Bilimsel çalışmalar

Doç. Dr. Özlem Akgün Doğan

68 yayın. Her yayının yanında bilginin kaynağı yazar.

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  1. New genotype-phenotype correlations and management recommendations for individuals with RERE variants

    Genetics in Medicine, 2026

    DOI 10.1016/j.gim.2026.102580 PMID 41988794 1 atıf (Europe PMC) Kaynak: OpenAlex

  2. Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches

    Frontiers in Neurology, 2026

    DOI 10.3389/fneur.2026.1742186 PMID 41835067 Açık erişimli tam metinKaynak: OpenAlex

  3. Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report

    Journal of Child Neurology, 2026

    DOI 10.1177/08830738261422860 PMID 41834381 Kaynak: OpenAlex

  4. 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, 2026

    DOI 10.1186/s12909-026-09158-y PMID 41963928 Açık erişimli tam metinKaynak: OpenAlex

  5. Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 Patients

    Research Square, 2026

    DOI 10.21203/rs.3.rs-8842818/v1 Açık erişimli tam metinKaynak: OpenAlex

  6. Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

    Genome Medicine, 2026

    DOI 10.1186/s13073-026-01667-1 PMID 42116163 Açık erişimli tam metinKaynak: OpenAlex

  7. Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

    Open Access CRIS of the University of Bern, 2026

    DOI 10.48620/97667 Kaynak: OpenAlex

  8. Additional file 1 of Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome

    Figshare, 2026

    DOI 10.6084/m9.figshare.32444777 Kaynak: OpenAlex

  9. Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

    Figshare, 2026

    DOI 10.6084/m9.figshare.32904645 Kaynak: OpenAlex

  10. Perineal dysmorphism and patellar luxation in SLC35A2-CDG: a new piece in the glycosylation puzzle

    The Turkish Journal of Pediatrics, 2026

    DOI 10.24953/turkjpediatr.2026.8349 Kaynak: OpenAlex

  11. Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience

    Frontiers in Pediatrics, 2025

    DOI 10.3389/fped.2025.1471965 PMID 40083435 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  12. Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation

    Pediatric Nephrology, 2025

    DOI 10.1007/s00467-025-06682-9 PMID 39869206 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  13. Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia

    International Journal of Molecular Sciences, 2025

    DOI 10.3390/ijms26188838 PMID 41009407 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  14. Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition

    Frontiers in Genetics, 2025

    DOI 10.3389/fgene.2025.1624306 PMID 40995433 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  15. Abstract Wed103: A Novel Variant in GNB2 as a Cause of Sick Sinus Syndrome

    Circulation Research, 2025

    DOI 10.1161/res.137.suppl_1.wed103 Kaynak: OpenAlex

  16. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

    Frontiers in Pediatrics, 2024

    DOI 10.3389/fped.2024.1412880 PMID 39026936 8 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  17. Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

    American Journal of Medical Genetics Part A, 2024

    DOI 10.1002/ajmg.a.63533 PMID 38234231 8 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  18. 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, 2024

    DOI 10.3389/fgene.2024.1347474 PMID 38560291 7 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  19. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

    Nature Genetics, 2024

    DOI 10.1038/s41588-024-01941-1 PMID 39433890 6 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  20. Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

    Journal of Clinical Research in Pediatric Endocrinology, 2024

    DOI 10.4274/jcrpe.galenos.2023.2023-7-1 PMID 38212959 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  21. Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

    Frontiers in Pediatrics, 2024

    DOI 10.3389/fped.2024.1357365 PMID 38464892 Açık erişimli tam metinKaynak: OpenAlex

  22. A New Era in Missense Variant Analysis: Statistical Insights and the Introduction of VAMPP-Score for Pathogenicity Assessment

    bioRxiv (Cold Spring Harbor Laboratory), 2024

    DOI 10.1101/2024.07.11.602867 Açık erişimli tam metinKaynak: OpenAlex

  23. Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

    Diabetes Obesity and Metabolism, 2023

    DOI 10.1111/dom.15061 PMID 36946378 20 atıf (Europe PMC) Kaynak: OpenAlex

  24. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

    Genes, 2023

    DOI 10.3390/genes14061179 PMID 37372360 12 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  25. Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

    Frontiers in Public Health, 2023

    DOI 10.3389/fpubh.2022.1049349 PMID 36684907 8 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  26. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

    Kidney International, 2023

    DOI 10.1016/j.kint.2023.11.032 PMID 36993625 10 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  27. Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus

    Journal of Clinical Research in Pediatric Endocrinology, 2023

    DOI 10.4274/jcrpe.galenos.2023.2022-11-22 PMID 36815512 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  28. A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract ( CAKUT )

    Clinical Genetics, 2023

    DOI 10.1111/cge.14406 PMID 37468454 4 atıf (Europe PMC) Kaynak: OpenAlex

  29. Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant

    European Journal of Human Genetics, 2023

    DOI 10.1038/s41431-023-01472-z PMID 37789084 4 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  30. Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels

    European Journal of Human Genetics, 2022

    DOI 10.1038/s41431-022-01060-7 PMID 35132179 9 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  31. Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer

    Expert Review of Molecular Diagnostics, 2022

    DOI 10.1080/14737159.2022.2048373 PMID 35240897 3 atıf (Europe PMC) Kaynak: OpenAlex

  32. Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family

    Cancer Genetics, 2022

    DOI 10.1016/j.cancergen.2022.10.144 PMID 36368126 3 atıf (Europe PMC) Kaynak: OpenAlex

  33. Clinical Characteristics of Children with Neurodevelopmental Delay and Pathogenic Copy Number Variations in Chromosomal Microarray Analysis

    Çocuk Dergisi / Journal of Child, 2022

    DOI 10.26650/jchild.2022.1112958 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  34. Clinical findings and molecular diagnosis in children with Bardet-Biedl Syndrome in Turkey: Identification of novel variants

    Gulhane Medical Journal, 2022

    DOI 10.4274/gulhane.galenos.2021.73745 Kaynak: OpenAlex

  35. Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene

    Journal of Pediatric Endocrinology and Metabolism, 2022

    DOI 10.1515/jpem-2021-0756 PMID 35355494 Kaynak: OpenAlex

  36. Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders

    Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, 2022

    DOI 10.37989/gumussagbil.1078850 Kaynak: OpenAlex

  37. Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

    Journal of Child Neurology, 2021

    DOI 10.1177/08830738211004736 PMID 33866847 12 atıf (Europe PMC) Kaynak: OpenAlex

  38. Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient

    Molecular Syndromology, 2021

    DOI 10.1159/000517370 PMID 34899147 4 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  39. COVID-19 PCR test performance on samples stored at ambient temperature

    Journal of Virological Methods, 2021

    DOI 10.1016/j.jviromet.2021.114404 PMID 34921841 6 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  40. Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

    Molecular Syndromology, 2021

    DOI 10.1159/000513078 PMID 34012380 4 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  41. Investigation of association between ABO blood groups and COVID-19 clinical severity

    Medical Science and Discovery, 2021

    DOI 10.36472/msd.v8i12.550 Açık erişimli tam metinKaynak: OpenAlex

  42. Psychometric and Psychosocial Evaluation of Adolescents with Turner Syndrome in a Multidisiplinary Approach: A Preliminary Study

    Güncel Pediatri, 2021

    DOI 10.4274/jcp.2021.04864 Kaynak: OpenAlex

  43. Does sampling saliva increase detection of SARS-CoV-2 by RT-PCR? Comparing saliva with oro-nasopharyngeal swabs

    Journal of Virological Methods, 2020

    DOI 10.1016/j.jviromet.2020.114049 PMID 33387561 26 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  44. Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

    Clinical Rheumatology, 2020

    DOI 10.1007/s10067-020-05108-1 PMID 32458238 16 atıf (Europe PMC) Kaynak: OpenAlex

  45. Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases

    Clinical Rheumatology, 2020

    DOI 10.1007/s10067-020-05492-8 PMID 33165748 14 atıf (Europe PMC) Kaynak: OpenAlex

  46. Peters Plus syndrome: a recognizable clinical entity

    The Turkish Journal of Pediatrics, 2020

    DOI 10.24953/turkjped.2020.01.020 PMID 32253880 6 atıf (Europe PMC) Kaynak: OpenAlex

  47. H syndrome with a novel homozygous SLC29A3 mutation in two sisters

    Pediatric Dermatology, 2020

    DOI 10.1111/pde.14322 PMID 32776596 2 atıf (Europe PMC) Kaynak: OpenAlex

  48. Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

    Molecular Syndromology, 2020

    DOI 10.1159/000505141 PMID 32256300 3 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  49. Genomic Diversity of the SARS-CoV-2 in Turkey and the Impact of Virus Genome Mutations on Clinical Outcomes

    medRxiv, 2020

    DOI 10.1101/2020.12.25.20248851 Açık erişimli tam metinKaynak: OpenAlex

  50. The same mutation in a family with adenosine deaminase 2 deficiency

    Rheumatology International, 2019

    DOI 10.1007/s00296-019-04444-z PMID 31541281 13 atıf (Europe PMC) Kaynak: OpenAlex