SÖZLÜ SUNUM PROGRAMI

Sıra No Bildiri No	Başlık/Sunumu Yapacak Kişi
1 SS60	Regulation of miRNA in high fat diet induced obesity hypoventilation syndrome Sunumu Yapacak Kişi: Güzide Satır Başaran
2 SS11	Tool combination via machine learning significantly improves CNV detection success in WGSı Sunumu Yapacak Kişi: Ömer Çağrı Akçin
3 SS17	Unraveling Post-Transcriptional Regulation in Ataxia-Telangiectasia: A Systems Biology Perspective on microRNA-Target Networks Sunumu Yapacak Kişi: Altay Nida Erginkoç
4 SS21	Severe Phenotype in Lodder-Merla Syndrome Linked to Homozygous GNB5 c.863G>A Variant: A Case Report Sunumu Yapacak Kişi: İbrahim Kara
5 SS26	Effects of amniotic membrane-conditioned medium on pancreatic cancer cells Sunumu Yapacak Kişi: Ayten Altan
6 SS36	Integrated Trio Phasing from BAM Files for Enhanced Clinical and Research Applications Sunumu Yapacak Kişi: Ali Torabi
7 SS40	CD90 knock-out modulates epithelial?mesenchymal traits and enhances drug response in U-CH1 chordoma cells Sunumu Yapacak Kişi: Didem Tecimel
8 SS45	Unraveling blended phenotypes:A pediatric case with dual de novo variants in NSD1 and TAB2 Sunumu Yapacak Kişi: Sebla Kıbrıs
9 SS54	All Roads Lead to CYLD: A Familial Brooke-Spiegler Syndrome Case Sunumu Yapacak Kişi: Vedat Yüce
10 SS61	Uncovering inherited hyperlipidemia: The role of genetic testing in early diagnosis and cardiovascular risk reduction Sunumu Yapacak Kişi: Esra Çelik
11 SS42	Retrotransposon profiling at CNV breakpoints in obese patients: insights from a single-center study Sunumu Yapacak Kişi: Ali Çiçekli
12 SS69	Targeted effects of intronistat B on HIF1A and PLD2: an in silico and in vitro approach in glioblastoma cells Sunumu Yapacak Kişi: Muhammed Emin Sarı
13 SS83	A Case of CTNNB1-Related Neurodevelopmental Disorder Sunumu Yapacak Kişi: Ahmet Celal

12.06.2025, Perşembe
B salonu
Oturum Başkanları: Aslıhan Kiraz, Emine Berrin Yüksel, Elif Yılmaz Güleç, Elif Funda Şener

Sıra No Bildiri No	Başlık/Sunumu Yapacak Kişi
1 SS8	Whole genome characterization of probiotic Latilactobacillus sakei isolated from traditional Turkish pastrami: A functional genomics perspective on health-promoting bacteria Sunumu Yapacak Kişi: Neriman Löker
2 SS14	Computational Analysis of Histone Lactylation Complex Genes and their Role in the Pathogenesis of AML Sunumu Yapacak Kişi: Özlem Gökçe Ekinci
4 SS30	Utilization of RNAseq as a tool to identify the pathogenic nature of a genomic duplication in an individual with Diamond-Blackfan Anemia. Sunumu Yapacak Kişi: Gülüzar Nur
5 SS37	Expanding the Diagnostic Perspective on the 22q11.2 Critical Region: Analysis of a Case Series of Deletions and Duplications Sunumu Yapacak Kişi: Talha Laçin
6 SS41	First report of germline mosaicism in ZNF292-related intellectual disability: Expanding the clinical and molecular spectrum Sunumu Yapacak Kişi: Yusuf Can Doğan
7 SS46	A novel inframe CREBBP mutation in a cohort of three patients with Rubinstein-Taybi syndrome Sunumu Yapacak Kişi: Onur Hanoğlu
8 SS57	Detection of Intron 22 Inversion in the F8 Gene Using Oxford Nanopore Long-Read Sequencing Sunumu Yapacak Kişi: Mehmet Mert Topaloğlu
9 SS62	Prevalence and spectrum of multiple pathogenic variants identified through hereditary cancer panel testing in a cohort of 1,977 patients Sunumu Yapacak Kişi: Yaren Bağ
10 SS73	OncoSemScore: Integrative Semantic Scoring of Multigenic Co-Occurrences in Hereditary Cancer Sunumu Yapacak Kişi: Mustafa Tarik
11 SS78	Family case report of the MT-ATP6 variant highlighting variable expressivity Sunumu Yapacak Kişi: Mustafa Mert Aydın
12 SS84	A Case of Verloes Bourguignon Syndrome Diagnosed in the Infantile Period Sunumu Yapacak Kişi: Meryem Nur
13 SS93	Single-Center Experience: A Retrospective Evaluation of Prenatal Genetic Counseling and Diagnostic Approaches Between January and March 2025 Sunumu Yapacak Kişi: Beyza Adaçoğlu
14 SS99	Genealogy and ethics after advances in artificial fertilization techniques Sunumu Yapacak Kişi: Nazlı Yücesoy Polat

13.06.2025, Cuma
A salonu
Oturum Başkanları: Seda Örenay Boyacıoğlu, Recep Eröz, Tülin Çora, Zuhal Hamurcu

Sıra No Bildiri No	Başlık/Sunumu Yapacak Kişi
1 SS15	NIPT screening outcomes in Northern Cyprusı Sunumu Yapacak Kişi: Pembe Savaş
2 SS19	Prenatal diagnosis of Prader-Willi syndrome due to maternal mixed iso/hetero uniparental disomy Sunumu Yapacak Kişi: Eyyüp Üçtepe
3 SS24	Diagnostic utility of Oxford Nanopore-based whole exome sequencing in trio analysis for rare genetic disorders Sunumu Yapacak Kişi: Behich Koyutourk
4 SS33	mRNA sequencing of AMPD2 gene proving transcript length change caused by c.353+11C>T novel intronic variant Sunumu Yapacak Kişi: Alp Peker
5 SS47	ReNU Syndrome A Newly Discovered Prevalent Neurodevelopmental Disorder Sunumu Yapacak Kişi: Gökçe Koç
6 SS58	Identification of Novel Variants in the Ultra-Rare Hardikar Syndrome: A Case Report Sunumu Yapacak Kişi: Gökçen Özbek Kanat
7 SS65	A novel splicing variant in RORB in a patient with epilepsy Sunumu Yapacak Kişi: Fırat Özçelik
8 SS66	A novel variant in the COASY Gene: A case with arthrogryposis and pontocerebellar hypoplasia Sunumu Yapacak Kişi: Kerim Üzümcü
9 SS74	A case of Jackson-Weiss syndrome with FGFR1 p.(Pro252Arg) variant: expanding the phenotypic spectrum Sunumu Yapacak Kişi: Hatice Berra Şahin
10 SS81	A novel variant associated with spastic paraplegia with neurodevelopmental disorder Sunumu Yapacak Kişi: Erkinai Iusupova
11 SS88	A rare case of adult-onset neurodegeneration due to a pathogenic IRF2BPL variant Sunumu Yapacak Kişi: Abdullah Isa Bulat
12 SS94	The effect of early radiotherapy effects on A549 lung cancer stem cell population Sunumu Yapacak Kişi: Merzet Aydemir
13 SS100	A RARE GENETIC CAUSE OF EARLY INFANTILE ONSET EPILEPSY: CSNK2B Sunumu Yapacak Kişi: Fatma Beyza Gider
14 SS90	Rare copy number variants of 8p23 gene region and their association with neurodevelopmental disorders Sunumu Yapacak Kişi: Hamide Betül Gerik Çelebi
15 SS23	Detection of de novo variants in CTNNB1 and NF1 genes in an infant conceived via in vitro fertilization: a case report Sunumu Yapacak Kişi: Kubra Uslu
16 SS109	A New Translocation: t(3;6)(q13.3;q27) in a Case of Recurrent Pregnancy Loss (RPL) Sunumu Yapacak Kişi: Busra Tan
1 SS17	Azoospermic male case with SRY-positive 46,XX testicular DSD Sunumu Yapacak Kişi: Nefise Kandemir

13.06.2025, Cuma
B salonu
Oturum Başkanları: Hilmi Tozkır, Sevda Yeşim Özdemir, Haydar Bağış, Müge Gülcihan Önal

Sıra No Bildiri No	Başlık/Sunumu Yapacak Kişi
1 SS9	A de novo pathogenic FOXG1 frameshift mutation associated with autosomal dominant congenital Rett Syndrome Sunumu Yapacak Kişi: Kübra Kömürcü
2 SS16	Identification of Key Genes Associated with Alzheimer's Disease through SVM-Based Classification of Cumulative Transcriptomic Data Sunumu Yapacak Kişi: Nimet Akgül
3 SS20	Chromosome 16q22 Fragility in a Male Patient with Azoospermia: A Case Reportı Sunumu Yapacak Kişi: Sahra Acır
4 SS35	SCITUNA: Single-Cell data integration tool using network alignment Sunumu Yapacak Kişi: Aissa Houdjedj
5 SS39	Cleidocranial Dysplasia Due to RUNX2 Gross Deletions: Clinical and Molecular Insights Sunumu Yapacak Kişi: Zehra Burcu
6 SS44	A Previously Unreported Occurrence of an Ultra-Rare Disease: Intragenic Homozygous Deletion in the AAAS Gene Sunumu Yapacak Kişi: Kutalp Özekicioğlu
7 SS50	Angelman syndrome: the intersection of genetic mechanisms and neurological phenotype Sunumu Yapacak Kişi: Fikriye İrem Akbolat Sakar
8 SS59	Coffin-Siris syndrome with clinical and genetic features: case series Sunumu Yapacak Kişi: Esra Hilal
9 SS64	A case suspected of KBG syndrome, a novel pathogenic variant detected in SETD5 Sunumu Yapacak Kişi: Çekdar Kapazan
10 SS72	Homozygous Null Variation in the KIFBP gene: A rare case of Goldberg-Shprintzen Syndrome Sunumu Yapacak Kişi: Betül Okur Altındaş
11 SS75	A case of 3M syndrome type 2 with a homozygous pathogenic OBSL1 variant: clinical and genetic findings Sunumu Yapacak Kişi: Zeynep Hande Kayasar
12 SS82	Frank-Ter Haar Syndrome: An uncommon diagnosis revealed by sequencing Sunumu Yapacak Kişi: Tuğba Deniz
13 SS89	KBG Syndrome: A Rare Neurodevelopmental Disorder Characterized by ANKRD11 Loss-of-Function Variants Sunumu Yapacak Kişi: Pınar Şahin
14 SS95	Analysis of miRNA Expression Profile by Small RNA Sequencing in Schizophrenia Patients Sunumu Yapacak Kişi: Onur Tonk
15 SS98	A novel NF1 gene variant identified in a Turkish family with neurofibromatosis type 1 Sunumu Yapacak Kişi: Abdulbaki Oguz