Volume 21 Issue 3, March 2019

In this Issue

In This Issue

Raye Alford
In This Issue 04 Mar 2019
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News

News

Raye Alford
News 04 Mar 2019

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Review Article

HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders

George A. Mensah
Wei Yu
Muin J. Khoury
Review Article 10 Sept 2018

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Article

Including ELSI research questions in newborn screening pilot studies

Aaron J. Goldenberg
Michele Lloyd-Puryear
Michael Watson

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues
Article 13 Aug 2018

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Comment

Paradigm shifts in newborn screening?

Anne Marie Comeau
Comment 10 Aug 2018
MOVR—NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases

R. Rodney Howell
Stephan Zuchner

Focus:

Focus on Neurology
Comment 22 Jun 2018
Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?

Tia Moscarello
Brittney Murray
Erin Demo
Comment Open Access 12 Jul 2018
Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations

Amalia M. Issa
Adrian Thorogood
Bartha M. Knoppers

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues
Comment Open Access 10 Jul 2018

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Article

Genomic and phenotypic delineation of congenital microcephaly

Ranad Shaheen
Sateesh Maddirevula
Fowzan S. Alkuraya
Article 14 Sept 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stéphanie Valence
Emmanuelle Cochet
Lydie Burglen

Focus:

Focus on Neurology
Article 12 Jul 2018
Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Lin Yang
Yanting Kong
Wenhao Zhou

Focus:

Focus on Neurology
Article 21 Jun 2018
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Illja J. Diets
Trine Prescott
Tjitske Kleefstra

Focus:

Focus on Neurology
Article 15 Jun 2018
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

Sven F. Garbade
Nan Shen
Nenad Blau
Article 12 Jul 2018
microRNAs as biomarkers in Pompe disease

Antonietta Tarallo
Annamaria Carissimo
Giancarlo Parenti

Focus:

Focus on Neurology
Article 12 Jul 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines
Katie Golden-Grant
Heather C. Mefford
Article Open Access 24 Sept 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

Edwin P. Kirk
Kristine Barlow-Stewart
Tony Roscioli

Focus:

Focus on Obstetrics and Gynecology
Article 02 Jul 2018
Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution

Amandine Moriot
Diana Hall

Focus:

Focus on Obstetrics and Gynecology
Article 03 Aug 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

Casie A. Genetti
Talia S. Schwartz
Timothy W. Yu

Focus:

Focus on Public Health
Article 13 Sept 2018
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa P. Wasserstein
Michele Caggana
Joseph J. Orsini

Focus:

Focus on Obstetrics and Gynecology
Article 10 Aug 2018
Noncardiac genetic predisposition in sudden infant death syndrome

Belinda Gray
David J. Tester
Elijah R. Behr
Article 24 Aug 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Andre E. Minoche
Claire Horvat
Diane Fatkin

Focus:

Focus on Vascular Surgery and Cardiology
Article 02 Jul 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan
Juanita Neira
Pengfei Liu
Article 30 Aug 2018
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Julie W. Rutten
Bastian J. Van Eijsden
Saskia A. J. Lesnik Oberstein

Focus:

Focus on Neurology
Article Open Access 22 Jul 2018
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

Marcy E. Richardson
Hansook Chong
Aaron Elliott

Focus:

Focus on Hematology/Oncology
Article Open Access 28 Jul 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration

Farzad Jamshidi
Emily M. Place
Kinga M. Bujakowska

Focus:

Focus on Ophthalmology
Article 03 Aug 2018
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Susan Richter
Laura Gieldon
Barbara Klink

Focus:

Focus on Hematology/Oncology
Article 27 Jul 2018
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

Leigh Jackson
Anita O’Connor
Martina C. Cornel
Article Open Access 27 Jul 2018
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Kelly E. Ormond
Miranda L. G. Hallquist
W. Andrew Faucett

Collection:

Ethical, Legal, and Social Issues
Article 06 Jul 2018
Autozygome and high throughput confirmation of disease genes candidacy

Sateesh Maddirevula
Fatema Alzahrani
Fowzan S. Alkuraya
Article Open Access 21 Sept 2018

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Brief Communication

Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

Kenneth D. Levy
Kathryn Blake
Geoffrey S. Ginsburg
Brief Communication Open Access 12 Jul 2018
Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes

Ilana M. Miller
Katie L. Lewis
Leslie G. Biesecker

Focus:

Focus on Vascular Surgery and Cardiology
Brief Communication 12 Jul 2018
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

Jennifer T. Saville
Belinda K. McDermott
Maria Fuller
Brief Communication 31 Jul 2018

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Correspondence

Addressing the accuracy of direct-to-consumer genetic testing

Shirley Wu
Jeffrey Pollard
Robert Gentleman
Correspondence 29 Jun 2018
Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical

Stephany Tandy-Connor
Kate Krempely
Brigette Tippin Davis
Correspondence 27 Jun 2018
Response to Biesecker

Bryce A. Mendelsohn
Marta Sabbadini
Correspondence 27 Jul 2018
Response to Mendelsohn and Sabbadini

Leslie G. Biesecker
Correspondence 19 Jul 2018

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Correction

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
Correction 02 Oct 2018
Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

Matthew Neil Wakeling
Thomas William Laver
Sian Ellard
Correction Open Access 16 Nov 2018

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Volume 21 Issue 3, March 2019

In this Issue

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Review Article

Article

Comment

Article

Brief Communication

Correspondence

Correction

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