Sibel Ugur Iseri

9PUBLICATIONS
35CO-AUTHORS
Psychology of ageingBehavioural neurosciencePolymerisation mechanismsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (9)

|Oct 10, 2026
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant.

|Nov 25, 2025
Missense variants in PKAN: insights from a multi-patient genetic analysis.

Melisa Kılıç, Sevcan Mercan, Banu Özen Barut

|Apr 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf

|Nov 27, 2023
Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.

Seda Susgun, Emrah Yucesan, Beyza Goncu

|Feb 28, 2023
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Seda Susgun, Yesim Kesim, Dovlat Khalilov

|Nov 13, 2022
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Sevcan Mercan, Nihan Hande Akcakaya, Baris Salman

Pageof 2

Frequent Collaborators

2 joint publications

Nihan Hande Akcakaya

2 joint publications

Seda Susgun

2 joint publications

Zuhal Yapıcı

2 joint publications

Gül Yalçın Çakmaklı