Mutations inPTRH2cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

(2014) Hao Hu et al.   HUMAN MUTATION

CDK5RAP2 Expression During Murine and Human Brain Development Correlates with Pathology in Primary Autosomal Recessive Microcephaly

(2012) Lina Issa et al.   CEREBRAL CORTEX

Reference genes in the developing murine brain and in differentiating embryonic stem cells

(2012) Nadine Kraemer et al.   NEUROLOGICAL RESEARCH

Bit-1 Mediates Integrin-dependent Cell Survival through Activation of the NFκB Pathway

(2011) Genevieve S. Griffiths et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

(2009) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein Kinase D Is a Positive Regulator of Bit1 Apoptotic Function

(2008) Hector Biliran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Impaired Adult Neurogenesis Associated with Short-Term Memory Defects in NF- B p50-Deficient Mice

(2008) S. Denis-Donini et al.   JOURNAL OF NEUROSCIENCE

Anoikis effector Bit1 negatively regulates Erk activity

(2008) R. Kairouz-Wahbe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA