Gozde Akgumus

Clinical utility of custom-designed NGS panel testing in pediatric tumors

Lea F. Surrey, Suzanne P. MacFarland, Fengqi Chang et al. · Genome Medicine · 2019 · 127 citations · Full text

Medicine, Oncology, Pediatrics +17

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Ahmet Okay Çağlayan, Sinan Çomu, Jacob F. Baranoski et al. · European Journal of Medical Genetics · 2014 · 88 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus et al. · JAMA Network Open · 2019 · 66 citations · Full text

Medicine, Genetics, Neurology +14

Loss of <i>Protocadherin‐12</i><scp>L</scp>eads to <scp>D</scp>iencephalic‐<scp>M</scp>esencephalic <scp>J</scp>unction <scp>D</scp>ysplasia <scp>S</scp>yndrome

Alicia Guemez‐Gamboa, Ahmet Okay Çağlayan, Valentina Stanley et al. · Annals of Neurology · 2018 · 29 citations · Full text

Medicine, Molecular Genetics, Neuroscience +7

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism

Edward J. Romasko, Elizabeth T. DeChene, Jorune Balciuniene et al. · Epilepsy Research · 2018 · 22 citations

Medicine, Genetics, Molecular Genetics +16