Volkan Okur

6PUBLICATIONS
21CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthGene mappingEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Publications (6)

|Jul 07, 2023
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.

Thomas Hays, Rebecca Hernan, Michele Disco

|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen

|Jun 07, 2019
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.

Kirsten E Craddock, Volkan Okur, Ashley Wilson

|Apr 24, 2019
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Volkan Okur, Charles A LeDuc, Edwin Guzman

|Aug 01, 2018
Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.

Volkan Okur, Shannon Nees, Wendy K Chung

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