Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

(2018) Zakia Abdelhamed et al.   DEVELOPMENT

Prolonged in vivo functional assessment of the mouse oviduct using optical coherence tomography through a dorsal imaging window

(2018) Shang Wang et al.   Journal of Biophotonics

Ex vivo visualization of human ciliated epithelium and quantitative analysis of induced flow dynamics by using optical coherence tomography

(2017) Yuye Ling et al.   LASERS IN SURGERY AND MEDICINE

Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography

(2017) Engin Deniz et al.   Scientific Reports

The Genetic Basis of Hydrocephalus

(2016) Maria Kousi et al.   Annual Review of Neuroscience

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

(2016) R. Jaron et al.   CLINICAL GENETICS

Expansion of phenotype and genotypic data in CRB2-related syndrome

(2016) Ryan E Lamont et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hydrocephalus in children

(2016) Kristopher T Kahle et al.   LANCET

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

(2016) Monkol Lek et al.   NATURE

Cilia-based flow network in the brain ventricles

(2016) R. Faubel et al.   SCIENCE

c21orf59/kurly Controls Both Cilia Motility and Polarization

(2016) Kimberly M. Jaffe et al.   Cell Reports

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

(2016) Andrew T Timberlake et al.   eLife

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

(2015) Anne Slavotinek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus

(2015) Dipankan Bhattacharya et al.   DEVELOPMENTAL BIOLOGY

An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium “Opportunities for Hydrocephalus Research: Pathways to Better Outcomes”

(2015) James P. McAllister et al.   JOURNAL OF NEUROSURGERY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Three-dimensional, three-vector-component velocimetry of cilia-driven fluid flow using correlation-based approaches in optical coherence tomography

(2015) Brendan K. Huang et al.   Biomedical Optics Express

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

A Bayesian framework for de novo mutation calling in parents-offspring trios

(2014) Qiang Wei et al.   BIOINFORMATICS

Flow induced by ependymal cilia dominates near-wall cerebrospinal fluid dynamics in the lateral ventricles

(2014) B. Siyahhan et al.   Journal of the Royal Society Interface

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

(2014) Shai Carmi et al.   Nature Communications

Riding the wave of ependymal cilia: Genetic susceptibility to hydrocephalus in primary ciliary dyskinesia

(2013) Lance Lee   JOURNAL OF NEUROSCIENCE RESEARCH

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

(2012) Stephan J. Sanders et al.   NATURE

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Endogenous contrast blood flow imaging in embryonic hearts using hemoglobin contrast subtraction angiography

(2012) Engin Deniz et al.   OPTICS LETTERS

Optical coherence tomography: from research to practice

(2012) J. L. Gutierrez-Chico et al.   European Heart Journal-Cardiovascular Imaging

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

(2011) Ji E Lee et al.   CURRENT OPINION IN NEUROLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Congenital Hydrocephalus in Genetically Engineered Mice

(2011) P. Vogel et al.   VETERINARY PATHOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Imaging fluid flow and cilia beating pattern in Xenopus brain ventricles

(2010) Frank Miskevich   JOURNAL OF NEUROSCIENCE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Ependymal cells: biology and pathology

(2009) Marc R. Del Bigio   ACTA NEUROPATHOLOGICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Foxj1 transcription factors are master regulators of the motile ciliogenic program

(2008) Xianwen Yu et al.   NATURE GENETICS

The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos

(2008) Jennifer L Stubbs et al.   NATURE GENETICS