Nehir E. Kurtas

Florence, Italy

Last Updated: 09/26/2026

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Found 13 publications

Defining a tandem repeat catalog and variation clusters for genome-wide analyses.

Defining a tandem repeat catalog and variation clusters for genome-wide analyses.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.

Journal: American journal of human genetics
Published: September 27, 2025

Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

Journal: bioRxiv : the preprint server for biology
Published: April 28, 2025

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.

Journal: Genome medicine
Published: December 11, 2024

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Journal: American journal of human genetics
Published: April 04, 2023

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Journal: Nature communications
Published: October 17, 2021

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Journal: Human genetics
Published: August 04, 2020

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

Journal: Frontiers in pediatrics
Published: November 29, 2019

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Journal: Human mutation
Published: August 21, 2018

De novo unbalanced translocations have a complex history/aetiology.

De novo unbalanced translocations have a complex history/aetiology.

Journal: Human genetics
Published: August 14, 2018

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Journal: Molecular genetics & genomic medicine
Published: July 24, 2018

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Journal: Journal of medical genetics
Published: October 23, 2017
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Last Updated: 09/26/2026