Volume 22 Issue 10, October 2020

“Golden Flow is one of a series I call “Corona Creations.” The recent quarantine has afforded me the luxury of uninterrupted studio time. Golden Flow is one of several abstract compositions exploring the movement of color. All are original, hand-pulled screen prints.” More of the artist’s work can be seen at https://www.houseoflifeprints.com.

Golden Flow | Vidabeth Bensen

In this Issue

In This Issue

In This Issue 14 Sept 2020

Advertisement

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News

News

News 14 Sept 2020

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Comment

What’s in a name? Issues to consider when naming Mendelian disorders

Sonja A. Rasmussen
Ada Hamosh
Anne Stumpf
Comment Open Access 18 Jun 2020

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Article

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Claire Green
Neeti Ghali
Fleur S. van Dijk

Focus:

Focus on Dermatology
Article 23 Jun 2020
Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon

Sharon L. Paige
Kirstie M. Lechich
R. Thomas Collins II

Focus:

Focus on Vascular Surgery and Cardiology
Article 09 Jun 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

Daisy Rymen
Martijn Lindhout
Saskia B. Wortmann

Collections:

Focus on Neurology

Focus on Pediatrics

Therapeutics and Clinical Trials
Article 21 Aug 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

Francisco del Caño-Ochoa
Bobby G. Ng
Santiago Ramón-Maiques

Collections:

Focus on Neurology

Focus on Pediatrics
Article Open Access 28 May 2020
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots

Xinying Hong
Jessica Daiker
Michael H. Gelb

Collections:

Focus on Public Health

Focus on Pediatrics
Article 10 Jun 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Perrine Pennamen
Linh Le
Benoit Arveiler

Collections:

Focus on Dermatology

Focus on Hematology/Oncology
Article 22 Jun 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma
Saira Yousoof
Robyn V. Jamieson

Focus:

Focus on Ophthalmology
Article Open Access 05 Jun 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Bo Yuan
Lei Wang
Weimin Bi

Focus:

Focus on Genomic Variant Interpretation
Article 24 Jun 2020
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants

Corey L. Anderson
Tim C. Routes
Timothy J. Kamp

Focus:

Focus on Genomic Variant Interpretation
Article 01 Jun 2020
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou

Collections:

Focus on Hematology/Oncology

Focus on Public Health
Article Open Access 15 Jul 2020
Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience

Colin M. E. Halverson
Sarah T. Bland
Ellen Wright Clayton

Collections:

Ethical, Legal, and Social Issues

Focus on Public Health
Article Open Access 18 Jun 2020
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Chen-Han Wilfred Wu
Nina Mann
Friedhelm Hildebrandt
Article 01 Jun 2020
Automated syndrome diagnosis by three-dimensional facial imaging

Benedikt Hallgrímsson
J. David Aponte
Ophir D. Klein

Collections:

Focus on Pediatrics

Focus on Public Health
Article Open Access 01 Jun 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

Kristjan E. Kaseniit
Imran S. Haque
Dale Muzzey

Collections:

Diversity

Focus on Obstetrics and Gynecology

Focus on Public Health
Article Open Access 29 Jun 2020
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

Rachel Michaelson-Cohen
Liat Salzer-Sheelo
Idit Maya
Article 03 Jul 2020

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Education Report

Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project

Megan D. Maxwell
Rebecca Hsu
Mauricio De Castro

Collections:

Genetic Counseling

Focus on Public Health
Education Report 10 Jul 2020

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Brief Communication

Training the next generation of genomic medicine providers: trends in medical education and national assessment

Shoumita Dasgupta
Gerald L. Feldman
Darrel J. Waggoner

Focus:

Focus on Public Health
Brief Communication 18 Jun 2020
The limited use of US residual newborn screening dried bloodspots for health disparity research

Naomi O. Riches
Erin P. Johnson
Erin Rothwell

Collections:

Diversity

Ethical, Legal, and Social Issues

Focus on Pediatrics

Focus on Public Health
Brief Communication 12 Jun 2020

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Correspondence

Confirmation of risk of cancer in blepharocheilodontic syndrome

Jamal Ghoumid
Sophie Lejeune
Sylvie Manouvrier-Hanu
Correspondence 02 Jun 2020

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Correction

Correction: Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group

Lori A. Orlando
Nina R. Sperber
Laura J. Damschroder
Correction 27 Jul 2020
Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

Kenneth D. Levy
Kathryn Blake
Geoffrey S. Ginsburg
Correction Open Access 27 Jul 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava
Jamie A. Love-Nichols
David T. Miller
Correction Open Access 29 Jul 2020

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Volume 22 Issue 10, October 2020

In this Issue

In This Issue

News

News

Comment

What’s in a name? Issues to consider when naming Mendelian disorders

Article

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Automated syndrome diagnosis by three-dimensional facial imaging

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

Education Report

Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project

Brief Communication

Training the next generation of genomic medicine providers: trends in medical education and national assessment

The limited use of US residual newborn screening dried bloodspots for health disparity research

Correspondence

Confirmation of risk of cancer in blepharocheilodontic syndrome

Correction

Correction: Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group

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

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

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