A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

(2011) Hao Hu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The COG complex interacts directly with Syntaxin 6 and positively regulates endosome-to-TGN retrograde transport

(2011) Orly Laufman et al.   JOURNAL OF CELL BIOLOGY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Golgi Glycosylation and Human Inherited Diseases

(2011) H. H. Freeze et al.   Cold Spring Harbor Perspectives in Biology

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

(2010) J. Lubbehusen et al.   HUMAN MOLECULAR GENETICS

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS

Journeys through the Golgi—taking stock in a new era

(2009) Scott Emr et al.   JOURNAL OF CELL BIOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

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

Glycosylation diseases: Quo vadis?

(2008) Harry Schachter et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

COG defects, birth and rise!

(2008) François Foulquier   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE