Eyby Leon

5PUBLICATIONS
9CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeonatologyEpigenetics (incl. genome methylation and epigenomics)Optical technologyGene mapping
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Publications (5)

|Aug 27, 2026
Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities.

|Aug 11, 2026
A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy.

|Dec 14, 2019
TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.

Jullianne Diaz, Seth Berger, Eyby Leon

|Nov 07, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

Eyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya

|Jul 19, 2019
MAP1B related syndrome: Case presentation and review of literature.

Diana M Julca, Jullianne Diaz, Seth Berger

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Frequent Collaborators

1 joint publications

Keisha Wolfe

1 joint publications

Laura Armstrong

1 joint publications

Caroline Wambach

1 joint publications

Katelinn Ohrtman