Volume 18 Issue 9, September 2016

News Briefs

Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses

• Sigurdis Haraldsdottir
• Heather Hampel
• Tanios Bekaii-Saab

Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome

• Min Chen
• Mingjue Zhao
• Samuel S. Chong

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom

• Daniele Carrieri
• Anneke M. Lucassen
• Susan E. Kelly

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

• Tim Van Damme
• Alain Colige
• Fransiska Malfait

“You want the right amount of oversight”: interviews with data access committee members and experts on genomic data access

• Mahsa Shabani
• Pascal Borry

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

• Katherine L. Helbig
• Kelly D. Farwell Hagman
• Ingo Helbig

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

• David J. Carey
• Samantha N. Fetterolf
• David H. Ledbetter

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

• Wilhelmina S. Kerstjens-Frederikse
• Ingrid M.B.H. van de Laar
• M.W. Wessels

Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees

• Natalie M. Baptista
• Kurt D. Christensen
• Robert C. Green

Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A

• Bradford D. Gessner
• Thalia Wood
• David M. Koeller

Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

• Zirui Dong
• Jun Zhang
• Zhengfeng Xu

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

• Glen R. Monroe
• Gerardus W. Frederix
• Gijs van Haaften

2016 ACMG Annual Meeting presidential address: the practice of medical genetics: myths and realities

• Gerald L. Feldman