Maian Roifman

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Daniele Merico, Bhooma Thiruvahindrapuram, Stephen W Scherer, 2015, Nature Communications.

Basic concepts of epigenetics.

Sanaa Choufani, Rosanna Weksberg, R. Weksberg, 2013, Fertility and sterility.

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.