• A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism
• A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia
• An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation
• An ER translocon for multi-pass membrane protein biogenesis
• Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)
• Brain and spine MRI findings in children presenting with TMCO1 mutation
• C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia
• Ca²⁺ homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling
• Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature
• Cerebro-facio-thoracic dysplasia: expanding the phenotype
• Cerebro-facio-thoracic dysplasia: report of three cases
• Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1
• Cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome): presentation of two new patients
• Cerebrofaciothoracic dysplasia: a new family
• Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant
• Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
• Defining mitochondrial protein functions through deep multiomic profiling
• Expression, purification and characterization of TMCO1 for structural studies
• From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1
• Ophthalmologic findings in cerebrofaciothoracic dysplasia
• TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
• Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia
• Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia