Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

A germlineMTORmutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

(2015) Gareth Baynam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Activation and Function of the mTORC1 Pathway in Mast Cells

(2014) M.-S. Kim et al.   JOURNAL OF IMMUNOLOGY

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

A Diverse Array of Cancer-Associated MTOR Mutations Are Hyperactivating and Can Predict Rapamycin Sensitivity

(2014) B. C. Grabiner et al.   Cancer Discovery

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Is a Subtype of Autism an Allergy of the Brain?

(2013) Theoharis C. Theoharides   CLINICAL THERAPEUTICS

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

(2013) G. Bradley Schaefer et al.   GENETICS IN MEDICINE

AKT activation promotes PTEN hamartoma tumor syndrome–associated cataract development

(2013) Caterina Sellitto et al.   JOURNAL OF CLINICAL INVESTIGATION

mTOR kinase structure, mechanism and regulation

(2013) Haijuan Yang et al.   NATURE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Mast Cell Chemotaxis – Chemoattractants and Signaling Pathways

(2012) Ivana Halova et al.   Frontiers in Immunology

mTORC1 and mTORC2 differentially regulate homeostasis of neoplastic and non-neoplastic human mast cells

(2011) D. Smrz et al.   BLOOD

Erythropoietin and Wnt1 Govern Pathways of mTOR, Apaf-1, and XIAP in Inflammatory Microglia

(2011) Yan Chen Shang et al.   CURRENT NEUROVASCULAR RESEARCH

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

(2010) M Al-Owain et al.   CLINICAL GENETICS

Neurotensin is increased in serum of young children with autistic disorder

(2010) Asimenia Angelidou et al.   Journal of Neuroinflammation

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

mTOR signaling: At the crossroads of plasticity, memory and disease

(2009) Charles A. Hoeffer et al.   TRENDS IN NEUROSCIENCES

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Isolation of Hyperactive Mutants of Mammalian Target of Rapamycin

(2008) Yoichiro Ohne et al.   JOURNAL OF BIOLOGICAL CHEMISTRY