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B. Geçkinli · SciRah

Researcher profile · Semantic Scholar

B. Geçkinli

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B. Geçkinli — researcher profile on SciRah

h-index: 11
Works: 40
Citations: 712

Most-cited papers

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
E. Karaca, T. Harel, D. Pehlivan, S. Jhangiani +60 more
2015Neuron299 citations Open access
Semantic Scholar
Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly.
Nichole Link, Hyung-Lok Chung, Angad Jolly, Marjorie A. Withers +15 more
2019Developmental Cell95 citations Open access
Semantic Scholar
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
T. Mitani, S. Işıkay, A. Gezdirici, E. Gulec +45 more
2021American Journal of Human Genetics78 citations Open access
Semantic Scholar
DNA damage is increased in lymphocytes of patients with metabolic syndrome.
A. Karaman, H. Aydin, B. Geçkinli, A. Cetinkaya +1 more
2015Mutation Research. Genetic Toxicology and Environmental Mutagenesis54 citations
Semantic Scholar
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia
D. Pehlivan, E. Karaca, H. Aydin, C. Beck +7 more
2014European Journal of Human Genetics24 citations Open access
Semantic Scholar
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
D. Dyment, A. O'Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir +70 more
2020American Journal of Medical Genetics. Part A20 citations Open access
Semantic Scholar
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
M. Dundar, U. Fahrioğlu, S. Yıldız, Burcu Bakir-Gungor +178 more
2022Functional & Integrative Genomics18 citations Open access
Semantic Scholar
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency
A. Turkyilmaz, Ceren Alavanda, E. Ateş, B. Geçkinli +8 more
2022Journal of Assisted Reproduction and Genetics15 citations Open access
Semantic Scholar
Secondary findings in 622 Turkish clinical exome sequencing data
Esra Arslan Ateş, A. Türkyılmaz, Özlem Yıldırım, Ceren Alavanda +7 more
2021Journal of Human Genetics15 citations
Semantic Scholar
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
E. Faqeih, M. Alghamdi, Marwa A Almahroos, E. Alharby +33 more
2022Genetics in Medicine13 citations Open access
Semantic Scholar
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature
A. Turkyilmaz, B. Geçkinli, Ceren Alavanda, Esra Arslan Ateş +3 more
2021Genetic Testing and Molecular Biomarkers11 citations
Semantic Scholar
Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects.
H. Aydin, R. Arısoy, A. Karaman, E. Erdogdu +4 more
2016Turkish Journal of Medical Sciences11 citations Open access
Semantic Scholar
Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population
Nilgün Duman, G. Tuncel, A. Bişgin, S. Bozdoğan +23 more
2022Journal of Medical Virology10 citations Open access
Semantic Scholar
Dysgenesis and dysfunction of pancreas and pituitary due to FOXA2 gene defects.
S. Kaygusuz, Esra Arslan Ateş, M. Vignola, B. Volkan +5 more
2021Journal of Clinical Endocrinology and Metabolism9 citations
Semantic Scholar
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia
A. Kiraz, O. Sezer, A. Alemdar, Sezin Canbek +46 more
2023Journal of Medical Virology7 citations Open access
Semantic Scholar
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature
Şenol Demir, M. O. Sevik, Ayşenur Ersoy, B. Geçkinli +2 more
2024Ophthalmic Genetics5 citations
Semantic Scholar
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.
B. Geçkinli, Ceren Alavanda, Esra Arslan Ateş, Ozlem Yildirim +1 more
2022Clinical Dysmorphology4 citations
Semantic Scholar
Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family
E. Ateş, A. Turkyilmaz, K. Delil, Ceren Alavanda +4 more
2021Molecular Syndromology4 citations Open access
Semantic Scholar
Ankle2, A Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway
Nichole Link, Hyung-Lok Chung, Angad Jolly, Marjorie A. Withers +15 more
2019bioRxiv4 citations Open access
Semantic Scholar
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
M. Serey-Gaut, M. Cortés, P. Makrythanasis, M. Suri +45 more
2023American Journal of Human Genetics3 citations Open access
Semantic Scholar
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume
Esra Arslan Ateş, M. Eltan, B. Şahin, Busra Gurpinar Tosun +6 more
2022European Journal of Endocrinology3 citations Open access
Semantic Scholar
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.
E. Kalaoğlu, A. Turkyilmaz, B. Geçkinli, Esra Arslan Ateş +2 more
2021Clinical Dysmorphology3 citations
Semantic Scholar
A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly
Esra Dirimtekin, Çekdar Kapazan, B. Yılmaz, A. M. Yanık +1 more
2025Molecular Syndromology2 citations
Semantic Scholar
Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome
Ceren Alavanda, E. Ateş, Zehra Yavaş Abalı, B. Geçkinli +2 more
2023Clinical Genetics2 citations Open access
Semantic Scholar
Genetic Characterization of Turkish Patients with Pituitary Neuroendocrine Tumors.
Ceren Alavanda, O. Sonmez, B. Geçkinli, Fatih Bayraklı +1 more
2025Turkish Neurosurgery1 citations
Semantic Scholar
Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort
Şenol Demir, B. Geçkinli, Çekdar Kapazan, A. Türkyılmaz +4 more
2025European Journal of Pediatrics1 citations
Semantic Scholar
NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population
B. Geçkinli, Gözde Girgin Özgümüş, Şenol Demir, A. Türkyılmaz +1 more
2024Güncel Pediatri1 citations Open access
Semantic Scholar
A case of Carvajal syndrome presenting with dilated cardiomyopathy.
Ş. Arıcı, F. Akalın, B. Geçkinli
2024Cardiology in the Young1 citations
Semantic Scholar
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.
A. Turkyilmaz, B. Geçkinli, Ceren Alavanda, E. Ateş +1 more
2020Clinical Dysmorphology1 citations
Semantic Scholar
Extreme ambient temperatures and seizure outcomes in children with epilepsy: insights from a survey in Turkey.
Ismail Hakki Akbeyaz, Yekta Çulpan, Şeyhmus Gavaş, Gulten Ozturk +8 more
2026Epilepsy & Behavior0 citations
Semantic Scholar
Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study.
Dilek Çelebi, Aslıhan Kiraz, Zakhiriddin Khojakulov, A. Sarilar +23 more
2026Hormone Research in Paediatrics0 citations
Semantic Scholar
Functional impact of a novel intronic TG variant in congenital goiter and thyroid dyshormonogenesis.
Zehra Yavaş Abalı, Esra Dirimtekin, M. Eltan, B. Geçkinli +4 more
2026Hormone Research in Paediatrics0 citations
Semantic Scholar
Identification of Novel Variants in the NHS in Four Turkish Patients With Nance–Horan Syndrome
Ceren Alavanda, Esra Arslan Ateş, Şenol Demir, Hamza Polat +3 more
2025American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
The First Turkish Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect and Pelvicaliectasia Caused by a Novel Homozygous Frameshift Variation in FLNB
Esra Dirimtekin, Esra Arslan Ateş, Hamza Polat, E. Almus +1 more
2025Journal of Pediatric Genetics0 citations
Semantic Scholar
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
Şenol Demir, E. Ateş, Orkun Sevik, Bengisu Sözer +4 more
2025Clinical Genetics0 citations
Semantic Scholar
OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses
Muhammet Terzioğlu, D. Türkdoğan, Emine Genç, Emel Gümüş +6 more
2024Oral Presentation0 citations Open access
Semantic Scholar
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome
B. Geçkinli, A. Turkyilmaz, Ceren Alavanda, G. Sager +3 more
2023Clinical Dysmorphology0 citations Open access
Semantic Scholar
The Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect Caused by a Homozygous Frameshift Variation in FLNB
Esra Dirimtekin, E. Ateş, Hamza Polat, E. Almus +1 more
2023Journal of Pediatric Genetics0 citations
Semantic Scholar
Germline Screening of Cancer-Related Genes in Turkish Ovarian Cancer Patients
Esra Arslan Ateş, Ceren Alavanda, B. Geçkinli, A. Güney +1 more
2022Experimed0 citations Open access
Semantic Scholar
Osteogenesis imperfecta associated with partial trisomy 20 p : Case report
A. Karaman, T. Tos, B. Geçkinli, H. Aydin
20140 citations
Semantic Scholar

Frequent co-authors

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Ceren Alavanda×13
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Ceren Alavanda — researcher profile on SciRah
Esra Arslan Ateş×13
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Esra Arslan Ateş — researcher profile on SciRah
A. Arman×12
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A. Arman — researcher profile on SciRah
H. Aydin×9
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H. Aydin — researcher profile on SciRah

×8

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E. Ateş — researcher profile on SciRah

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D. Pehlivan — researcher profile on SciRah

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J. Lupski — researcher profile on SciRah

A. Turkyilmaz×6

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A. Turkyilmaz — researcher profile on SciRah

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T. Tos — researcher profile on SciRah

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O. Sezer — researcher profile on SciRah

Şenol Demir×5

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Şenol Demir — researcher profile on SciRah

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E. Karaca — researcher profile on SciRah