Volume 19 Issue 8, August 2017

News Briefs

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

• Athena M Cherry
• Yassmine M Akkari
• Jeanne M Meck

Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data

• Alison E. Fohner
• Nanibaa’ A. Garrison
• Wylie Burke

The current state of implementation science in genomic medicine: opportunities for improvement

• Megan C. Roberts
• Amy E. Kennedy
• Muin J. Khoury

Conflicts of interest in genetic counseling: acknowledging and accepting

• Katie A. Stoll
• Amanda Mackison
• Marsha Michie

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

• Zornitza Stark
• Deborah Schofield
• Clara Gaff

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

• Thierry Vilboux
• Daniel A. Doherty
• Meral Gunay-Aygun

Recontacting participants for expanded uses of existing samples and data: a case study

• Stephanie C. Chen
• Benjamin E. Berkman
• Sara Chandros Hull

Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data

• Julie A. Lynch
• Brygida Berse
• John Kautter

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

• Hemant Bengani
• Mark Handley
• David R. FitzPatrick

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

• Anne Legrand
• Laurence Cornez
• Juliette Albuisson

A taxonomy of medical uncertainties in clinical genome sequencing

• Paul K.J. Han
• Kendall L. Umstead
• Barbara B. Biesecker

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience

• Rebecca C. Ahrens-Nicklas
• Ashley M. Whitaker
• Can Ficicioglu

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

• Yanming Feng
• Xiaoyan Ge
• Jinglan Zhang

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity

• Xue Chen
• Xunlun Sheng
• Chen Zhao

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma

• Andrew S. Brohl
• Rajesh Patidar
• Javed Khan

Motivations of participants in the citizen science of microbiomics: data from the British Gut Project

• Lorenzo Del Savio
• Barbara Prainsack
• Alena Buyx

Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

• Chun-An Chen
• Daniëlle G M Bosch
• Christian Schaaf