Yavuz Bayram

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Phenotypic expansion illuminates multilocus pathogenic variation

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population