Volume 23 Issue 2, February 2021

“Sea Glass” is fiber art by Susan Brubaker Knapp. Susan painted the blue-green-yellow fabric, and then overlaid it with a piece of Lutradur (spun-bond polyester) that she cut in the shapes of smooth sea glass. Then she machine stitched with thread around the shapes. More of the artist's work can be seen on her website: www.bluemoonriver.com

Sea Glass by Susan Brubaker Knapp

In this Issue

In This Issue

In This Issue 25 Jan 2021

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News

News

News 25 Jan 2021

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ACMG Technical Standard

Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Marcus J. Miller
Kristina Cusmano-Ozog
Sarah Young

Collection:

ACMG Statements and Guidelines
ACMG Technical Standard 19 Oct 2020

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Article

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Article 23 Oct 2020
(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada

Christine Michaels-Igbokwe
Brenda McInnes
Deborah A. Marshall

Collections:

Focus on Pediatrics

Focus on Public Health
Article 29 Sept 2020
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls

Kevin M. Bowling
Michelle L. Thompson
Gregory M. Cooper

Collections:

Ethical, Legal, and Social Issues

Focus on Public Health
Article 29 Sept 2020
Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives

Brent M. Kious
Anna R. Docherty
Hilary Coon

Collection:

Ethical, Legal, and Social Issues
Article 06 Oct 2020
Return of results in a global survey of psychiatric genetics researchers: practices, attitudes, and knowledge

Gabriel Lázaro-Muñoz
Laura Torgerson
Stacey Pereira

Collection:

Ethical, Legal, and Social Issues
Article 09 Oct 2020
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

Paulo C. M. Lyra Jr
Thales C. Nepomuceno
Alvaro N. A. Monteiro

Collections:

Focus on Genomic Variant Interpretation

Focus on Hematology/Oncology
Article Open Access 22 Oct 2020
Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Ines Kapferer-Seebacher
Elizabeth Oakley-Hannibal
Fleur S. van Dijk

Focus:

Focus on Dermatology
Article 02 Oct 2020
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Ramakrishnan Rajagopalan
Melissa A. Gilbert
Nancy B. Spinner

Focus:

Focus on Gastrointestinal Diseases
Article Open Access 20 Oct 2020
Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

Pauline Marzin
Briac Thierry
Valérie Cormier-Daire

Focus:

Focus on Pediatrics
Article 21 Oct 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Simone Schröder
Yun Li
Knut Brockmann

Collections:

Focus on Ophthalmology

Focus on Neurology
Article Open Access 07 Oct 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Lisa Lenaerts
Sara Reynhout
Veerle Janssens

Focus:

Focus on Neurology
Article Open Access 27 Oct 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger
Trine B. Hammer
Ingrid E. Scheffer

Focus:

Focus on Neurology
Article 04 Nov 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne
Shuxiang Goh
Philippe M. Campeau

Focus:

Focus on Neurology
Article 20 Oct 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet
Kirsty McWalter
Matias Wagner
Article Open Access 11 Nov 2020
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Carlos R. Ferreira
Mary E. Hackbarth
William A. Gahl

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Pediatrics
Article 02 Oct 2020

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Brief Communication

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

David A. Parry
Carol-Anne Martin
Andrew P. Jackson

Focus:

Focus on Neurology
Brief Communication Open Access 09 Oct 2020
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening

Wen-Chin Weng
Yu-Kan Hsu
Yin-Hsiu Chien

Collections:

Focus on Neurology

Focus on Pediatrics

Focus on Public Health
Brief Communication 09 Oct 2020

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Correspondence

Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al.

Anna Paola Capra
Emanuele Agolini
Silvana Briuglia
Correspondence 05 Oct 2020
Response to Briuglia et al.

Felix Marbach
Christian P. Schaaf
Correspondence 05 Oct 2020

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Correction

Correction: Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives

Brent M. Kious
Anna R. Docherty
Hilary Coon
Correction 22 Dec 2020

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Volume 23 Issue 2, February 2021

In this Issue

In This Issue

News

News

ACMG Technical Standard

Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Article

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada

Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls

Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives

Return of results in a global survey of psychiatric genetics researchers: practices, attitudes, and knowledge

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Brief Communication

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening

Correspondence

Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al.

Response to Briuglia et al.

Correction

Correction: Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives

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