Volume 22 Issue 6, June 2020

Sun and Sea Jars | DeDe Richardson

DeDe Richardson’s pottery is driven by texture and movement. She loves making pieces that are not only beautiful to look at but irresistible to touch. The cover shows a close-up of some of the cracked-surface jars she creates. More of the artist’s work can be seen at http://www.picklepiepottery.com.

In this Issue

In This Issue

V. L. Dengler
In This Issue 04 Jun 2020
Advertisement

Top of page ⤴

News

News

V. L. Dengler
News 04 Jun 2020

Top of page ⤴

ACMG Statement

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

Sarah T. South
Michelle McClure
Michael S. Watson

Collection:

ACMG Statements and Guidelines
ACMG Statement 04 Mar 2020

Top of page ⤴

ACMG Systematic Evidence Review

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Jennifer Malinowski
David T. Miller
Jun Shen

Collection:

ACMG Statements and Guidelines
ACMG Systematic Evidence Review 23 Mar 2020

Top of page ⤴

Article

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai
Jenny Lord
L. Archer

Focus:

Focus on Genomic Variant Interpretation
Article Open Access 03 Mar 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

Miriam S. Reuter
Rajiv R. Chaturvedi
Rebekah K. Jobling

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Pediatrics
Article Open Access 10 Feb 2020
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Christie P. Thomas
Margaret E. Freese
Richard J. Smith
Article Open Access 17 Mar 2020
Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders

Lauren A. Borch
Jillian Parboosingh
Pamela Veale

Collections:

Focus on Public Health

Focus on Neurology

Focus on Pediatrics
Article 10 Mar 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Michael E. Coulter
Damir Musaev
Christopher A. Walsh

Collections:

Focus on Neurology

Focus on Pediatrics
Article Open Access 27 Feb 2020
The morbid genome of ciliopathies: an update

Hanan E. Shamseldin
Ranad Shaheen
Fowzan S. Alkuraya

Focus:

Focus on Neurology
Article 14 Feb 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Matias Wagner
Jonathan Lévy
Thomas Opladen

Collections:

Focus on Neurology

Focus on Pediatrics
Article 26 Feb 2020
Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

Line Kenborg
Anne Katrine Duun-Henriksen
Jeanette F. Winther

Collections:

Focus on Neurology

Focus on Hematology/Oncology
Article 28 Feb 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Erin Zampaglione
Benyam Kinde
Kinga M. Bujakowska

Focus:

Focus on Ophthalmology
Article Open Access 10 Feb 2020
Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors

Sonya Reid
Deborah Cragun
Tuya Pal

Collections:

Genetic Counseling

Focus on Hematology/Oncology
Article 18 Feb 2020
Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol’s evolution

Stephanie A. Kraft
Carmit McMullen
Sandra Soo-Jin Lee

Collections:

Diversity

Ethical, Legal, and Social Issues
Article 24 Feb 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

Peter Witters
Shawn Tahata
Eva Morava

Collections:

Focus on Neurology

Focus on Pediatrics

Therapeutics and Clinical Trials
Article 27 Feb 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

Adam J. Guenzel
Coleman T. Turgeon
Dietrich Matern

Collections:

Focus on Public Health

Focus on Neurology

Focus on Pediatrics
Article 24 Feb 2020
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

Bong Jik Kim
Doo-Yi Oh
Byung Yoon Choi
Article 17 Mar 2020

Top of page ⤴

Correction

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai
Jenny Lord
L. Archer
Correction Open Access 01 Apr 2020
Correction: Interpretation of mitochondrial tRNA variants

Lee-Jun C. Wong
Ting Chen
William J. Craigen
Correction 09 Apr 2020

Top of page ⤴

Volume 22 Issue 6, June 2020

In this Issue

In This Issue

News

News

ACMG Statement

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Systematic Evidence Review

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Article

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

The morbid genome of ciliopathies: an update

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors

Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol’s evolution

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

Correction

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Correction: Interpretation of mitochondrial tRNA variants

Search

Quick links