ACURARE Yayınlar

• Aydin E., Bulut A. S., Yildiz B. ve ark. Periodic genetic reanalysis identifies a novel de novo NOTCH1 variant: a case report. Journal of Child Neurology, 2026 doi:10.1177/08830738261422860
• Capece G., Di Feo M. F., Melnik E. ve ark. Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders. Brain, 2026 doi:10.1093/brain/awag249
• Curtis D., Zhao X., Owen N. M. ve ark. New genotype-phenotype correlations and management recommendations for individuals with RERE variants. Genetics in Medicine, vol.28, no.6, pp.102580, 2026 doi:10.1016/j.gim.2026.102580
• Kocyigit S., Akgun-Dogan O., Hatırnaz Ng O. ve ark. Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome. BMC Medical Education, vol.26, no.1, 2026 doi:10.1186/s12909-026-09158-y
• Sarikaya Solak S., Cebeci Kahraman F., An İ. ve ark. Nail Disorders in Children With Down Syndrome: A Multicenter Study. Pediatric Dermatology, vol.43, no.4, pp.829-834, 2026 doi:10.1111/pde.70160
• Sefer A. P., Yorgun Altunbas M., Erman B. ve ark. Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures. Frontiers in Pediatrics, vol.14, pp.1810945, 2026 doi:10.3389/fped.2026.1810945
• Tibbe D., Kiel C., Ielesicheva O. ve ark. The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome. Genome Medicine, vol.18, no.1, 2026 doi:10.1186/s13073-026-01745-4
• Valtorta B., Polackova Z., Maroofian R. ve ark. Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders. Genome Medicine, vol.18, no.1, 2026 doi:10.1186/s13073-026-01667-1
• Yigit A., Akgun-Dogan O., Ozkeserli Z. ve ark. Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. Frontiers in Neurology, vol.17, pp.1742186, 2026 doi:10.3389/fneur.2026.1742186
• Sefer AP, Erman B, Baris S, Karakoc-Aydiner E; PLE Working Group; Lo B, Ozen A. Genomic Dissection of Pediatric Protein-Losing Enteropathy and Related Disorders: Clinical, Immunologic, and Therapeutic Insights. Gastroenterologyvol.170(4):821-825, . 2026,  doi: 10.1053/j.gastro.2025.10.022.

• Agaoglu N. B., Yalcın K., Unal B. ve ark. Clinical management of three JMML siblings with germline CBL variation. Cancer Genetics, vol.292-293, pp.120-123, 2025 doi:10.1016/j.cancergen.2025.02.007
• Ay B., Akgun-Dogan O., Taylan F. ve ark. Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome. American Journal of Medical Genetics. Part A, vol.197, no.12, pp.e64179, 2025 doi:10.1002/ajmg.a.64179
• Baldovino S., Sciascia S., Carta C. ve ark. A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions. Frontiers in Public Health, vol.13, pp.1510818, 2025 doi:10.3389/fpubh.2025.1510818
• Büyükgöl F., Gürdamar B., Aluçlu M. U. ve ark. Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. Scientific Reports, vol.15, no.1, pp.11682, 2025 doi:10.1038/s41598-025-94691-x
• Guven Tasbicen G., Tufan A., Savsar B. ve ark. Molecular consequences of CCN6 variants encoding WISP3 in progressive pseudorheumatoid dysplasia. International Journal of Molecular Sciences, vol.26, no.18, 2025 doi:10.3390/ijms26188838
• Hasturk B., Agbas A., Akgun-Dogan O. ve ark. Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation. Pediatric Nephrology (Berlin, Germany), vol.40, no.7, pp.2189-2192, 2025 doi:10.1007/s00467-025-06682-9
• Kava H., Akgun-Dogan O., Yesilyurt A. ve ark. Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience. Frontiers in Pediatrics, vol.13, pp.1471965, 2025 doi:10.3389/fped.2025.1471965
• Kaya Z., Belder N., Sever-Bahcekapili M. ve ark. Spreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache. Brain, vol.148, no.7, pp.2522-2536, 2025 doi:10.1093/brain/awaf015
• Lee E. H., Kim-Mcmanus O., Yang J. H. ve ark. HPDL Variant Type Correlates With Clinical Disease Onset and Severity. Annals of Clinical and Translational Neurology, vol.12, no.7, pp.1360-1367, 2025 doi:10.1002/acn3.70047
• Onder G., Ozdemir O., Taylan F. ve ark. Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition. Frontiers in Genetics, vol.16, pp.1624306, 2025 doi:10.3389/fgene.2025.1624306
• Onder G., Unal B., Ozdemir O. ve ark. Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition. Molecular Genetics and Genomics, vol.300, no.1, pp.45, 2025 doi:10.1007/s00438-025-02250-w
• Ozkose G. S., Topcu Y., Ay B. ve ark. Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis. Clinical Genetics, vol.109, no.1, pp.149-154, 2025 doi:10.1111/cge.70006
• Vedovato-Dos-Santos J. H., Tooze R. S., Sithambaram S. ve ark. BCL11B-related disease: a single phenotypic entity? European Journal of Human Genetics, vol.33, no.4, pp.451-460, 2025 doi:10.1038/s41431-025-01824-x
• Yalcin K., Alanya H., Gultekin B. ve ark. Subgroup of meningiomas involving FOS and FOSB gene fusions. Nature Communications, vol.16, no.1, pp.10532, 2025 doi:10.1038/s41467-025-65549-7
• Zhang C., Liang D., Ercan-Sencicek A. G. ve ark. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature, vol.638, no.8049, pp.172-181, 2025 doi:10.1038/s41586-024-08341-9
   

• Agaoglu N. B., Ng O. H., Zemheri I. E. ve ark. Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer. American Journal of Medical Genetics. Part A, vol.197, no.2, pp.e63897, 2024 doi:10.1002/ajmg.a.63897
• Akgun-Dogan O., Tuc Bengur E., Ay B. ve ark. Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center. Frontiers in Genetics, vol.15, pp.1347474, 2024 doi:10.3389/fgene.2024.1347474
• Aliyeva L., Beken S., Mancilar H. ve ark. ITGB4-Related pyloric atresia without epidermolysis in two siblings. European Journal of Medical Genetics, vol.72, pp.104971, 2024 doi:10.1016/j.ejmg.2024.104971
• Bilgic-Eltan S., Amirov R., Babayeva R. ve ark. Long-term immunological changes after corrective cardiac surgery. Scandinavian Journal of Immunology, vol.100, no.6, pp.e13418, 2024 doi:10.1111/sji.13418
• Delgado-Vega A. M., Cederroth H., Taylan F. ve ark. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nature Genetics, vol.56, no.11, pp.2287-2294, 2024 doi:10.1038/s41588-024-01941-1
• Guner Yilmaz B., Akgun-Dogan O., Ozdemir O. ve ark. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Frontiers in Pediatrics, vol.12, pp.1412880, 2024 doi:10.3389/fped.2024.1412880
• Kızıltan K., Özbezen Kızıltan E., Yerlikaya Oral E. ve ark. Very Early-Onset Schizophrenia with Accompanying Obsessive-Compulsive Symptoms: A Case Report of a Female with 16p13.11 Duplication. Psychiatry and Clinical Psychopharmacology, vol.34, no.4, pp.356-360, 2024 doi:10.5152/pcp.2024.24949
• Ozdemir O., Bychkovsky B. L., Unal B. ve ark. Molecular and in silico analysis of the CHEK2 gene in individuals with high risk of cancer predisposition from Türkiye. Cancers, vol.16, no.22, 2024 doi:10.3390/cancers16223876
• van der Laan L., Silva A., Kleinendorst L. ve ark. CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature. HGG Advances, vol.6, no.1, pp.100380, 2024 doi:10.1016/j.xhgg.2024.100380

• Akgun-Dogan O., Díaz-González F., de Lima Jorge A. A. ve ark. Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant. European Journal of Human Genetics, vol.32, no.10, pp.1250-1256, 2023 doi:10.1038/s41431-023-01472-z
• Aslan D., Akgun-Dogan O., Ay B. ve ark. DNAJC21-related thrombocytopenia in a young adult female. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol.193, no.2, pp.193-197, 2023 doi:10.1002/ajmg.c.32043
• Hatirnaz Ng Ö., Sahin I., Erbilgin Y. ve ark. Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results. Frontiers in Public Health, vol.10, pp.1049349, 2023 doi:10.3389/fpubh.2022.1049349
• Lazic J., Haas O. A., Özbek U. ve ark. Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey. Pediatric Blood & Cancer, vol.70, no.5, pp.e30229, 2023 doi:10.1002/pbc.30229
• Parra A., Rabin R., Pappas J. ve ark. Clinical heterogeneity and different phenotypes in patients with SETD2 variants: 18 new patients and review of the literature. Genes, vol.14, no.6, 2023 doi:10.3390/genes14061179
• Sciascia S., Roccatello D., Salvatore M. ve ark. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. Frontiers in Public Health, vol.11, pp.1248260, 2023 doi:10.3389/fpubh.2023.1248260
• Taruscio D., Salvatore M., Lumaka A. ve ark. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. Frontiers in Public Health, vol.11, pp.1079601, 2023 doi:10.3389/fpubh.2023.1079601

• Agaoglu N. B., Hatırnaz Ng Ö., Unal B. ve ark. Concurrent pathogenic variants of BRCA1, MUTYH and CHEK2 in a hereditary cancer family. Cancer Genetics, vol.268-269, pp.128-136, 2022 doi:10.1016/j.cancergen.2022.10.144
• Şentürk G., Ng Y. Y., Bilgiç Eltan S. ve ark. Determining T and B cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls. Scandinavian Journal of Immunology, vol.95, no.3, pp.e13130, 2022 doi:10.1111/sji.13130

• Hatirnaz Ng Ö., Akyoney S., Sahin I. ve ark. Mutational landscape of SARS-CoV-2 genome in Turkey and impact of mutations on spike protein structure. PLoS ONE, vol.16, no.12, pp.e0260438, 2021 doi:10.1371/journal.pone.0260438

Merkez üyelerinin tam yayın listelerine ve atıf verilerine aşağıdaki profillerden ulaşılabilir.

• Prof. Dr. Yasemin Alanay — ORCID  ·  AVESİS  ·  PubMed
• Prof. Dr. Özden Hatırnaz Ng — ORCID  ·  AVESİS  ·  PubMed
• Doç. Dr. Özlem Akgün Doğan — ORCID  ·  AVESİS  ·  PubMed
• Doç. Dr. Saygın Abalı — ORCID  ·  AVESİS  ·  PubMed
• Doç. Dr. Kaya Bilgüvar — ORCID  ·  AVESİS  ·  PubMed
• Dr. Öğr. Üyesi Özkan Özdemir — ORCID  ·  AVESİS  ·  PubMed