RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

Establishment and analysis of conditional Rab1- and Rab5-knockout cells using the auxin-inducible degron system

(2021) Yuki Hatoyama et al.   JOURNAL OF CELL SCIENCE

Comprehensive knockout analysis of the Rab family GTPases in epithelial cells

(2019) Yuta Homma et al.   JOURNAL OF CELL BIOLOGY

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

(2019) Kathie J. Ngo et al.   HUMAN MUTATION

Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2017) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Massively parallel digital transcriptional profiling of single cells

(2017) Grace X. Y. Zheng et al.   Nature Communications

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

(2016) Monkol Lek et al.   NATURE

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

(2014) Typhaine Esteves et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

(2014) Tahir Naeem Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

(2014) Hao Hu et al.   NATURE BIOTECHNOLOGY

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

(2014) Carolina J. Jorgez et al.   PLoS One

Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances

(2014) John Fink   SEMINARS IN NEUROLOGY

Ypt1 recruits the Atg1 kinase to the preautophagosomal structure

(2013) J. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

(2012) Miroslava Hancarova et al.   GENE

Large-Scale Screening for Targeted Knockouts in the Caenorhabditis elegans Genome

(2012)   G3-Genes Genomes Genetics

Systematic Discovery of Rab GTPases with Synaptic Functions in Drosophila

(2011) Chih-Chiang Chan et al.   CURRENT BIOLOGY

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

(2010) Eva Wohlleber et al.   European Journal of Medical Genetics

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2010) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Trs85 directs a Ypt1 GEF, TRAPPIII, to the phagophore to promote autophagy

(2010) Molly A. Lynch-Day et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rab GTPases as coordinators of vesicle traffic

(2009) Harald Stenmark   NATURE REVIEWS MOLECULAR CELL BIOLOGY