Chantal Missirian

Multi-modal refinement of the human heart atlas during the first gestational trimester

The paper refines a human heart atlas using multi-modal data from the first trimester, identifying novel cell types and spatial features in cardiac development.

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.