A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability

Defective Craniofacial Development and Brain Function in a Mouse Model for Depletion of Intracellular Inositol Synthesis

(2014) Tetsuo Ohnishi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Homozygous missense mutation inMED25segregates with syndromic intellectual disability in a large consanguineous family

(2014) Thalita Figueiredo et al.   JOURNAL OF MEDICAL GENETICS

Genetic Basis of Intellectual Disability

(2012) Jay W. Ellison et al.   Annual Review of Medicine

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

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

(2012) Pablo Cingolani et al.   FLY

Synaptic Polarity Depends on Phosphatidylinositol Signaling Regulated by myo-Inositol Monophosphatase in Caenorhabditis elegans

(2012) T. Kimata et al.   GENETICS

Humanmyo-inositol monophosphatase 2 rescues the nematode thermotaxis mutantttx-7more efficiently than IMPA1: functional and evolutionary considerations of the two mammalianmyo-inositol monophosphatase genes

(2012) Tetsuo Ohnishi et al.   JOURNAL OF NEUROCHEMISTRY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

An NGF-responsive element targets myo-inositol monophosphatase-1 mRNA to sympathetic neuron axons

(2010) Catia Andreassi et al.   NATURE NEUROSCIENCE

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Inositol polyphosphate multikinase: metabolic architect of nuclear inositides

(2007) Adam Cain Resnick   Frontiers in Bioscience-Landmark