4.8 Article

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

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 Multidisciplinary Sciences

Rare and low-frequency coding variants alter human adult height

Eirini Marouli et al.

NATURE (2017)

Article Genetics & Heredity

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Anna Lindstrand et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Multidisciplinary Sciences

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

Giovanna Alfano et al.

PLOS ONE (2016)

Article Ophthalmology

Molecular basis for photoreceptor outer segment architecture

Andrew F. X. Goldberg et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2016)

Article Biotechnology & Applied Microbiology

The continuum of causality in human genetic disorders

Nicholas Katsanis

GENOME BIOLOGY (2016)

Article Multidisciplinary Sciences

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Masao Nagasaki et al.

NATURE COMMUNICATIONS (2015)

Article Medicine, Research & Experimental

Highly Penetrant Alleles in Age-Related Macular Degeneration

Anneke I. den Hollander et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2015)

Article Genetics & Heredity

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene

Kimiko Suto et al.

OPHTHALMIC GENETICS (2014)

Article Multidisciplinary Sciences

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura et al.

PLOS ONE (2014)

Review Genetics & Heredity

The Molecular Basis of Retinal Dystrophies in Pakistan

Muhammad Imran Khan et al.

Article Multidisciplinary Sciences

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Koji M. Nishiguchi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Ophthalmology

High Prevalence of Mutations in the EYS Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

Masaki Iwanami et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)

Review Medicine, General & Internal

Mechanisms of Disease: Ciliopathies

Friedhelm Hildebrandt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

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)

Review Medicine, Research & Experimental

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

Anneke I. den Hollander et al.

JOURNAL OF CLINICAL INVESTIGATION (2010)

Article Medicine, Research & Experimental

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Inga Ebermann et al.

JOURNAL OF CLINICAL INVESTIGATION (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Multidisciplinary Sciences

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Gerasimos P. Sykiotis et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Ophthalmology

The molecular basis of human retinal and vitreoretinal diseases

Wolfgang Berger et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2010)

Article Multidisciplinary Sciences

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Radoje Drmanac et al.

SCIENCE (2010)

Review Genetics & Heredity

Functional modules, mutational load and human genetic disease

Norann A. Zaghloul et al.

TRENDS IN GENETICS (2010)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Multidisciplinary Sciences

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

JL Badano et al.

NATURE (2006)

Article Genetics & Heredity

Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

S Khaliq et al.

JOURNAL OF MEDICAL GENETICS (2005)

Review Biochemistry & Molecular Biology

The oligogenic properties of Bardet-Biedl syndrome

N Katsanis

HUMAN MOLECULAR GENETICS (2004)

Article Ophthalmology

RP1 is required for the correct stacking of outer segment discs

Q Liu et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)

Review Genetics & Heredity

Beyond Mendel: An evolving view of human genetic disease transmission

JL Badano et al.

NATURE REVIEWS GENETICS (2002)

Review Biochemistry & Molecular Biology

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

C Rivolta et al.

HUMAN MOLECULAR GENETICS (2002)

Article Multidisciplinary Sciences

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

N Katsanis et al.

SCIENCE (2001)