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T. Atik · SciRah

Researcher profile · Semantic Scholar

T. Atik

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T. Atik — researcher profile on SciRah

h-index: 21
Works: 112
Citations: 1,367

Most-cited papers

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
B. Akıncı, H. Onay, T. Demir, S. Ozen +23 more
2016Journal of Clinical Endocrinology and Metabolism85 citations Open access
Semantic Scholar
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
B. Akıncı, H. Onay, T. Demir, Ş. Savaş-Erdeve +17 more
2017Metabolism: Clinical and Experimental77 citations
Semantic Scholar
Diffuse hypomyelination is not obligate for POLR3-related disorders
R. La Piana, F. Cayami, L. Tran, K. Guerrero +17 more
2016Neurology69 citations Open access
Semantic Scholar
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
T. Atik, H. Onay, A. Aykut, G. Bademci +3 more
2015PLoS ONE67 citations Open access
Semantic Scholar
Whole-exome sequencing and its impact in hereditary hearing loss
T. Atik, G. Bademci, O. Díaz-Horta, S. Blanton +1 more
2015Genetics Research53 citations Open access
Semantic Scholar
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
Aslı Ece Solmaz, H. Onay, T. Atik, A. Aykut +6 more
2015European Journal of Medical Genetics52 citations
Semantic Scholar
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
G. Bademci, F. Cengiz, J. F. Ii, D. Duman +20 more
2016Scientific Reports50 citations Open access
Semantic Scholar
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
T. Atik, A. Koparir, G. Bademci, J. Foster +12 more
2015Orphanet Journal of Rare Diseases49 citations Open access
Semantic Scholar
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
F. Pelletier, S. Perrier, F. Cayami, A. Mirchi +115 more
2020Journal of Clinical Endocrinology and Metabolism43 citations Open access
Semantic Scholar
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment
S. Özen, H. Onay, T. Atik, A. Solmaz +3 more
2016Hormone Research in Paediatrics41 citations
Semantic Scholar
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics
A. Aykut, S. Özen, D. Gökşen, Aysun Ata +4 more
2020European Journal of Pediatrics37 citations Open access
Semantic Scholar
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy
Sarenur Gokben, H. Onay, S. Yılmaz, T. Atik +3 more
2016Acta Neurologica Belgica37 citations
Semantic Scholar
Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities.
B. Akıncı, F. Koseoglu, H. Onay, S. Yavuz +13 more
2015Metabolism: Clinical and Experimental33 citations
Semantic Scholar
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism
A. Durmaz, A. Aykut, T. Atik, S. Özen +6 more
2020Journal of Clinical Research in Pediatric Endocrinology27 citations Open access
Semantic Scholar
Evaluation of the effects of miRNAs in familial Mediterranean fever
H. Hortu, E. Karaca, B. Sozeri, N. Gulez +6 more
2019Clinical Rheumatology27 citations
Semantic Scholar
Renal Complications of Lipodystrophy: a closer look at the natural history of kidney disease
B. Akıncı, S. Unlu, A. Çelik, I. Şimşir +26 more
2018Clinical Endocrinology26 citations Open access
Semantic Scholar
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4
G. Akinci, H. Topaloğlu, B. Akıncı, H. Onay +7 more
2016European Journal of Medical Genetics26 citations Open access
Semantic Scholar
Novel Pathogenic Variants Underlie SLC26A4-related Hearing Loss in a Multiethnic Cohort
F. Cengiz, R. Yılmazer, L. Olgun, L. Sennaroğlu +21 more
2017International Journal of Pediatric Otorhinolaryngology25 citations Open access
Semantic Scholar
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
C. Altay, M. Seçil, T. Demir, T. Atik +11 more
2017Diagnostic and Interventional Radiology23 citations Open access
Semantic Scholar
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
T. Atik, Esra Işık, H. Onay, B. Akgun +19 more
2020Turkish journal of haematology : official journal of Turkish Society of Haematology21 citations Open access
Semantic Scholar
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.
Esra Işık, A. Aykut, T. Atik, O. Cogulu +1 more
2019European Journal of Medical Genetics20 citations
Semantic Scholar
Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations.
A. Aykut, E. Karaca, H. Onay, D. Gökşen +12 more
2018Gene20 citations
Semantic Scholar
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
M. Kose, E. Canda, Mehtap Kağnıcı, A. Aykut +17 more
2020Molecular Genetics and Metabolism Reports18 citations Open access
Semantic Scholar
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations
F. Ozkinay, D. Emecen, M. Kose, E. Işik +6 more
2021Molecular Genetics and Metabolism Reports17 citations Open access
Semantic Scholar
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
I. Yıldırım Şimşir, B. Tuysuz, M. Ozbek, S. Tanrikulu +28 more
2023Diabetes, obesity and metabolism16 citations Open access
Semantic Scholar
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum
M. Kose, Esra Işık, A. Aykut, A. Durmaz +13 more
2021Journal of Pediatric Endocrinology & Metabolism (JPEM)15 citations
Semantic Scholar
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Memoona Ramzan, D. Duman, LéShon Hendricks, Shengru Guo +20 more
2023Journal of Human Genetics13 citations
Semantic Scholar
A rare cause of syndromic short stature: 3M syndrome in three families
Esra Işık, Duygu Arican, T. Atik, Joo Enn Ooi +6 more
2020American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
Esra Işık, H. Onay, T. Atik, E. Canda +3 more
2019European Journal of Medical Genetics12 citations
Semantic Scholar
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene
S. Özen, T. Atik, Özlem Korkmaz, H. Onay +4 more
2020Journal of Clinical Research in Pediatric Endocrinology11 citations Open access
Semantic Scholar
A further family of Stromme syndrome carrying CENPF mutation
F. Ozkinay, T. Atik, Esra Işık, Zeliha Gormez +4 more
2017American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population.
E. Karaca, H. Onay, Ş. Çetinkalp, A. Aykut +6 more
2017Diabetes & metabolic syndrome11 citations
Semantic Scholar
Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis
Sevinç Şahin Atik, A. Solmaz, Zafer Öztaş, Emine Deniz Eğrilmez +3 more
2017Turkish journal of ophthalmology11 citations Open access
Semantic Scholar
An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation
G. Çatlı, C. Alparslan, P. S. Can, S. Akbay +4 more
2015Journal of Clinical Research in Pediatric Endocrinology11 citations Open access
Semantic Scholar
Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations.
Esra Işık, H. Onay, T. Atik, B. Akgun +2 more
2018Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)10 citations
Semantic Scholar
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations
T. Atik, A. Aykut, F. Hazan, H. Onay +4 more
2016Indian Journal of Pediatrics10 citations
Semantic Scholar
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
T. Atik, Miray Karakoyun, M. Sukalo, M. Zenker +2 more
2015Gene10 citations
Semantic Scholar
A new patient with LACHT syndrome (Mardini–Nyhan association)
T. Atik, H. Torun, O. Cogulu, F. Ozkinay
2015American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder
N. Ozbaran, Senay Celenay Ozyasar, Nurhak Doğan, H. Y. Kafali +5 more
2022Clinical Child Psychology and Psychiatry9 citations
Semantic Scholar
Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
Aslı Ece Solmaz, Esra Işık, T. Atik, F. Ozkinay +1 more
2021Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)9 citations
Semantic Scholar
Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations
Mehmet Bilal Aracı, B. Akgun, T. Atik, Esra Işık +3 more
2021Annals of Clinical Biochemistry9 citations
Semantic Scholar
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application
T. Atik, Enise Avcı Durmuşalioğlu, Esra Işık, M. Kose +5 more
2024BMC Medical Genomics8 citations Open access
Semantic Scholar
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies
Esra Işık, S. Yılmaz, T. Atik, G. Aktan +3 more
2020Neurological Sciences8 citations
Semantic Scholar
Pelvis magnetic resonance imaging to diagnose familial partial lipodystrophy.
S. C. Adiyaman, C. Altay, Berfu Y Kamisli, E. Avci +6 more
2023Journal of Clinical Endocrinology and Metabolism7 citations Open access
Semantic Scholar
LSM1 is the new candidate gene for neurodevelopmental disorder.
Gizem Kok Kilic, Esra Işık, Omer Alpay, T. Atik +4 more
2022European Journal of Medical Genetics7 citations
Semantic Scholar
Mannose binding lectin codon 54 polymorphism and susceptibility to recurrent respiratory tract infections in children: A meta-analysis.
Ozlem Atan, A. Kucukcelebi, T. Atik, F. Ozkinay
2016International Journal of Pediatric Otorhinolaryngology7 citations
Semantic Scholar
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
Esra Işık, H. Onay, T. Atik, A. Solmaz +4 more
2020Journal of Clinical Research in Pediatric Endocrinology6 citations Open access
Semantic Scholar
The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly.
Esra Işık, T. Atik, F. Ozkinay
2019Clinical Dysmorphology6 citations
Semantic Scholar
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N).
N. Kutbay, B. Yurekli, H. Onay, C. Altay +4 more
2016European journal of internal medicine6 citations
Semantic Scholar
A rare sex chromosome aneuploidy: 48,XXYY syndrome.
T. Atik, Ö. Çoğulu, F. Özkinay
2016Türk pediatri arşivi6 citations Open access
Semantic Scholar

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