Autosomal recessive mutations inTHOC6cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

Confirming the candidacy ofTHOC6in the etiology of intellectual disability

(2016) Shamsa Anazi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

(2015) Raman Kumar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

THOC5, a member of the mRNA export complex: a novel link between mRNA export machinery and signal transduction pathways in cell proliferation and differentiation

(2014) Doan D H Tran et al.   Cell Communication and Signaling

THOC5 controls 3′end-processing of immediate early genes via interaction with polyadenylation specific factor 100 (CPSF100)

(2014) Doan Duy Hai Tran et al.   NUCLEIC ACIDS RESEARCH

Ade novoX;8 translocation creates aPTK2-THOC2gene fusion withTHOC2expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

(2013) Eleonora Di Gregorio et al.   JOURNAL OF MEDICAL GENETICS

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

Intellectual disability associated with a homozygous missense mutation in THOC6

(2013) Chandree L Beaulieu et al.   Orphanet Journal of Rare Diseases

THOC5/FMIP, an mRNA export TREX complex protein, is essential for hematopoietic primitive cell survival in vivo

(2010) Annalisa Mancini et al.   BMC BIOLOGY