Volume 20 Issue 7, July 2018

This art was created to represent chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project. The various brightly colored chromosomes overlapping and taking on hues of adjacent chromosomes symbolize the structural variations resulting from these arrangements.

ACMG Practice Guidelines

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Douglas R Stewart
Bruce R Korf
Kaleb Yohay

Collection:

ACMG Statements and Guidelines
ACMG Practice Guideline 26 Apr 2018
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ACMG Technical Standards

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Renata C Gallagher
Laura Pollard
Qin Sun

Collection:

ACMG Statements and Guidelines
ACMG Technical Standard 15 Mar 2018

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ACMG Practice Guidelines

Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Lynn W Bush
Louis E Bartoshesky
Ingrid A Holm

Collection:

ACMG Statements and Guidelines
ACMG Practice Guideline 22 Mar 2018

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Invited Comment

Is prenatal genomic testing ready for prime time?

Margaret P Adam

Focus:

Focus on Obstetrics and Gynecology
Invited Comment 22 Mar 2018

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Article

Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics

Zirui Dong
Huilin Wang
Kwong Wai Choy
Article 02 Nov 2017
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Sandesh C S Nagamani
Umang Agarwal
Juan C Marini
Article 12 Oct 2017
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Dorien Baetens
Tülay Güran
Elfride De Baere

Focus:

Focus on Endocrinology
Article Open Access 26 Oct 2017
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

Franziska Simm
Anne Griesbeck
Gudrun A Rappold

Focus:

Focus on Endocrinology
Article Open Access 26 Oct 2017
Pathways from autism spectrum disorder diagnosis to genetic testing

Krysta S Barton
Holly K Tabor
Wylie Burke
Article 19 Oct 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Sarah Boissel
Catherine Fallet-Bianco
Jacques L Michaud
Article 26 Oct 2017
Low frequency of Fabry disease in patients with common heart disease

Raphael Schiffmann
Caren Swift
Xiaoyang Wu

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 26 Oct 2017
The who, what, and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

Christine Rini
Cynthia M Khan
Gail E Henderson
Article 26 Oct 2017
RET somatic mutations are underrecognized in Hirschsprung disease

Qian Jiang
Fang Liu
Long Li

Focus:

Focus on Gastrointestinal Diseases
Article 26 Oct 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Muhammad Ansar
Saima Riazuddin
Stylianos E Antonarakis
Article Open Access 24 Aug 2017

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Special Article

School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease

Meredith A Chambers
David T Miller
Nicole J Ullrich
Special Article 26 Oct 2017

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Volume 20 Issue 7, July 2018

ACMG Practice Guidelines

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

ACMG Technical Standards

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

ACMG Practice Guidelines

Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Invited Comment

Is prenatal genomic testing ready for prime time?

Article

Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

Pathways from autism spectrum disorder diagnosis to genetic testing

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Low frequency of Fabry disease in patients with common heart disease

The who, what, and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

RET somatic mutations are underrecognized in Hirschsprung disease

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Special Article

School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease

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