Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

(2015) David A. Dyment et al.   NEUROBIOLOGY OF AGING

Synaptojanin cooperates in vivo with endophilin through an unexpected mechanism

(2015) Yongming Dong et al.   eLife

VaRank: a simple and powerful tool for ranking genetic variants

(2015) Véronique Geoffroy et al.   PeerJ

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

(2014) D.A. Dyment et al.   CLINICAL GENETICS

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation

(2014) Sujuan Jia et al.   HUMAN MOLECULAR GENETICS

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

(2014) Simone Olgiati et al.   NEUROGENETICS

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

(2013) Arvid Suls et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

(2013) Marialuisa Quadri et al.   HUMAN MUTATION

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

Spatiotemporal control of endocytosis by phosphatidylinositol-3,4-bisphosphate

(2013) York Posor et al.   NATURE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Role of dynamin, synaptojanin, and endophilin in podocyte foot processes

(2012) Keita Soda et al.   JOURNAL OF CLINICAL INVESTIGATION

Synaptic Vesicle Endocytosis

(2012) Y. Saheki et al.   Cold Spring Harbor Perspectives in Biology

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

(2012) Pablo Cingolani et al.   Frontiers in Genetics

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Recruitment of Endophilin to Clathrin-Coated Pit Necks Is Required for Efficient Vesicle Uncoating after Fission

(2011) Ira Milosevic et al.   NEURON

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mutations in Phosphoinositide Metabolizing Enzymes and Human Disease

(2009) Heather J. McCrea et al.   PHYSIOLOGY

Differential requirements for clathrin in receptor-mediated endocytosis and maintenance of synaptic vesicle pools

(2009) K. Sato et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA