Sibel Aylin Uğur İşeri

8PUBLICATIONS
31CO-AUTHORS
Behavioural neurosciencePolymerisation mechanismsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Medical devices
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Publications (8)

|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

|Jun 12, 2021
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

Garen Haryanyan, Ozkan Ozdemir, Kemal Tutkavul

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Frequent Collaborators

2 joint publications

Nihan Hande Akcakaya

2 joint publications

Seda Susgun

1 joint publications

Emrah Yucesan

1 joint publications

Yesim Kesim