Volume 19 Issue 12, December 2017

News Briefs

Sharing data under the 21st Century Cures Act

• Mary A Majumder
• Christi J Guerrini
• Amy L McGuire

Should we implement population screening for fragile X?

• David P Dimmock

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

• Maja Tarailo-Graovac
• Jing Yun Alice Zhu
• Wyeth W Wasserman

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations

• Mingyu Han
• Zhifeng Li
• Pu Dai

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

• Veronique Weinstein
• Pranoot Tanpaiboon
• Sean Hofherr

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families

• Emma Healey
• Natalie Taylor
• Kathy Tucker

Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases

• Mathias Ehrich
• John Tynan
• Jason Chibuk

Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

• Lisa Hui
• Briohny Hutchinson
• Jane Halliday

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening

• Sylvia A Metcalfe
• Melissa Martyn
• Jon D Emery

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

• Masayo Kagami
• Keisuke Nagasaki
• Tsutomu Ogata

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

• Ashleigh R Pavey
• Dale L Bodian
• Benjamin D Solomon

Quantifying survival in patients with Proteus syndrome

• Julie C Sapp
• Lian Hu
• Leslie G Biesecker, MD

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

• Jeffrey M Chinsky
• Rani Singh
• C Ronald Scott

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

• Sumit Parikh
• Amy Goldstein
• Patrick F Chinnery

Health effects of the CPT1A P479L variant: responsible public health policy

• David M Koeller
• Matt Hirschfeld
• Bradford D Gessner

Response to Koeller et al.

• Alison E Fohner
• Nanibaa' A Garrison
• Wylie Burke

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

• Sureni V Mullegama
• Steven D Klein
• Julian A Martinez-Agosto

Fragile X testing as a second-tier test

• Taila Hartley
• Ryan Potter
• Kym M Boycott

Response to Hartley et al. and Mullegama et al.

• Pranoot Tanpaiboon
• Kimberly A Chapman

Response to Newman et al.

• Sumit Parikh
• Amy Goldstein
• Patrick F Chinnery

Management of ophthalmologic manifestations of mitochondrial diseases

• Nancy J Newman
• Patrick Yu-Wai-Man
• Valerio Carelli

Improving the evaluation of milestones for students completing a clinical genetics elective

• Paul Laissue
• Carlos M Restrepo
• Angela María Ortiz

Response to Laissue et al.

• Katharine Press
• Joann Bodurtha