4.7 Article

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Ophthalmology

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

Matthew Carrigan et al.

BRITISH JOURNAL OF OPHTHALMOLOGY (2016)

Editorial Material Pathology

The potential of whole genome NGS for infectious disease diagnosis

Marc Lecuit et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2015)

Letter Biochemical Research Methods

The I-TASSER Suite: protein structure and function prediction

Jianyi Yang et al.

NATURE METHODS (2015)

Article Biochemistry & Molecular Biology

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

Chengliang Dong et al.

HUMAN MOLECULAR GENETICS (2015)

Article Medicine, Research & Experimental

Genomic Approaches For the Discovery of Genes Mutated in Inherited Retinal Degeneration

Anna M. Siemiatkowska et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2014)

Article Genetics & Heredity

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

Hashem A. Shihab et al.

HUMAN GENOMICS (2014)

Review Genetics & Heredity

Genes and mutations causing retinitis pigmentosa

S. P. Daiger et al.

CLINICAL GENETICS (2013)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Ophthalmology

ISCEV Standard for full-field clinical electroretinography (2008 update)

M. F. Marmor et al.

DOCUMENTA OPHTHALMOLOGICA (2009)

Article Biochemistry & Molecular Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Biochemistry & Molecular Biology

R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal

Marijana Samardzija et al.

HUMAN MOLECULAR GENETICS (2008)

Article Genetics & Heredity

MYO7A mutation screening in Usher syndrome type I patients from diverse origins

T. Jaijo et al.

JOURNAL OF MEDICAL GENETICS (2007)

Review Medicine, General & Internal

Retinitis pigmentosa

Dyonne T. Hartong et al.

LANCET (2006)

Article Genetics & Heredity

Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis

Anneke I. den Hollander et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Multidisciplinary Sciences

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

KM Nishiguchi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Biochemistry & Molecular Biology

Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy

SM Chen et al.

HUMAN MOLECULAR GENETICS (2002)

Article Genetics & Heredity

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

A Maugeri et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)