TBC1D7Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

Global analyses of UPF1 binding and function reveal expanded scope of nonsense-mediated mRNA decay

(2013) J. A. Hurt et al.   GENOME RESEARCH

A perspective on mammalian upstream open reading frame function

(2013) Joanna Somers et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

(2013) José-Mario Capo-Chichi et al.   JOURNAL OF MEDICAL GENETICS

TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1

(2012) Christian C. Dibble et al.   MOLECULAR CELL

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

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

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Patellar Dislocation in the United States: Role of Sex, Age, Race, and Athletic Participation

(2011) Brian Waterman et al.   Journal of Knee Surgery

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

(2008) Lars Brichta et al.   HUMAN GENETICS