A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies

SNX27 Deletion Causes Hydrocephalus by Impairing Ependymal Cell Differentiation and Ciliogenesis

(2016) Xin Wang et al.   JOURNAL OF NEUROSCIENCE

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

(2015) Rivka A. Rachel et al.   HUMAN MOLECULAR GENETICS

Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep

(2015) Gareth Banks et al.   NEUROBIOLOGY OF AGING

Developmental disruptions underlying brain abnormalities in ciliopathies

(2015) Jiami Guo et al.   Nature Communications

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

(2014) Valter Tucci et al.   JOURNAL OF CLINICAL INVESTIGATION

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

(2014) Wen F. Hu et al.   NEURON

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

(2014) Ketu Mishra-Gorur et al.   NEURON

Hippocampal and Cortical Primary Cilia Are Required for Aversive Memory in Mice

(2014) Nicolas F. Berbari et al.   PLoS One

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

(2013) Q. Zhang et al.   JOURNAL OF CELL SCIENCE

Disrupted Circadian Rhythms in a Mouse Model of Schizophrenia

(2012) Peter L. Oliver et al.   CURRENT BIOLOGY

3D Slicer as an image computing platform for the Quantitative Imaging Network

(2012) Andriy Fedorov et al.   MAGNETIC RESONANCE IMAGING

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Dendritic spine pathology in schizophrenia

(2012) J.R. Glausier et al.   NEUROSCIENCE

KATNAL1 Regulation of Sertoli Cell Microtubule Dynamics Is Essential for Spermiogenesis and Male Fertility

(2012) Lee B. Smith et al.   PLoS Genetics

Loss of Gnas Imprinting Differentially Affects REM/NREM Sleep and Cognition in Mice

(2012) Glenda Lassi et al.   PLoS Genetics

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees

(2010) Hilary Coon et al.   Molecular Autism

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

(2009) Chad R. Haldeman-Englert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Drosophila IKK-related kinase Ik2 and Katanin p60-like 1 regulate dendrite pruning of sensory neuron during metamorphosis

(2009) H.-H. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation and behavioral characterization of β-catenin forebrain-specific conditional knock-out mice

(2008) Todd D. Gould et al.   BEHAVIOURAL BRAIN RESEARCH

Ultrasonic vocalizations: A tool for behavioural phenotyping of mouse models of neurodevelopmental disorders

(2008) Maria Luisa Scattoni et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

(2008) A. S. Shah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA