Use of zebrafish models to investigate rare human disease

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9

(2018) Sergey V Prykhozhij et al.   NUCLEIC ACIDS RESEARCH

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

(2017) Bülent Kara et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

(2017) Nicole M. Gaudelli et al.   NATURE

Increasing the genome-targeting scope and precision of base editing with engineered Cas9-cytidine deaminase fusions

(2017) Y Bill Kim et al.   NATURE BIOTECHNOLOGY

Highly efficient RNA-guided base editing in mouse embryos

(2017) Kyoungmi Kim et al.   NATURE BIOTECHNOLOGY

Programmable base editing of zebrafish genome using a modified CRISPR-Cas9 system

(2017) Yihan Zhang et al.   Nature Communications

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

(2017) Yihan Zhang et al.   PLoS Genetics

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Role of WNT10A in failure of tooth development in humans and zebrafish

(2017) Qiuping Yuan et al.   Molecular Genetics & Genomic Medicine

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

(2016) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs

(2016) Mohammad A. Mandegar et al.   Cell Stem Cell

Identification ofC12orf4as a gene for autosomal recessive intellectual disability

(2016) A.K. Philips et al.   CLINICAL GENETICS

Modeling congenital disease and inborn errors of development inDrosophila melanogaster

(2016) Matthew J. Moulton et al.   Disease Models & Mechanisms

CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling

(2016) Jiaqi Liu et al.   HUMAN GENETICS

A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa

(2016) Jinlu Zhang et al.   HUMAN GENETICS

Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease

(2016) Yvette C. Wong et al.   MOVEMENT DISORDERS

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

The 100 000 Genomes Project

(2016) Mark Peplow   BMJ-British Medical Journal

The 100 000 Genomes Project

(2016) Mark Peplow   BMJ-British Medical Journal

Homology Directed Knockin of Point Mutations in the Zebrafish tardbp and fus Genes in ALS Using the CRISPR/Cas9 System

(2016) Gary Alan Barclay Armstrong et al.   PLoS One

Precision Modulation of Neurodegenerative Disease-Related Gene Expression in Human iPSC-Derived Neurons

(2016) Sabrina Mahalia Heman-Ackah et al.   Scientific Reports

Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish

(2015) Fatma O. Kok et al.   DEVELOPMENTAL CELL

Socio-economic burden of rare diseases: A systematic review of cost of illness evidence

(2015) Aris Angelis et al.   HEALTH POLICY

Mutations in the histamineN-methyltransferase gene,HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

(2015) Abolfazl Heidari et al.   HUMAN MOLECULAR GENETICS

A human laterality disorder caused by a homozygous deleterious mutation inMMP21

(2015) Zeev Perles et al.   JOURNAL OF MEDICAL GENETICS

Rare diseases and effective treatments: are we delivering?

(2015) Lucio Luzzatto et al.   LANCET

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Genetic compensation induced by deleterious mutations but not gene knockdowns

(2015) Andrea Rossi et al.   NATURE

Precise in-frame integration of exogenous DNA mediated by CRISPR/Cas9 system in zebrafish

(2015) Yu Hisano et al.   Scientific Reports

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consanguinity and Prevalence Patterns of Inherited Disease in the UK Pakistani Community

(2014) Peter C. Corry   HUMAN HEREDITY

In vivo cell biology in zebrafish - providing insights into vertebrate development and disease

(2014) A. M. Vacaru et al.   JOURNAL OF CELL SCIENCE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

(2014) W. R. Cnossen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Defects of protein production in erythroid cells revealed in a zebrafish Diamond–Blackfan anemia model for mutation in RPS19

(2014) Y Zhang et al.   Cell Death & Disease

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

CRISPR-Mediated Modular RNA-Guided Regulation of Transcription in Eukaryotes

(2013) Luke A. Gilbert et al.   CELL

Highly efficient CRISPR/Cas9-mediated knock-in in zebrafish by homology-independent DNA repair

(2013) T. O. Auer et al.   GENOME RESEARCH

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

(2013) Eamonn Sheridan et al.   LANCET

A systematic genome-wide analysis of zebrafish protein-coding gene function

(2013) Ross N. W. Kettleborough et al.   NATURE

The zebrafish reference genome sequence and its relationship to the human genome

(2013) Kerstin Howe et al.   NATURE

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

CRISPR interference (CRISPRi) for sequence-specific control of gene expression

(2013) Matthew H Larson et al.   Nature Protocols

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish

(2013) Anna L. Chapman et al.   PLoS One

A CRISPR CASe for high-throughput silencing

(2013) Jacob Heintze et al.   Frontiers in Genetics

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway

(2012) E. M. Payne et al.   BLOOD

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Life in the Fast Lane: Mammalian Disease Models in the Genomics Era

(2012) Lukas E. Dow et al.   CELL

V-ATPases in osteoclasts: Structure, function and potential inhibitors of bone resorption

(2012) A. Qin et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Hooked! Modeling human disease in zebrafish

(2012) Cristina Santoriello et al.   JOURNAL OF CLINICAL INVESTIGATION

The Zebrafish Insertion Collection (ZInC): a web based, searchable collection of zebrafish mutations generated by DNA insertion

(2012) Gaurav K. Varshney et al.   NUCLEIC ACIDS RESEARCH

Modeling human neurodegenerative diseases in transgenic systems

(2011) Miguel A. Gama Sosa et al.   HUMAN GENETICS

Targeted gene disruption in somatic zebrafish cells using engineered TALENs

(2011) Jeffry D Sander et al.   NATURE BIOTECHNOLOGY

Human Disease Models in Drosophila melanogaster and the Role of the Fly in Therapeutic Drug Discovery

(2011) U. B. Pandey et al.   PHARMACOLOGICAL REVIEWS

Modeling human diseases in Caenorhabditis elegans

(2010) Maria Markaki et al.   Biotechnology Journal

Phenotypic analysis of images of zebrafish treated with Alzheimer's gamma-secretase inhibitors

(2010) Dilyara Arslanova et al.   BMC BIOTECHNOLOGY

Matrix metalloproteinases in osteoclasts of ontogenetic and regenerating zebrafish scales

(2010) Erik de Vrieze et al.   BONE

Notch signalling regulates left-right asymmetry through ciliary length control

(2010) S. S. Lopes et al.   DEVELOPMENT

The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation

(2010) S. Mangos et al.   Disease Models & Mechanisms

High-throughput in vivo vertebrate screening

(2010) Carlos Pardo-Martin et al.   NATURE METHODS

Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia

(2009) E. van Rooijen et al.   BLOOD

Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects

(2009) Kelly A. Smith et al.   CIRCULATION

Lessons learnt from large-scale exon re-sequencing of the X chromosome

(2009) F. L. Raymond et al.   HUMAN MOLECULAR GENETICS

Heritable targeted gene disruption in zebrafish using designed zinc-finger nucleases

(2008) Yannick Doyon et al.   NATURE BIOTECHNOLOGY

Modeling Molecular and Cellular Aspects of Human Disease Using the Nematode Caenorhabditis elegans

(2008) Gary A Silverman et al.   PEDIATRIC RESEARCH

Validation of a larval zebrafish locomotor assay for assessing the seizure liability of early-stage development drugs

(2008) Matthew J. Winter et al.   JOURNAL OF PHARMACOLOGICAL AND TOXICOLOGICAL METHODS