Uluç Yiş

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Arvid Suls, Johanna A. Jaehn, Angéla Kecskés et al. · The American Journal of Human Genetics · 2013 · 219 citations · Full text

Chd2 Cause, Dravet Syndrome, Molecular Neuroscience +8

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 194 citations

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

Anne Toussaint, Belinda S. Cowling, Karim Hnia et al. · Acta Neuropathologica · 2010 · 129 citations

Chromatin, Genetics, Molecular Biology +5

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş et al. · Orphanet Journal of Rare Diseases · 2011 · 105 citations · Full text