Volume 19 Issue 2, February 2017

On the cover | RuthAnanda

“Little Five Points”

Little Five Points (acrylic on canvas, textile, 36” × 60”). “The bold lines are reminiscent of an old-fashioned multistripe patterned point blanket. There are five trees, and the longest side is 5 feet.” More of the artist’s work can be seen at http://www.RuthAnanda.com.

In This Issue

In This Issue

In This Issue 03 Feb 2017

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News Briefs

News Briefs

News Briefs 03 Feb 2017

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Review

How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease

Ole Haagen Nielsen
Eric Charles LaCasse

Focus:

Focus on Gastrointestinal Diseases
Review 14 Jul 2016

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Systematic Review

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Julia N. Bailey
Christopher Patterson
Antonio V. Delgado-Escueta

Focus:

Focus on Neurology
Systematic Review 28 Jul 2016

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Commentary

Distributive justice, diversity, and inclusion in precision medicine: what will success look like?

Elizabeth G. Cohn
Gail E. Henderson
Paul S. Appelbaum

Collection:

Diversity
Commentary Open Access 04 Aug 2016

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Original Research Article

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Christina Lam
Carlos Ferreira
Lynne Wolfe
Original Research Article 07 Jul 2016
Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases

Graziano Pescia
Nicolas Guex
Bernard Conrad
Original Research Article Open Access 30 Jun 2016
Is “incidental finding” the best term?: a study of patients’ preferences

Nina Tan
Laura M. Amendola
Gail P. Jarvik
Original Research Article 04 Aug 2016
Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia

Shuhua Yi
Zengjun Li
Lugui Qiu
Original Research Article 28 Jul 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh
Kate L. Thomson
Hugh Watkins

Focus:

Focus on Vascular Surgery and Cardiology
Original Research Article Open Access 17 Aug 2016
Obesity in adults with 22q11.2 deletion syndrome

Sarah L. Voll
Erik Boot
Anne S. Bassett
Original Research Article 18 Aug 2016
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

Aaron M. Wenger
Harendra Guturu
Gill Bejerano
Original Research Article 21 Jul 2016
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

Kelly E. Caudle
Henry M. Dunnenberger
James M. Hoffman
Original Research Article Open Access 21 Jul 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Kelly D. Farwell Hagman
Deepali N. Shinde
Sha Tang
Original Research Article Open Access 11 Aug 2016

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Brief Report

Milestones for medical students completing a clinical genetics elective

Katharine R. Press
Joann Bodurtha
Brief Report 01 Sept 2016
The significant impact of education, poverty, and race on Internet-based research participant engagement

Sarah M. Hartz
Tiffany Quan
Laura J. Bierut
Brief Report Open Access 28 Jul 2016
Macrocephaly associated with the DICER1 syndrome

Nicholas E. Khan
Andrew J. Bauer
Douglas R. Stewart
Brief Report 21 Jul 2016

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ACMG Statement

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia
Kathy Adelman
David T. Miller

Collection:

ACMG Statements and Guidelines
ACMG Statement 17 Nov 2016

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ACMG Standards and Guidelines

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

J. Daniel Sharer
Olaf Bodamer
Sarah Young

Collection:

ACMG Statements and Guidelines
ACMG Standards and Guidelines 05 Jan 2017

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Volume 19 Issue 2, February 2017

In This Issue

In This Issue

News Briefs

News Briefs

Review

How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease

Systematic Review

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Commentary

Distributive justice, diversity, and inclusion in precision medicine: what will success look like?

Original Research Article

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases

Is “incidental finding” the best term?: a study of patients’ preferences

Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Obesity in adults with 22q11.2 deletion syndrome

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Brief Report

Milestones for medical students completing a clinical genetics elective

The significant impact of education, poverty, and race on Internet-based research participant engagement

Macrocephaly associated with the DICER1 syndrome

ACMG Statement

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

ACMG Standards and Guidelines

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

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