Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

(2021) Susanne Kohl et al.   HUMAN MOLECULAR GENETICS

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15

(2021) Vlasta Hadalin et al.   Genes

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

(2020) Erin Zampaglione et al.   GENETICS IN MEDICINE

RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features

(2020) Xuan-Thanh-An Nguyen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates

(2020) Cécile Méjécase et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Structural basis for polyglutamate chain initiation and elongation by TTLL family enzymes

(2020) Kishore K. Mahalingan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

(2019) Jasdeep S Gill et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Genetic and clinical findings in a large cohort of Chinese patients with suspected retinitis pigmentosa

(2019) Feng-Juan Gao et al.   OPHTHALMOLOGY

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

(2019) Dror Sharon et al.   HUMAN MUTATION

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

(2018) Véronique Geoffroy et al.   HUMAN MUTATION

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

(2018) Cécile Méjécase et al.   CLINICAL GENETICS

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies

(2018) N. Patel et al.   CLINICAL GENETICS

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

(2018) Kristof Van Schil et al.   GENETICS IN MEDICINE

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

(2016) Christina M. Sloan-Heggen et al.   HUMAN GENETICS

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

(2016) Nicola Bedoni et al.   HUMAN MOLECULAR GENETICS

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused byTTLL5mutations

(2016) Xun Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Acquired color vision deficiency

(2016) Matthew P. Simunovic   SURVEY OF OPHTHALMOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

(2015) Elise Boulanger-Scemama et al.   Orphanet Journal of Rare Diseases

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

(2014) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption ofTtll5/StampGene (Tubulin Tyrosine Ligase-like Protein 5/SRC-1 and TIF2-associated Modulatory Protein Gene) in Male Mice Causes Sperm Malformation and Infertility

(2013) Geun-Shik Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

(2012) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway

(2010) Michael R. Lieber   Annual Review of Biochemistry

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

(2010) T. L. McGee et al.   JOURNAL OF MEDICAL GENETICS

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS