Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Screening forMYO15Agene mutations in autosomal recessive nonsyndromic,GJB2negative Iranian deaf population

(2012) Zohreh Fattahi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2012) Byung-Ok Choi et al.   HUMAN MUTATION

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

(2011) Jarupon Fah Sathirapongsasuti et al.   BIOINFORMATICS

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss

(2011) Rasheeda Bashir et al.   European Journal of Medical Genetics

Structure of MyTH4-FERM Domains in Myosin VIIa Tail Bound to Cargo

(2011) L. Wu et al.   SCIENCE

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

(2011) Zippora Brownstein et al.   GENOME BIOLOGY

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population

(2010) F. Basak Cengiz et al.   Genetic Testing and Molecular Biomarkers

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

(2010) Dongwan Hong et al.   NUCLEIC ACIDS RESEARCH

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tablet--next generation sequence assembly visualization

(2009) I. Milne et al.   BIOINFORMATICS

Mutations in the first MyTH4 domain ofMYO15Aare a common cause of DFNB3 hearing loss

(2009) A. Eliot Shearer et al.   LARYNGOSCOPE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

GJB2,SLC26A4and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects

(2008) Yu-Fen Guo et al.   ACTA OTO-LARYNGOLOGICA

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH