Volume 19 Issue 4, April 2017

News Briefs

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

• Dorien Baetens
• Hans Stoop
• Martine Cools

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

• Dana Hollenbeck
• Crescenda L. Williams
• Fady M. Mikhail

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

• Josephina A.N. Meester
• Geert Vandeweyer
• Bart L. Loeys

Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening

• Barry Wolf

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis

• Yvonne Bombard
• Fiona A. Miller
• Robin Z. Hayeems

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

• Mir Reza Bekheirnia
• Nasim Bekheirnia
• Dolores J. Lamb

Multidisciplinary model to implement pharmacogenomics at the point of care

• Pedro J. Caraballo
• Lucy S. Hodge
• Richard M. Weinshilboum

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

• Elfrida R. Benjamin
• Maria Cecilia Della Valle
• David J. Lockhart

Estimation of the number of people with Down syndrome in the United States

• Gert de Graaf
• Frank Buckley
• Brian G. Skotko

Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial

• Veronica F. Quinn
• Bettina Meiser
• Gillian Mitchell

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

• Caroline Van Cauwenbergh
• Kristof Van Schil
• Elfride De Baere

My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings

• Holly K. Tabor
• Seema M. Jamal
• Michael J. Bamshad

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

• Masayo Kagami
• Keiko Matsubara
• Tsutomu Ogata

Correction: Corrigendum: Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

Correction: Corrigendum: 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