Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

Genetics of Neuropathies

(2012) Carly Siskind et al.   SEMINARS IN NEUROLOGY

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

(2011) PN Robinson et al.   CLINICAL GENETICS

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

(2011) Wanyang Liu et al.   PLoS One

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology

(2010) Dongwan Hong et al.   NUCLEIC ACIDS RESEARCH

Diagnosis and new treatments in genetic neuropathies

(2009) M M Reilly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

(2009) Davide Pareyson et al.   LANCET NEUROLOGY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA