Alexis Lucattini

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Jafar S. Jabbari, V. Mootha, Y. Okazaki, 2020, Med.

Using long-read sequencing to detect imprinted DNA methylation

Matthew E. Ritchie, A. Keniry, M. Tinning, 2018, bioRxiv.

Comprehensive characterization of single cell full-length isoforms in human and mouse with long-read sequencing

Matthew E. Ritchie, Jafar S. Jabbari, M. Ritchie, 2020, bioRxiv.

Comprehensive characterization of single-cell full-length isoforms in human and mouse with long-read sequencing

Matthew E. Ritchie, Jafar S. Jabbari, M. Ritchie, 2021, Genome Biology.

Genetic susceptibility to hydroxychloroquine retinal toxicity

I. Wicks, Alexis Lucattini, H. Mack, 2020, Ophthalmic genetics.

Using long-read sequencing to detect imprinted DNA methylation

Matthew E. Ritchie, A. Keniry, M. Tinning, 2018, bioRxiv.