Ayça AYKUT

Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalı

Research areas: Health Sciences, Medicine, Internal Medicine Sciences, Medical Genetics, Child Health and Diseases, Natural Sciences, Life Sciences, Internal Diseases, Pediatric Immunology and Allergy, Fundamental Medical Sciences

Publications

Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes (2026)
Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results (2026)
Low IgM Levels in Adult IEI: Classification Challenges and Clinical Implications (2026)
The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study (2026)
Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9 (2026)
Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project (2026)
Family Tree Mapping of Genetic and Phenotypic Codes of Hereditary Angioedema (2026)
Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort (2026)
Beyond Type 1 Diabetes: Clinical and Genetic Clues to Glucokinase Maturity-Onset Diabetes of the Young in Children (2026)
Next generation sequencing in children with isolated congenital cataract (2025)
Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders (2025)
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia (2025)
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia (2025)
Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data (2025)
Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study (2025)
O-17 FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND PRIMARY HYPERPARATHYROIDISM: A CASE REPORT OF AN UNUSUAL ASSOCIATION (2025)
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study (2025)
CARD9 Mutations in Patients with Invasive Fungal Infections (2025)
Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications (2025)
A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature (2025)
Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights (2025)
How narrow is narrow QRS in premature ventricular contractions? A novel variant of SCN5A-associated MEPPC (2025)
Application of the North American Familial Chylomicronemia Syndrome Score (NAFCS Score) in monogenic hypertriglyceridemia patients: A single-center Turkish cohort study (2025)
Familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a case report of an unusual association and literature review (2025)
Granulomatous and Lymphocytic Interstitial Lung Disease in Hyper‐ IgM Syndrome (2025)
Genotype-specific neoplastic risk profiles in patients with VHL disease (2025)
A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature (2025)
The Role of Serum Vitamin D Levels and Vitamin D Receptor (VDR) Gene Variants on Dental Caries (2025)
Yeni Nesil Dizi Analizi ile Erken Başlangıçlı Parkinson Hastalarında (EOPD) Mutasyonların Araştırılması (2025)
Insights into skeletal involvement in adult Gaucher disease: a single-center experience (2025)
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes (2025)
Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX (2025)
Genotype–phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study (2025)
Cross‐Sectional Analysis of Metabolic Tumor Burden Detected by F‐18 FDG PET/CT and Circulating Tumor DNA in Advanced Breast Cancer (2025)
Leber’s Hereditary Optic Neuropathy from a Rare Variant, m.3700 G > A, in the MT-ND1 Gene in a Family (2025)
Bi‐Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype–Phenotype Correlations From 61 Patients (2025)
ERKEN BAŞLANGIÇLI PARKİNSON HASTALARINDA YENİ NESİL DİZİ ANALİZİ İLE MUTASYONLARIN ARAŞTIRILMASI (2024)
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants (2024)
Primary Immunodeficiency Disorders in Pediatric Intensive Care (2024)
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases (2024)
Kemik iliği yetmezliklerinin tanısı, tedavisi, prognozu ve takibinde genetik (2024)
Gen Tedavisinde etik ve yasal süreçler (2024)
The Role of Serum Vitamin D Levels and Vitamin D Receptor (VDR) Gene Variants on Dental Caries (2024)
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl (2024)
P-15 A rare case of Trichorhinophalangeal Syndrome Type I (2024)
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
İkinci Nesil Dizileme Metotları ve Platformları, Yeni Nesil Dizileme ve Klinikteki Uygulamaları (2024)
Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency (2024)
P.126: Recurrence of aa amyloidosis in kidney transplant recipients. (2024)
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience (2023)
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission (2023)
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant (2023)
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form (2023)
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey (2023)
An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant (2023)
Biallelic variants in <i>ADAMTS15</i> cause a novel form of distal arthrogryposis (vol 24, pg 2187, 2022) (2023)
Clinical Variability in a Noonan Syndrome Family with a Homozygous PTPN11 Gene Variant in Two Individuals (2023)
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases (2023)
Current Genetic Defects in Common Variable Immune Deficiency Patients on the Geography Between Europe and Asia (2023)
Expanding the spectrum of short rib thoracic dysplasia case with a novel nonsynonymous and a synonymous variant in DYNC2H1 (2023)
Primer böbrek hastalığı AA amiloidoz olan böbrek nakli hastalarında amiloidoz rekürrensi ve sağkalıma etkisi (2023)
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG (2023)
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG (2023)
A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment (2023)
Yaygın Değişken İmmün Yetmezlikte Tanımlanan Genetik Defektler (2023)
Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2023)
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience (2023)
Konjenital adrenal hiperplazi genetiği ve genetik tanı yöntemleri (2023)
Epigenetik Modifikasyonlar (2023)
A Rare Cause of Developmental Epileptic Encephalopathy: D-Bifunctional Protein Deficiency with a Novel Pathogenic Variant (2023)
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years (2022)
A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant (2022)
Investigation of nasopharyngeal microbiota in children with asthma and allergic rhinitis comorbidity (2022)
Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2022)
A Remarkable Case of Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy Syndrome (APECED) misdiagnosed as Juvenile Idiopathic Arthritis on admission (2022)
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years (2022)
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. (2022)
Clinical and molecular evaluation of <i>MEFV</i> gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
LSM1 is the new candidate gene for neurodevelopmental disorder (2022)
HIBCH MUTATIONS AS A PART FROM DIFFERENTIAL DIAGNOSIS OF LEIGH-LIKE SYNDROME (2022)
Kopya Numara Sayısı Değişikliklerinin Ekzom Sekanslama Yöntemiyle Saptanması (2022)
Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases (2022)
25-Hidroksivitamin D Düzeyleri ve VDR Gen Varyantları ile Diş Çürükleri Arasındaki İlişkinin Değerlendirilmesi (2022)
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (2022)
HETEROZİGOT FAMİLYAL HİPERKOLESTEROLEMİ EGE TIP DENEYİMİ (2022)
Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem Cells. (2022)
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants (2022)
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: A novel finding in whole exome sequencing (2021)
A Novel Homozygous TRNT1 Mutation in a Child with an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia (2021)
Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation (2021)
X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up (2021)
A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2021)
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up. (2021)
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2 ): striking clinical phenotypic overlap and difference (2021)
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)