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Author

Ece Sönmezler

Observed names: E. Sonmezler, E. Sönmezler, Ece Sonmezler, Sonmezler, E, Sonmezler, Ece
Observed institutions: University of Ottawa, Dokuz Eylül University, Children's Hospital of Eastern Ontario, Ottawa Hospital, Izmir Biomedicine and Genome Center, Newcastle University
ORCID: 0000-0001-8526-1477
Observed ORCID: 0000-0001-8526-1477
OpenAlex ID: A5072642001
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
2021 · Semra Hiz Kurul, Yavuz Oktay, et al. · Brain · 40
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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
2023 · Mauro Lecca, Davut Pehlivan, et al. · The American Journal of Human Genetics · 19
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
2019 · Uluç Yiş, Semra Hiz, et al. · Journal of Neuromuscular Diseases · 18
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
2020 · Yavuz Oktay, Serdal Güngör, et al. · Journal of Neuromuscular Diseases · 17
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Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease
2020 · Serdal Gungor, Yavuz Oktay, et al. · iScience · 16
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Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG
2020 · C. Paketci, P. Edem, et al. · Brain and Development · 16
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
2024 · Micol Falabella, Chiara Pizzamiglio, et al. · Brain · 14
COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children
2020 · Ahmet Yaramis, Hanns Lochmüller, et al. · Neurology Genetics · 13
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Severe neurodevelopmental disease caused by a homozygous TLK2 variant
2019 · Ana Töpf, Yavuz Oktay, et al. · European Journal of Human Genetics · 13
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Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort
2024 · Ece Sönmezler, Cristiana Stuani, et al. · Human Mutation · 2
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
2023 · Çağatay Günay, Duygu Aykol, et al. · Neuropediatrics · 2
The Rare Hackathon: An extracurricular educational event to promote rare disease awareness among students in medicine and life sciences
2025 · Begum Utz, Emine Eylul Taskin, et al. · Rare · 1
The Investigation of the Effects of a Novel Missense Mutation in Katanin-like 2 (KATNAL2) Gene on Microtubule-related Proteins in Patient Fibroblasts Using a Proteomic Approach
2022 · Ayşe Semra Hız, Ahmet Yaramış, et al. · The Anatolian Journal of General Medical Research · 1
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OPHN1-related neurodevelopmental disorders: clinical and genetic findings with novel variants
2026 · Hilmi Bolat, Hilal Aydın, et al. · Neurological Sciences
KATNAL2 dysfunction impairs microtubule dynamics and contributes to syndromic neurodevelopmental disease
2026 · Ece Sönmezler, Semra Hız Kurul, et al. · Human Molecular Genetics
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Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases
2025 · Gamze Sarıkaya Uzan, Ali Han Yaramış, et al. · International Journal of Developmental Neuroscience
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Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights
2025 · Bilgesu Ak, Mete Akısü, et al. · Bone
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
2025 · Micol Falabella, Chiara Pizzamiglio, et al. · Newcastle University ePrints (Newcastle Univesity)
Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome
2024 · Micol Falabella, Chiara Pizzamiglio, et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease
2021 · Serdal Gungor, Yavuz Oktay, et al. · Newcastle University ePrints (Newcastle Univesity)
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
2020 · Yavuz Oktay, Serdal Güngör, et al. · Newcastle University ePrints (Newcastle Univesity)
Severe neurodevelopmental disease caused by a homozygous TLK2 variant
2020 · Ana Topf, Yavuz Oktay, et al. · Newcastle University ePrints (Newcastle Univesity)
COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children
2020 · Ahmet Yaramis, Hanns Lochmüller, et al. · Newcastle University ePrints (Newcastle Univesity)
Dihydropyridine Receptor Congenital Myopathy in A Consangineous Turkish Family
2019 · Uluç Yiş, Semra Hiz, et al. · Newcastle University ePrints (Newcastle Univesity)
A novel mutation in the coiled-coil interaction domain of LAMB1 extends
2019 · Ebru Yilmaz, Ece Sönmezler, et al. · European Journal of Human Genetics
Works count: 31
Citation count: 175
H-index: 9
I10-index: 9
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