Author
McGill University Health CentreORCID 0000-0001-8724-6721Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Julian Nüchel, Andrea Accogli, Steffen Lütke…·Constantinos Demetriades
This study identifies TANGO1 as a selective ECM cargo receptor that directly recognizes specific collagen and fibrillin isoforms through a conserved tyrosine residue, independent of HSP47.
Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku…·Martha R. C. Bhattacharya
The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.
Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias
This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.
Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou
The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.
Jeffrey Dennis Calhoun, Miriam C. Aziz, Hannah C. Happ…·Gemma L. Carvill
The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.