Lynn Pais

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Yoshihiko Saito, R. Bryson-Richardson, G. Ravenscroft, 2023, medRxiv.

Genome Sequencing for Diagnosing Rare Diseases.

A. O’Donnell-Luria, B. Weisburd, M. Singer-Berk, 2024, The New England journal of medicine.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, A. O’Donnell-Luria, 2023, medRxiv.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

L. Vissers, R. Pfundt, E. Bacchelli, 2024, American journal of human genetics.