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G. Utine · SciRah

Researcher profile · Semantic Scholar

G. Utine

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G. Utine — researcher profile on SciRah

h-index: 24
Works: 215
Citations: 2,904

Most-cited papers

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
M. Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann +29 more
2021American Journal of Human Genetics58 citations Open access
Semantic Scholar
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
E. Taşkıran, B. Karaosmanoğlu, C. Koşukcu, G. Urel-Demir +5 more
2021Journal of Intellectual Disability Research29 citations
Semantic Scholar
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Hande Taylan-Şekeroğlu, G. Utine
2021Turkish journal of ophthalmology28 citations Open access
Semantic Scholar
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Tibbe Dhooge, T. Van Damme, D. Syx, L. M. Mosquera +12 more
2020Human Mutation24 citations Open access
Semantic Scholar
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, F. Taylan, P. O. Simsek-Kiper +28 more
2023Journal of Bone and Mineral Research16 citations Open access
Semantic Scholar
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Julia Brinkmann, Christina Lissewski, V. Pinna, Y. Vial +21 more
2020European Journal of Human Genetics14 citations Open access
Semantic Scholar
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Özlem Akgün-Doğan, P. O. Simsek-Kiper, E. Taşkıran, A. Schossig +3 more
2021Journal of Child Neurology11 citations
Semantic Scholar
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
Mina Hızal, Ozlem Satırer, S. E. Polat, D. Tural +11 more
2021European Journal of Pediatrics11 citations Open access
Semantic Scholar
Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism.
B. Ozsezen, N. Emiralioğlu, Alev Özön, O. Akın +12 more
2021Respiratory Medicine11 citations Open access
Semantic Scholar
Novel insights into diabetes mellitus due to DNAJC3‐defect: Evolution of neurological and endocrine phenotype in the pediatric age group
Z. A. Ozon, A. Alikaşifoğlu, N. Kandemir, B. Aydin +11 more
2020Pediatric Diabetes11 citations Open access
Semantic Scholar
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
P. O. Simsek-Kiper, P. Jacob, Priyanka Upadhyai, Z. E. Taşkıran +10 more
2022Human Mutation10 citations Open access
Semantic Scholar
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
G. Urel-Demir, P. O. Simsek-Kiper, İ. Öncel, G. Utine +2 more
2021European journal of paediatric neurology10 citations
Semantic Scholar
Peters Plus syndrome: a recognizable clinical entity.
Gizem Ürel Demir, N. G. Lafcı, Ö. Doğan, P. O. Simsek-Kiper +1 more
2020Turkish Journal of Pediatrics10 citations Open access
Semantic Scholar
The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics.
A. Düzova, Sinem Akgül, G. Utine, Y. Yıldız
2023Turkish Journal of Pediatrics9 citations Open access
Semantic Scholar
Assessing the menstrual cycle and related problems in adolescents with a Genetic Syndrome associated with Intellectual Disability.
Hande Üçler Çınar, M. P. Kızılkan, Akçahan Akalın, P. Kiper +4 more
2023Journal of Pediatric and Adolescent Gynecology9 citations
Semantic Scholar
Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.
S. Oğuz, U. Arslan, P. Kiper, M. Alikaşifoğlu +2 more
2021Journal of Intellectual Disability Research9 citations
Semantic Scholar
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis
Jing-yi Xue, P. O. Simsek-Kiper, G. Utine, Li Yan +10 more
2021Journal of Human Genetics8 citations
Semantic Scholar
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing
Naz Guleray, C. Koşukcu, Z. E. Taşkıran, P. Ö. Şimşek Kiper +5 more
2020Fetal and Pediatric Pathology8 citations
Semantic Scholar
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey
Hande Taylan-Şekeroğlu, B. Karaosmanoğlu, E. Taşkıran, P. Ö. Şimşek Kiper +4 more
2020Molecular Syndromology7 citations Open access
Semantic Scholar
Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective Study.
U. K. Akca, P. Ö. Şimşek Kiper, Gizem Ürel Demir, E. Sağ +6 more
2020European Journal of Medical Genetics7 citations Open access
Semantic Scholar
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Merve Soğukpınar, Gizem Ürel Demir, G. Utine, E. N. Gönç +2 more
2024European Journal of Pediatrics6 citations Open access
Semantic Scholar
Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks
Özge Berna Gültekin-Zaim, G. Yalcin-Cakmakli, A. I. Colpak, P. O. Simsek-Kiper +2 more
2023Movement Disorders Clinical Practice6 citations Open access
Semantic Scholar
Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions
Akçahan Akalın, P. O. Simsek-Kiper, E. Taşkıran, G. Utine +1 more
2022Molecular Syndromology6 citations Open access
Semantic Scholar
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
N. Güleray, C. Koşukcu, S. Oğuz, Gizem Ürel Demir +6 more
2021The Cleft Palate-Craniofacial Journal6 citations
Semantic Scholar
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
P. O. Simsek-Kiper, G. Urel-Demir, E. Taşkıran, U. Arslan +6 more
2020Journal of Human Genetics6 citations
Semantic Scholar
Genetic IGF1R defects: new cases expand the spectrum of clinical features
E. Gonç, Z. A. Ozon, S. Oğuz, S. Kabacam +7 more
2020Journal of Endocrinological Investigation6 citations
Semantic Scholar
Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort
Merve Süleyman, D. Çağdaş, P. Kiper, G. Utine +2 more
2025Journal of Clinical Immunology5 citations Open access
Semantic Scholar
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
Akçahan Akalın, P. O. Simsek-Kiper, E. Taşkıran, B. Karaosmanoğlu +2 more
2023American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families
Tuğba Daşar, Gizem Ürel Demir, G. Imren, G. Utine +2 more
2024American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants
G. Urel-Demir, Burak Başer, Rahşan Göçmen, P. O. Simsek-Kiper +2 more
2024Molecular Syndromology4 citations Open access
Semantic Scholar
A very rare case of a newborn with tetrasomy 9p and literature review.
Merve Süleyman, S. Oğuz, Gozdem Kaykı, H. Çelik +3 more
2022Turkish Journal of Pediatrics4 citations Open access
Semantic Scholar
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome.
Ayşe Ünal Yüksekgönül, E. Azak, Akçahan Akalın, I. Ertugrul +3 more
2022European Journal of Medical Genetics4 citations
Semantic Scholar
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
G. Urel-Demir, B. Aydin, B. Karaosmanoğlu, Özlem Akgün-Doğan +4 more
2021Molecular Syndromology4 citations Open access
Semantic Scholar
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
Durdugul Ayyildiz-Emecen, Esra Işık, G. Utine, P. O. Simsek-Kiper +2 more
2020Molecular Syndromology4 citations Open access
Semantic Scholar
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families
Abdülkerim Kolkıran, P. O. Simsek-Kiper, Göknur Topaloğlu Yasan, B. Karaosmanoğlu +4 more
2024Molecular Syndromology3 citations Open access
Semantic Scholar
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
Sibel Öz Yıldız, D. Yalnızoğlu, P. Ö. Şimşek Kiper, Rahşan Göçmen +3 more
2023Neuropediatrics3 citations Open access
Semantic Scholar
A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type
Tuğba Daşar, S. Donkervoort, P. Ö. Şimşek Kiper, Rahşan Göçmen +4 more
2022Journal of Pediatric Research3 citations Open access
Semantic Scholar
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals
Enise Avcı Durmuşalioğlu, Esra Işık, Turkan Turkut Tan, Y. Doğan +18 more
2025American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
Tuğba Daşar, Hasibe Nesligül Gönen, K. Kösemehmetoğlu, Ö. Tekşam +3 more
2024Turkish Journal of Pediatrics2 citations Open access
Semantic Scholar
Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?
Halime Nayır Büyükşahin, N. Emiralioğlu, E. Yalçın, H. N. Ozcan +11 more
2024Journal of Paediatrics and Child Health2 citations
Semantic Scholar
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
Naz Güleray Lafcı, B. Karaosmanoğlu, E. Taşkıran, P. O. Simsek-Kiper +1 more
2023Molecular Syndromology2 citations
Semantic Scholar
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature
E. Demir, Ceyda Tuna Kırsaçlıoğlu, İ. Saltık-Temizel, G. Urel-Demir +6 more
2023Clinical Dysmorphology2 citations
Semantic Scholar
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience
A. B. Kahraman, P. O. Simsek-Kiper, G. Utine, K. Boduroğlu
2022American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.
Tuğba Daşar, P. O. Simsek-Kiper, E. Taşkıran, M. Çağan +5 more
2022European Journal of Medical Genetics2 citations Open access
Semantic Scholar
Three new cases of Crisponi /Cold Induced Sweating Syndrome (CS/CISS1) in Turkish Families.
Abdülkerim Kolkıran, G. Urel-Demir, P. O. Simsek-Kiper, G. Utine
2021European Journal of Medical Genetics2 citations
Semantic Scholar
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings
T. Soyer, B. Karaosmanoğlu, E. Taşkıran, P. Kiper +3 more
2021American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema
B. Yalıcı-Armağan, S. Kabaçam, Z. E. Taşkıran, Ö. Gököz +2 more
2020Pediatric dermatology2 citations
Semantic Scholar
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
P. O. Simsek-Kiper, S. Oğuz, F. Ergen, G. Utine +2 more
2020Neuropediatrics2 citations
Semantic Scholar
Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder
Serap Ketenci-İşlek, G. Urel-Demir, G. Utine, P. O. Simsek-Kiper
2026Neurogenetics1 citations
Semantic Scholar
Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia
Tuğba Daşar, G. Imren, A. Yıldız, Gizem Ürel Demir +3 more
2025European Journal of Pediatrics1 citations Open access
Semantic Scholar

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