Res. Asst. PhD TARIK DÜZENLİ | AVESİS

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Articles 6

1. Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Babazade A., Duzenli T., Mermer S., Kayhan G.

American journal of medical genetics. Part A , vol.197, no.9, 2025 (SCI-Expanded)

2. Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact

Moral K., Kayhan G., Düzenli T., Sari S., Cindoruk M., Ekmen N.

DIAGNOSTICS , vol.15, no.16, pp.1-16, 2025 (SCI-Expanded)

3. Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.

Duzenli T., Yusufova V., Cetin H., Serdaroglu E., Buyukkaragoz B., Kayhan G.

Clinical genetics , 2025 (SCI-Expanded)

4. Letter to the Editor regarding “New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant” by Yüksel Ülker et al. and “Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings” by Duzenli et al.

DÜZENLİ T., SEZER A., PERÇİN F. E.

American Journal of Medical Genetics, Part A , vol.194, no.4, 2024 (SCI-Expanded)

5. **Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene**

Duzenli T., Uysal B. S., Ulas B., Kayhan G.

OPHTHALMIC GENETICS , vol.45, no.5, pp.499-505, 2024 (SCI-Expanded) Sustainable Development

Sustainable Development

6. Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.

DÜZENLİ T., Sezer A., KAYHAN G., ARSLAN A., Percin F. E.

American journal of medical genetics. Part A , vol.191, no.8, pp.2232-2239, 2023 (SCI-Expanded)

Papers Presented at Peer-Reviewed Scientific Conferences 5

1. Clinical Significance of Gene-Specific ACMG/AMP Classification: A Single-Center Retrospective Analysis of BRCA1 and BRCA2 Variants of Uncertain Significance Using ClinGen ENIGMA Expert Panel Guideline

Bahap Y., Düzenli T., Babazade A., Vural O., Ergün M. A.

International Hereditary Cancers Congress, Antalya, Turkey, 6 - 08 February 2025, pp.93, (Summary Text)

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2. A new case of Li-Campeau syndrome: Homozygous exonic deletion of the UBR7 gene

Düzenli T., Kayhan G.

57th European Society of Human Genetics (ESHG) Conference, Berlin, Germany, 1 - 04 June 2024, pp.1069-1070, (Summary Text)

3. Ekzom Dizileme ile Tanı Alamayan Epileptik Ensefalopati Hastasında RNA Dizilemenin Tanısal Katkısı

Düzenli T., Kayhan G., Ergün M. A.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.140, (Summary Text)

4. **A new case of Li-Campeau syndrome: Homozygous exonic deletion of the UBR7 gene**

DÜZENLİ T., KAYHAN G.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Germany, 1 - 04 June 2024, vol.32, pp.1069-1070, (Summary Text)

5. A Rare and Potentially Treatable Cause of Neurodegeneration: Cerebral Folate Deficiency

Düzenli T., Demir E., Hırfanoğlu T., Kayhan G.

8. Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 21 - 23 September 2023, vol.1, pp.71-72, (Summary Text)

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Books 2

1. Epigenetik Modifikasyonlar: Cilt Epigenetiği

DÜZENLİ T., PERÇİN F. E.

in: Dermatolojide ve Kozmetolojide Genetik ve Epigenetik Gelişmeler, AKMAN AYŞE, Editor, Türkiye Klinikleri, Ankara, pp.10-16, 2024

2. Climate Change and Epigenetics

DÜZENLİ T., PERÇİN F. E.

in: Climate Change: Child and Adolescent Health and Mental Health, AKSU HATİCE, GÜRBÜZ ÖZGÜR BÖRTE, Editor, Turkiye Klinikleri, Ankara, pp.8-17, 2023