4.2 Article

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Related references

Note: Only part of the references are listed.
Review Cell Biology

Cilia in hereditary cerebral anomalies

Sophie Thomas et al.

BIOLOGY OF THE CELL (2019)

Article Cell Biology

Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation

Chien-Hui Lo et al.

JOURNAL OF CELL BIOLOGY (2019)

Article Biochemistry & Molecular Biology

ClinVar: improving access to variant interpretations and supporting evidence

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Multidisciplinary Sciences

Genomic effects of population collapse in a critically endangered ironwood tree Ostrya rehderiana

Yongzhi Yang et al.

NATURE COMMUNICATIONS (2018)

Article Cell Biology

Ciliopathies

Daniela A. Braun et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2017)

Article Biochemistry & Molecular Biology

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer-Wigman et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Cell Biology

Photoreceptor Cilia and Retinal Ciliopathies

Kinga M. Bujakowska et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2017)

Article Biochemical Research Methods

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

Yongwook Choi et al.

BIOINFORMATICS (2015)

Article Genetics & Heredity

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Marion Failler et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Article Multidisciplinary Sciences

CCDC41 is required for ciliary vesicle docking to the mother centriole

Kwangsic Joo et al.

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

Article Biochemistry & Molecular Biology

SIFT web server: predicting effects of amino acid substitutions on proteins

Ngak-Leng Sim et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Neurosciences

Ciliary signaling cascades in photoreceptors

Ozge Yildiz et al.

VISION RESEARCH (2012)

Review Pediatrics

Ciliopathies: an expanding disease spectrum

Aoife M. Waters et al.

PEDIATRIC NEPHROLOGY (2011)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Otorhinolaryngology

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

RLP Santos et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2005)