Meeting summary: ethical aspects of whole exome and whole genome sequencing studies (WES/WGS) in rare diseases, Tel Aviv, Israel, January 2013

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

The past, present and future of the debate over return of research results and incidental findings

(2012) Susan M. Wolf   GENETICS IN MEDICINE

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

(2012) Susan M. Wolf et al.   GENETICS IN MEDICINE

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

Obtaining ‘fresh’ consent for genetic research with biological samples archived 10 years ago

(2009) Eric Vermeulen et al.   EUROPEAN JOURNAL OF CANCER

The ethical use of existing samples for genome research

(2009) Oliver F Bathe et al.   GENETICS IN MEDICINE