Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

Drosophila parabss Flies as a Screening Model for Traditional Medicine: Anticonvulsant Effects of Annona senegalensis

(2021) Samuel S. Dare et al.   Frontiers in Neurology

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

(2021) Philipp Rentzsch et al.   Genome Medicine

Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles

(2021) Tomoko Uehara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

(2021) Dustin Baldridge et al.   Orphanet Journal of Rare Diseases

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

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

(2020) Debdeep Dutta 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

The Rac-GEF Tiam1 Promotes Dendrite and Synapse Stabilization of Dentate Granule Cells and Restricts Hippocampal-Dependent Memory Functions

(2020) Jinxuan X. Cheng et al.   JOURNAL OF NEUROSCIENCE

ArhGEF37 assists Dynamin2 during Clathrin-mediated endocytosis

(2019) A. Viplav et al.   JOURNAL OF CELL SCIENCE

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

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

(2019) Julia Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single-Cell Transcriptome Atlas of the Aging Drosophila Brain

(2018) Kristofer Davie et al.   CELL

Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain

(2018) Guang Lin et al.   Cell Metabolism

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

(2018) Ning Liu et al.   HUMAN MOLECULAR GENETICS

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

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

(2018) Muhammad Ansar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

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

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Investigation of Seizure-Susceptibility in aDrosophila melanogasterModel of Human Epilepsy with Optogenetic Stimulation

(2017) Arunesh Saras et al.   GENETICS

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

A Ca2+ channel differentially regulates Clathrin-mediated and activity-dependent bulk endocytosis

(2017) Chi-Kuang Yao et al.   PLOS BIOLOGY

Investigation of Seizure-Susceptibility in aDrosophila melanogasterModel of Human Epilepsy with Optogenetic Stimulation

(2017) Arunesh Saras et al.   GENETICS

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Glial Lipid Droplets and ROS Induced by Mitochondrial Defects Promote Neurodegeneration

(2015) Lucy Liu et al.   CELL

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer 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

Actin Out: Regulation of the Synaptic Cytoskeleton

(2015) Erin F. Spence et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

The role of TORC1 in muscle development in Drosophila

(2015) Isabelle Hatfield et al.   Scientific Reports

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

A genetic toolkit for tagging intronic MiMIC containing genes

(2015) Sonal Nagarkar-Jaiswal et al.   eLife

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

(2014) Martin Kircher et al.   NATURE GENETICS

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

A versatile platform for creating a comprehensive UAS-ORFeome library in Drosophila

(2013) J. Bischof et al.   DEVELOPMENT

Rho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and disease

(2013) D R Cook et al.   ONCOGENE

Mechanical and Temperature Stressor–Induced Seizure-and-Paralysis Behaviors inDrosophilaBang-Sensitive Mutants

(2012) Martin G. Burg et al.   JOURNAL OF NEUROGENETICS

A Knock-In Model of Human Epilepsy in Drosophila Reveals a Novel Cellular Mechanism Associated with Heat-Induced Seizure

(2012) L. Sun et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Yanhui Hu et al.   BMC BIOINFORMATICS

A Novel Approach for Directing Transgene Expression in Drosophila: T2A-Gal4 In-Frame Fusion

(2011) F. Diao et al.   GENETICS

Phosphorylation of STEF/Tiam2 by protein kinase A is critical for Rac1 activation and neurite outgrowth in dibutyryl cAMP–treated PC12D cells

(2011) Akihiro Goto et al.   MOLECULAR BIOLOGY OF THE CELL

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

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

The Rac activator STEF (Tiam2) regulates cell migration by microtubule-mediated focal adhesion disassembly

(2010) Claire Rooney et al.   EMBO REPORTS

Drosophila as a Model for Epilepsy: bss Is a Gain-of-Function Mutation in the Para Sodium Channel Gene That Leads to Seizures

(2010) L. Parker et al.   GENETICS

Tiam1 as a Signaling Mediator of Nerve Growth Factor-Dependent Neurite Outgrowth

(2010) Shahrzad Shirazi Fard et al.   PLoS One

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

(2010) Alex Coventry et al.   Nature Communications

A Synaptic Vesicle-Associated Ca2+ Channel Promotes Endocytosis and Couples Exocytosis to Endocytosis

(2009) Chi-Kuang Yao et al.   CELL

Disruption of Normal Cytoskeletal Dynamics May Play a Key Role in the Pathogenesis of Epilepsy

(2009) John Gardiner et al.   NEUROSCIENTIST