Doç. Dr. Özlem Akgün Doğan

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 Zitation (Europe PMC) Quelle: OpenAlex

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 Frei zugänglicher VolltextQuelle: OpenAlex

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

Journal of Child Neurology, 2026

DOI 10.1177/08830738261422860 PMID 41834381 Quelle: OpenAlex

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 Frei zugänglicher VolltextQuelle: OpenAlex

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 Frei zugänglicher VolltextQuelle: OpenAlex

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 Frei zugänglicher VolltextQuelle: OpenAlex

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 Quelle: OpenAlex

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 Quelle: OpenAlex

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 Quelle: OpenAlex

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 Quelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia

International Journal of Molecular Sciences, 2025

DOI 10.3390/ijms26188838 PMID 41009407 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Quelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Frei zugänglicher VolltextQuelle: OpenAlex

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 Frei zugänglicher VolltextQuelle: OpenAlex

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

Diabetes Obesity and Metabolism, 2023

DOI 10.1111/dom.15061 PMID 36946378 20 Zitationen (Europe PMC) Quelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Quelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Quelle: OpenAlex

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 Zitationen (Europe PMC) Quelle: OpenAlex

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 Zitation (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

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 Quelle: OpenAlex

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 Quelle: OpenAlex

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 Quelle: OpenAlex

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 Zitationen (Europe PMC) Quelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

Molecular Syndromology, 2021

DOI 10.1159/000513078 PMID 34012380 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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

Medical Science and Discovery, 2021

DOI 10.36472/msd.v8i12.550 Frei zugänglicher VolltextQuelle: OpenAlex

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 Quelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

Clinical Rheumatology, 2020

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

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 Zitationen (Europe PMC) Quelle: OpenAlex

Peters Plus syndrome: a recognizable clinical entity

The Turkish Journal of Pediatrics, 2020

DOI 10.24953/turkjped.2020.01.020 PMID 32253880 6 Zitationen (Europe PMC) Quelle: OpenAlex

H syndrome with a novel homozygous SLC29A3 mutation in two sisters

Pediatric Dermatology, 2020

DOI 10.1111/pde.14322 PMID 32776596 2 Zitationen (Europe PMC) Quelle: OpenAlex

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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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 Frei zugänglicher VolltextQuelle: OpenAlex

The same mutation in a family with adenosine deaminase 2 deficiency

Rheumatology International, 2019

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