Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

(2021) Theresa Brunet et al.   CLINICAL GENETICS

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

(2021) Lindsey D. Goodman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

(2021) Thomas A. Ravenscroft et al.   GENETICS IN MEDICINE

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay

(2020) Yan Huang et al.   HUMAN MOLECULAR GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

(2020) Hyung-lok Chung et al.   NEURON

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction

(2020) Kathryn L. Post et al.   Nature Communications

Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases

(2020) Nichole Link et al.   DEVELOPMENT

Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila

(2019) Samantha L. Deal et al.   Frontiers in Genetics

Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders

(2019) Patrick F. Sullivan et al.   CELL

More Than Black or White: Melanization and Toll Share Regulatory Serine Proteases in Drosophila

(2019) Jan Paul Dudzic et al.   Cell Reports

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases

(2019) Hugo J Bellen et al.   HUMAN MOLECULAR GENETICS

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

(2019) Oguz Kanca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

(2019) Muhammad Ansar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

(2019) Hui Guo et al.   Nature Communications

The yellow gene influences Drosophila male mating success through sex comb melanization

(2019) Jonathan H Massey et al.   eLife

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

(2019) Elena Perenthaler et al.   ACTA NEUROPATHOLOGICA

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

(2018) Ning Liu et al.   HUMAN MOLECULAR GENETICS

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

(2018) Siwei Chen et al.   NATURE GENETICS

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

(2018) Atsushi Takata et al.   Cell Reports

A gene-specific T2A-GAL4 library for Drosophila

(2018) Pei-Tseng Lee et al.   eLife

IRF2BPL Is Associated with Neurological Phenotypes

(2018) Paul C. Marcogliese et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

(2018) Kimberly Splinter et al.   NEW ENGLAND JOURNAL OF MEDICINE

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

RCSB Protein Data Bank: biological macromolecular structures enabling research and education in fundamental biology, biomedicine, biotechnology and energy

(2018) Stephen K Burley et al.   NUCLEIC ACIDS RESEARCH

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function

(2017) Yan Zhang et al.   Frontiers in Molecular Neuroscience

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

(2016) Tamar Harel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

PyMOL and Inkscape Bridge the Data and the Data Visualization

(2016) Shuguang Yuan et al.   STRUCTURE

Functional annotation of rare gene aberration drivers of pancreatic cancer

(2016) Yiu Huen Tsang et al.   Nature Communications

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

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

Ion Channels in Innate and Adaptive Immunity

(2015) Stefan Feske et al.   Annual Review of Immunology

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

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

(2015) Nara Sobreira et al.   HUMAN MUTATION

Glycine receptor mechanism elucidated by electron cryo-microscopy

(2015) Juan Du et al.   NATURE

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

Gene-specific cell labeling using MiMIC transposons

(2015) Joshua P. Gnerer et al.   NUCLEIC ACIDS RESEARCH

Allosteric and hyperekplexic mutant phenotypes investigated on an α1glycine receptor transmembrane structure

(2015) Gustavo Moraga-Cid et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Plug-and-Play Genetic Access to Drosophila Cell Types using Exchangeable Exon Cassettes

(2015) Fengqiu Diao et al.   Cell Reports

A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila

(2015) Sonal Nagarkar-Jaiswal et al.   eLife

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

A suppression hierarchy among competing motor programs drives sequential grooming in Drosophila

(2014) Andrew M Seeds et al.   eLife

Influence of the White Locus on the Courtship Behavior of Drosophila Males

(2013) Dimitrije Krstic et al.   PLoS One

X chromosome inactivation in the cycle of life

(2012) T. S. Barakat et al.   DEVELOPMENT

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

JAABA: interactive machine learning for automatic annotation of animal behavior

(2012) Mayank Kabra et al.   NATURE METHODS

Crag Is a GEF for Rab11 Required for Rhodopsin Trafficking and Maintenance of Adult Photoreceptor Cells

(2012) Bo Xiong et al.   PLOS BIOLOGY

An integrative approach to ortholog prediction for disease-focused and other functional studies

(2011) Yanhui Hu et al.   BMC BIOINFORMATICS

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

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

(2011) Mark A DePristo et al.   NATURE GENETICS

MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes

(2011) Koen J T Venken et al.   NATURE METHODS

REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms

(2011) Fran Supek et al.   PLoS One

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

A New Chamber for Studying the Behavior of Drosophila

(2010) Jasper C. Simon et al.   PLoS One

The completion of the Mammalian Gene Collection (MGC)

(2009) et al.   GENOME RESEARCH

The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders

(2009) Pat Levitt et al.   JOURNAL OF CLINICAL INVESTIGATION

Faithful Expression of Multiple Proteins via 2A-Peptide Self-Processing: A Versatile and Reliable Method for Manipulating Brain Circuits

(2009) W. Tang et al.   JOURNAL OF NEUROSCIENCE

Cell-Type-Specific TEV Protease Cleavage Reveals Cohesin Functions in Drosophila Neurons

(2008) Andrea Pauli et al.   DEVELOPMENTAL CELL