Zeynep Coban‐Akdemir

The paper develops a model to predict NMD outcomes for protein-truncating variants using RNA-seq data, achieving ~78% ROC-AUC and identifying non-canonical determinants.

The paper quantitatively analyzes NMD activity for various PTCs in the LMNA gene, revealing new positional and sequence context dependencies beyond existing binary rules.

This study identifies NMD-escape variants as a distinct class of disease-causing mutations, showing that altered C-terminal regions drive pathogenicity through phase separation.

The paper analyzes PTCs in CHD patients to identify genes and pathways contributing to an oligogenic etiology of congenital heart disease.

The paper identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

The paper identifies the amino acid preceding a premature termination codon as a key determinant of nonsense-mediated mRNA decay efficiency.

The paper reports a pathogenic inversion in UNC13D and analyzes chromosomal inversions across multiple datasets to identify their molecular characteristics and implications in genetic diseases.

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

aenmd annotates PTC-containing transcript-variant pairs for predicted NMD escape, identifying variants that may cause dominant-negative or gain-of-function effects.

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.

The paper combines exome sequencing and array-based comparative genomic hybridization to identify genetic risk factors in familial Parkinson’s disease, finding novel SNVs and CNVs.

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.