A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119

(2012) Shehab A Ismail et al.   EMBO JOURNAL

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

(2012) M. C. Humbert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish

(2012) Na Luo et al.   VISION RESEARCH

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

(2011) K. J. Wright et al.   GENES & DEVELOPMENT

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo

(2011) Shehab A Ismail et al.   Nature Chemical Biology

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS