Bülent Kara

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 526 citations · Full text

Neurological Disorder, Genetics, Network Analysis +18

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

Subclinical Vitamin D Deficiency Is Increased in Adolescent Girls Who Wear Concealing Clothing

Şükrü Hatun, Islam Omer, Filiz Çizmecioğlu et al. · Journal of Nutrition · 2005 · 165 citations

Costume Design, Fashion, Dermatology

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Çağlayan et al. · Nature Genetics · 2018 · 86 citations

Neurodegenerative Diseases, Human Ctnna2, Arp2/3 Complex Overactivity +7