Volume 18 Issue 4, April 2016

News Briefs

Age-related macular degeneration: genome-wide association studies to translation

• James R. M. Black
• Simon J. Clark

Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research

• Sandi Dheensa
• Angela Fenwick
• Anneke Lucassen

Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders

• Brenda Finucane
• Thomas D. Challman
• David H. Ledbetter

Individual DNA samples and health information sold by 23andMe

• Shelin Adam
• Jan M. Friedman

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

• Malgorzata I. Srebniak
• Lutgarde C. P. Govaerts
• Diane Van Opstal

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

• Surabhi Mulchandani
• Elizabeth J. Bhoj
• Laura K. Conlin

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement

• Ana Margarida Medeiros
• Ana Catarina Alves
• Mafalda Bourbon

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

• Fernando Bellido
• Marta Pineda
• Laura Valle

Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene

• Annie Dupuis
• Katherine Keenan
• Tanja Gonska

Clinical phenotype of the recurrent 1q21.1 copy-number variant

• Raphael Bernier
• Kyle J. Steinman
• Wendy K. Chung

Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome

• Lily Van
• Nancy J. Butcher
• Anne S. Bassett

Aortic dilation, genetic testing, and associated diagnoses

• Yuri A. Zarate
• Elizabeth Sellars
• R. Thomas Collins II

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

• Guney Bademci
• Joseph Foster II
• Mustafa Tekin

The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing

• Rivka Sukenik-Halevy
• Mark David Ludman
• Annick Raas-Rothschild

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

• Mauricio A. Sáez
• Juana Fernández-Rodríguez
• Manel Esteller

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

• Irini Manoli
• Jennifer G. Myles
• Charles P. Venditti

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

• Irini Manoli
• Jennifer G. Myles
• Charles P. Venditti

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

• Manon Suerink
• Heleen M. van der Klift
• Maartje Nielsen

The current state of cancer genetic counseling access and availability

• Sara Knapke
• Joy Larsen Haidle
• Sara Pirzadeh-Miller

Role of medical food in MMA

• Amy Cunningham
• Dianne Frazier
• Steven Yannicelli

Response to Cunningham et al.

• Irini Manoli
• Jennifer G. Myles
• Charles P. Venditti

Overcalling secondary findings

• Leslie G. Biesecker

Response to Biesecker

• Mi-Ae Jang
• Won Park
• Chang-Seok Ki

Erratum: Cystic fibrosis on the African continent