CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Beyond the response-High throughput behavioral analyses to link genome to phenome in Caenorhabditis elegans

(2018) T. A. McDiarmid et al.   GENES BRAIN AND BEHAVIOR

Multiplex assessment of protein variant abundance by massively parallel sequencing

(2018) Kenneth A. Matreyek et al.   NATURE GENETICS

De novo mutation inRING1with epigenetic effects on neurodevelopment

(2018) Sarah B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function

(2018) Peter Canning et al.   Cell Reports

A gene-specific T2A-GAL4 library for Drosophila

(2018) Pei-Tseng Lee et al.   eLife

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Insights into the roles of CMK-1 and OGT-1 in interstimulus interval-dependent habituation in Caenorhabditis elegans

(2018) Evan L. Ardiel et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

CRISPR/Cas9 Methodology for the Generation of Knockout Deletions in Caenorhabditis elegans

(2018) Vinci Au et al.   G3-Genes Genomes Genetics

BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method

(2017) Chae-Seok Lim et al.   GENES & DEVELOPMENT

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

A framework for exhaustively mapping functional missense variants

(2017) Jochen Weile et al.   Molecular Systems Biology

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Habituation is altered in neuropsychiatric disorders—A comprehensive review with recommendations for experimental design and analysis

(2017) Troy A. McDiarmid et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

WormBase 2017: molting into a new stage

(2017) Raymond Y N Lee et al.   NUCLEIC ACIDS RESEARCH

Expression of human Bcl-xL (Ser49) and (Ser62) mutants in Caenorhabditis elegans causes germline defects and aneuploidy

(2017) Prasamit Saurav Baruah et al.   PLoS One

Highly Efficient, Rapid and Co-CRISPR Independent Genome Editing in Caenorhabditis elegans

(2017) Harriet Prior et al.   G3-Genes Genomes Genetics

Identifying pathogenicity of human variants via paralog-based yeast complementation

(2017) Fan Yang et al.   PLoS Genetics

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

(2017) Xi Luo et al.   PLoS Genetics

CRISPR-mediated genetic interaction profiling identifies RNA binding proteins controlling metazoan fitness

(2017) Adam D Norris et al.   eLife

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs

(2016) Lauren L. Orefice et al.   CELL

CRISPR-Based Methods for Caenorhabditis elegans Genome Engineering

(2016) D. J. Dickinson et al.   GENETICS

An extended set of yeast-based functional assays accurately identifies human disease mutations

(2016) Song Sun et al.   GENOME RESEARCH

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

(2016) William A. Gahl et al.   MOLECULAR GENETICS AND METABOLISM

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

(2016) Monkol Lek et al.   NATURE

Prospective functional classification of all possible missense variants in PPARG

(2016) Amit R Majithia et al.   NATURE GENETICS

cGAL, a temperature-robust GAL4–UAS system for Caenorhabditis elegans

(2016) Han Wang et al.   NATURE METHODS

NALCN channelopathies

(2016) Eric G. Bend et al.   NEUROLOGY

Caenorhabditis elegans DAF-2 as a Model for Human Insulin Receptoropathies

(2016) David A. Bulger et al.   G3-Genes Genomes Genetics

In Vivo Modelling of ATP1A3 G316S-Induced Ataxia in C. elegans Using CRISPR/Cas9-Mediated Homologous Recombination Reveals Dominant Loss of Function Defects

(2016) Altar Sorkaç et al.   PLoS One

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The auxin-inducible degradation (AID) system enables versatile conditional protein depletion in C. elegans

(2015) L. Zhang et al.   DEVELOPMENT

Efficient Genome Editing inCaenorhabditis eleganswith a Toolkit of Dual-Marker Selection Cassettes

(2015) Adam D. Norris et al.   GENETICS

Complementation of Yeast Genes with Human Genes as an Experimental Platform for Functional Testing of Human Genetic Variants

(2015) A. Hamza et al.   GENETICS

Streamlined Genome Engineering with a Self-Excising Drug Selection Cassette

(2015) Daniel J. Dickinson et al.   GENETICS

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

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

(2015) Dominik G. Grimm et al.   HUMAN MUTATION

C. elegans as a model to study PTEN’s regulation and function

(2015) Jun Liu et al.   METHODS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

Comparison of predicted and actual consequences of missense mutations

(2015) Lisa A. Miosge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetics and genomics of psychiatric disease

(2015) D. H. Geschwind et al.   SCIENCE

Systematic humanization of yeast genes reveals conserved functions and genetic modularity

(2015) A. H. Kachroo et al.   SCIENCE

Efficient Genome Editing inCaenorhabditis eleganswith a Toolkit of Dual-Marker Selection Cassettes

(2015) Adam D. Norris et al.   GENETICS

Streamlined Genome Engineering with a Self-Excising Drug Selection Cassette

(2015) Daniel J. Dickinson et al.   GENETICS

Repurposing an endogenous degradation system for rapid and targeted depletion of C. elegans proteins

(2014) S. T. Armenti et al.   DEVELOPMENT

Saturation editing of genomic regions by multiplex homology-directed repair

(2014) Gregory M. Findlay et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Random and targeted transgene insertion in Caenorhabditis elegans using a modified Mos1 transposon

(2014) Christian Frøkjær-Jensen et al.   NATURE METHODS

Deep mutational scanning: a new style of protein science

(2014) Douglas M Fowler et al.   NATURE METHODS

Drosophila models of early onset cognitive disorders and their clinical applications

(2014) Monique van der Voet et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

The new frontier of genome engineering with CRISPR-Cas9

(2014) J. A. Doudna et al.   SCIENCE

Microhomology-mediated end-joining-dependent integration of donor DNA in cells and animals using TALENs and CRISPR/Cas9

(2014) Shota Nakade et al.   Nature Communications

Contemporary, yeast-based approaches to understanding human genetic variation

(2013) Maitreya J Dunham et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

(2013) Judith A Hobert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome Engineering of Drosophila with the CRISPR RNA-Guided Cas9 Nuclease

(2013) Scott J. Gratz et al.   GENETICS

Simultaneous Expression of Multiple Proteins Under a Single Promoter in Caenorhabditis elegans via a Versatile 2A-Based Toolkit

(2013) A. Ahier et al.   GENETICS

The million mutation project: A new approach to genetics in Caenorhabditis elegans

(2013) O. Thompson et al.   GENOME RESEARCH

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

Heritable gene targeting in the mouse and rat using a CRISPR-Cas system

(2013) Dali Li et al.   NATURE BIOTECHNOLOGY

Engineering the Caenorhabditis elegans genome using Cas9-triggered homologous recombination

(2013) Daniel J Dickinson et al.   NATURE METHODS

A database of Caenorhabditis elegans behavioral phenotypes

(2013) Eviatar Yemini et al.   NATURE METHODS

Heritable genome editing in C. elegans via a CRISPR-Cas9 system

(2013) Ari E Friedland et al.   NATURE METHODS

Genotype to phenotype: lessons from model organisms for human genetics

(2013) Ben Lehner   NATURE REVIEWS GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genome engineering in Saccharomyces cerevisiae using CRISPR-Cas systems

(2013) James E. DiCarlo et al.   NUCLEIC ACIDS RESEARCH

Insulin activates the insulin receptor to downregulate the PTEN tumour suppressor

(2013) J Liu et al.   ONCOGENE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

RNA-programmed genome editing in human cells

(2013) Martin Jinek et al.   eLife

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Improved Mos1-mediated transgenesis in C. elegans

(2012) Christian Frøkjær-Jensen et al.   NATURE METHODS

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

High-throughput behavioral analysis in C. elegans

(2011) Nicholas A Swierczek et al.   NATURE METHODS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

OrthoList: A Compendium of C. elegans Genes with Human Orthologs

(2011) Daniel D. Shaye et al.   PLoS One

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Reversal of Salt Preference Is Directed by the Insulin/PI3K and Gq/PKC Signaling in Caenorhabditis elegans

(2010) T. Adachi et al.   GENETICS

High-resolution mapping of protein sequence-function relationships

(2010) Douglas M Fowler et al.   NATURE METHODS

Visualization and genetic analysis of alternative splicing regulation in vivo using fluorescence reporters in transgenic Caenorhabditis elegans

(2010) Hidehito Kuroyanagi et al.   Nature Protocols

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Single-copy insertion of transgenes in Caenorhabditis elegans

(2008) Christian Frøkjær-Jensen et al.   NATURE GENETICS

Habituation revisited: An updated and revised description of the behavioral characteristics of habituation

(2008) Catharine H. Rankin et al.   NEUROBIOLOGY OF LEARNING AND MEMORY