Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

(2020) Muhammad Ansar et al.   HUMAN MOLECULAR GENETICS

CHOPCHOP v3: expanding the CRISPR web toolbox beyond genome editing

(2019) Kornel Labun et al.   NUCLEIC ACIDS RESEARCH

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

(2018) M. Cecilia Poli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of zebrafish Smyd1a interferes with myofibrillar integrity without triggering the misfolded myosin response

(2018) Christoph Paone et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

AnnotSV: an integrated tool for structural variations annotation

(2018) Véronique Geoffroy et al.   BIOINFORMATICS

INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family

(2018) S. Yousaf et al.   CLINICAL GENETICS

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

(2018) Véronique Geoffroy et al.   HUMAN MUTATION

The UPF1 interactome reveals interaction networks between RNA degradation and translation repression factors in Arabidopsis

(2018) Clara Chicois et al.   PLANT JOURNAL

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

(2018) Hela Azaiez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1

(2018) Kun Yang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

(2018) Raida Khalil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

(2017) Stéphanie Moortgat et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deep intronic mutations and human disease

(2017) Rita Vaz-Drago et al.   HUMAN GENETICS

Loss of αB-crystallin function in zebrafish reveals critical roles in the development of the lens and stress resistance of the heart

(2017) Sanjay Mishra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenotyping first-generation genome editing mutants: a new standard?

(2017) Lydia Teboul et al.   MAMMALIAN GENOME

Signaling and Gene Regulatory Networks in Mammalian Lens Development

(2017) Ales Cvekl et al.   TRENDS IN GENETICS

Tracking of Indels by DEcomposition is a Simple and Effective Method to Assess Efficiency of Guide RNAs in Zebrafish

(2017) Christelle Etard et al.   Zebrafish

HSF4 regulates lens fiber cell differentiation by activating p53 and its downstream regulators

(2017) Meng Gao et al.   Cell Death & Disease

TCF11/Nrf1-Mediated Induction of Proteasome Expression Prevents Cytotoxicity by Rotenone

(2016) Franziska Sotzny et al.   ANTIOXIDANTS & REDOX SIGNALING

The zebrafish eye—a paradigm for investigating human ocular genetics

(2016) R Richardson et al.   EYE

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

(2016) Monkol Lek et al.   NATURE

Structural basis for dynamic regulation of the human 26S proteasome

(2016) Shuobing Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

(2016) Corinne Stoetzel et al.   Nature Communications

Melanosomes in pigmented epithelia maintain eye lens transparency during zebrafish embryonic development

(2016) Masanari Takamiya et al.   Scientific Reports

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

(2015) Marcello Niceta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

(2015) Sophie Scheidecker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robust and exact structural variation detection with paired-end and soft-clipped alignments: SoftSV compared with eight algorithms

(2015) Christoph Bartenhagen et al.   BRIEFINGS IN BIOINFORMATICS

Otolith tethering in the zebrafish otic vesicle requires Otogelin and  -Tectorin

(2015) G. A. Stooke-Vaughan et al.   DEVELOPMENT

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

(2015) Anja Brehm et al.   JOURNAL OF CLINICAL INVESTIGATION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

VaRank: a simple and powerful tool for ranking genetic variants

(2015) Véronique Geoffroy et al.   PeerJ

CANOES: detecting rare copy number variants from whole exome sequencing data

(2014) Daniel Backenroth et al.   NUCLEIC ACIDS RESEARCH

1.15 Å resolution structure of the proteasome-assembly chaperone Nas2 PDZ domain

(2014) Chingakham R. Singh et al.   Acta Crystallographica Section F-Structural Biology Communications

Semicircular canal morphogenesis in the zebrafish inner ear requires the function of gpr126 (lauscher), an adhesion class G protein-coupled receptor gene

(2013) F.-S. Geng et al.   DEVELOPMENT

Genome-wide, whole mount in situ analysis of transcriptional regulators in zebrafish embryos

(2013) Olivier Armant et al.   DEVELOPMENTAL BIOLOGY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Kinocilia Mediate Mechanosensitivity in Developing Zebrafish Hair Cells

(2012) Katie S. Kindt et al.   DEVELOPMENTAL CELL

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

(2011) Yin Liu et al.   ARTHRITIS AND RHEUMATISM

Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28

(2011) Yanchao Han et al.   HUMAN MOLECULAR GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

(2011) K. Arima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ubiquitin proteasome system is required for cell proliferation of the lens epithelium and for differentiation of lens fiber cells in zebrafish

(2010) F. Imai et al.   DEVELOPMENT

Transcription Factor Nrf1 Mediates the Proteasome Recovery Pathway after Proteasome Inhibition in Mammalian Cells

(2010) Senthil K. Radhakrishnan et al.   MOLECULAR CELL

Proteasomal Degradation Is Transcriptionally Controlled by TCF11 via an ERAD-Dependent Feedback Loop

(2010) Janos Steffen et al.   MOLECULAR CELL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The autism susceptibility gene met regulates zebrafish cerebellar development and facial motor neuron migration

(2009) Gina E. Elsen et al.   DEVELOPMENTAL BIOLOGY

Plasma membrane calcium ATPase required for semicircular canal formation and otolith growth in the zebrafish inner ear

(2009) S. Cruz et al.   JOURNAL OF EXPERIMENTAL BIOLOGY

The proteasome: Overview of structure and functions

(2009) Keiji TANAKA   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proteasome subunit Rpn13 is a novel ubiquitin receptor

(2008) Koraljka Husnjak et al.   NATURE

Genetic dissection of neural circuits by Tol2 transposon-mediated Gal4 gene and enhancer trapping in zebrafish

(2008) K. Asakawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA