 Mar 2018
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities

Monica H Wojcik
Talia S Schwartz
Pankaj B Agrawal
Article 12 Apr 2018
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome

Jacob W P Potuijt
Martijn Baas
Annelies de Klein
Article 15 Mar 2018
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

Ruwan Weerakkody
David Ross
Timothy J Aitman

Focus:

Focus on Vascular Surgery and Cardiology
Article 15 Mar 2018
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Julie B Eisengart
Kyle D Rudser
Chester B Whitley
Article Open Access 08 Mar 2018
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Natalie Chandler
Sunayna Best
Lyn S Chitty

Focus:

Focus on Obstetrics and Gynecology
Article Open Access 29 Mar 2018
Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization

Sukh Makhnoon
Brian H Shirts
Stephanie M Fullerton

Focus:

Focus on Hematology/Oncology
Article 01 Mar 2018
Familial communication and cascade testing among relatives of BRCA population screening participants

Sari Lieberman
Amnon Lahad
Ephrat Levy-Lahad

Focus:

Focus on Hematology/Oncology
Article 29 Mar 2018
Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease

Danton S Char
Sandra Soo-Jin Lee
Mildred Cho

Collections:

Focus on Vascular Surgery and Cardiology

Ethical, Legal, and Social Issues
Article 01 Mar 2018
“Well, good luck with that”: reactions to learning of increased genetic risk for Alzheimer disease

Doris T Zallen

Focus:

Focus on Neurology
Article 08 Mar 2018

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Brief Communication

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis

Zöe Powis
Kelly D Farwell Hagman
Sha Tang
Brief Communication 22 Mar 2018
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

Karin Huijsdens–van Amsterdam
Roy Straver
Erik A Sistermans

Focus:

Focus on Obstetrics and Gynecology
Brief Communication 01 Mar 2018

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Correspondence

Do RET somatic mutations play a role in Hirschsprung disease?

Erwin Brosens
Katherine C MacKenzie
Robert M W Hofstra

Focus:

Focus on Gastrointestinal Diseases
Correspondence 01 Mar 2018
Response to Brosens et al

Qian Jiang
Xiaoli Chen
Long Li
Correspondence 01 Mar 2018
Response to Peron et al.

Bjørt K Kragesteen
Denis Duboule
Malte Spielmann
Correspondence 01 Mar 2018
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome

Angela Peron
Simona Boito
Faustina Lalatta
Correspondence 08 Mar 2018

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Correction

Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Alison Dalton Archibald
Melanie Jane Smith
David J Amor
Correction 01 Feb 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Kristin McDonald Gibson
Addie Nesbitt
Avni Santani
Correction 08 Feb 2018

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