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S. Başaran · SciRah

Researcher profile · Semantic Scholar

S. Başaran

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S. Başaran — researcher profile on SciRah

h-index: 23
Works: 114
Citations: 1,701

Most-cited papers

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
E. Szenker-Ravi, U. Altunoğlu, M. Leushacke, C. Bosso-Lefèvre +23 more
2018Nature163 citations Open access
Semantic Scholar
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Miriam Gordillo, Hugo Vega, A. Trainer, F. Hou +22 more
2008Human Molecular Genetics133 citations Open access
Semantic Scholar
A somatic origin of homologous Robertsonian translocations and isochromosomes.
Wendy P. Robinson, F. Bernasconi, S. Başaran, M. Yüksel-Apak +6 more
1994American Journal of Human Genetics129 citations
Semantic Scholar
Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children
I. Bilge, Hülya Kayserili, S. Emre, A. Nayır +7 more
2000Pediatric nephrology (Berlin, West)73 citations
Semantic Scholar
Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
E. Kalay, Yun Li, A. Uzumcu, O. Uyguner +24 more
2006Human Mutation71 citations
Semantic Scholar
Isochromosome 18p Results from Maternal Meiosis II Nondisjunction
D. Kotzot, Gertrud Bundscherer, F. Bernasconi, L. Brečević +8 more
1996European Journal of Human Genetics58 citations Open access
Semantic Scholar
Congenital heart disease in children with Down’s syndrome: Turkish experience of 13 years
K. Nişli, N. Öner, S. Candan, H. Kayserili +8 more
2008Acta Cardiologica55 citations
Semantic Scholar
Maternal uniparental disomy 22 has no impact on the phenotype.
A. Schinzel, S. Başaran, F. Bernasconi, B. Karaman +2 more
1994American Journal of Human Genetics52 citations
Semantic Scholar
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
D. Kotzot, Maria-Jose Martinez, G. Bagci, S. Başaran +15 more
2000Journal of Medical Genetics49 citations Open access
Semantic Scholar
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
E. Kalay, A. Uzumcu, E. Krieger, R. Çaylan +15 more
2007American Journal of Medical Genetics. Part A47 citations Open access
Semantic Scholar
Dandy-Walker Malformation: A Review of 78 Cases Diagnosed by Prenatal Sonography
R. Has, H. Ermiş, A. Yüksel, L. Ibrahimoğlu +3 more
2004Fetal Diagnosis and Therapy45 citations
Semantic Scholar
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.
P. Miny, B. Koppers, B. Dworniczak, N. Bogdanova +6 more
1995American journal of medical genetics34 citations
Semantic Scholar
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
A. Kardelen, G. Toksoy, F. Baş, Zehra Yavaş Abalı +10 more
2018Journal of Clinical Research in Pediatric Endocrinology32 citations Open access
Semantic Scholar
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
F. Baş, G. Toksoy, Berrin Ergun-Longmire, Z. Uyguner +9 more
2018Journal of Steroid Biochemistry and Molecular Biology29 citations
Semantic Scholar
A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3
O. Uyguner, H. Kayserili, Y. Li, B. Karaman +7 more
2007Clinical Genetics29 citations
Semantic Scholar
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations
H. Kayserili, U. Altunoğlu, H. Ozgur, S. Başaran +1 more
2012American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity
H. Aslan, N. Karaca, S. Başaran, H. Ermiş +1 more
2003BMC Pregnancy and Childbirth26 citations Open access
Semantic Scholar
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
B. Karaman, H. Kayserili, A. Ghanbari, Z. Uyguner +3 more
2018Molecular Cytogenetics25 citations Open access
Semantic Scholar
PRENATAL DIAGNOSIS OF β‐THALASSAEMIA AND SICKLE CELL ANAEMIA IN TURKEY
S. Tüzmen, Ghazi Omar Tadmouri, A. Özer, Shahid M. Baig +3 more
199623 citations
Semantic Scholar
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
Abdullah Uzumcu, B. Karaman, G. Toksoy, Z. Uyguner +7 more
2009European Journal of Medical Genetics21 citations
Semantic Scholar
A hereditary bisatellite-dicentric supernumerary chromosome in a case of cat-eye syndrome.
G. Lüleci, G. Bagci, Mürüvet Kivran, Ersin Lüleci +2 more
2008Hereditas20 citations Open access
Semantic Scholar
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.
G. Toksoy, H. Durmuş, A. Aghayev, G. Bagirova +13 more
2019Neuromuscular Disorders19 citations
Semantic Scholar
Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul
Y. Ergul, K. Nişli, H. Kayserili, B. Karaman +5 more
2012Acta Cardiologica19 citations
Semantic Scholar
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)
Hülya Kayserili, T. Cox, L. Cox, S. Başaran +3 more
2001Journal of Medical Genetics17 citations Open access
Semantic Scholar
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey
G. Toksoy, Dilek Uludağ Alkaya, G. Bagirova, Ş. Avcı +12 more
2020Molecular Syndromology16 citations Open access
Semantic Scholar
Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography.
Y. Ergul, K. Nişli, H. Kayserili, B. Karaman +6 more
2012Cardiology Journal14 citations Open access
Semantic Scholar
Prenatal diagnosis of beta-thalassaemia and sickle cell anaemia in Turkey.
S. Tüzmen, Ghazi Omar Tadmouri, A. Ōzer, S. Baig +3 more
1996Prenatal Diagnosis14 citations
Semantic Scholar
Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.
A. Yuksel, M. Seven, B. Karaman, Ş. Yılmaz +3 more
2002Clinical Dysmorphology13 citations
Semantic Scholar
Partial Molar Appearance of the Placenta in Trisomy 13
R. Has, L. Ibrahimoğlu, H. Ergene, H. Ermiş +1 more
2002Fetal Diagnosis and Therapy13 citations
Semantic Scholar
Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center
Tuğba Saraç Sivrikoz, S. Başaran, R. Has, B. Karaman +4 more
2021Archives of Gynecology and Obstetrics12 citations
Semantic Scholar
Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey.
E. Oral, G. Toksoy, Nigar Sofiyeva, H. Çelik +4 more
2019Journal of Gynecology Obstetrics and Human Reproduction12 citations
Semantic Scholar
A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.
Z. Uyguner, G. Toksoy, U. Altunoğlu, Hilal Ozgur +2 more
2015European Journal of Medical Genetics12 citations
Semantic Scholar
The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.
B. Karaman, M. Aytan, Kader Yilmaz, G. Toksoy +6 more
2006European Journal of Medical Genetics12 citations
Semantic Scholar
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
A. Gedikbaşı, G. Toksoy, Meryem Karaca, C. Gulec +10 more
2023Frontiers in Genetics10 citations Open access
Semantic Scholar
Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update
S. Demir, MH Müslümanoğlu, M. Muslumanoglu, S. Başaran +6 more
2019Balkan Journal of Medical Genetics10 citations Open access
Semantic Scholar
The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses
S. Başaran, A. Engur, M. Aytan, B. Karaman +8 more
2004Fetal Diagnosis and Therapy10 citations
Semantic Scholar
Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy
A. Baumer, D. Dres, S. Başaran, H. Işçi +2 more
2003Cytogenetic and Genome Research10 citations Open access
Semantic Scholar
Prenatal prediction of childhood‐onset spinal muscular atrophy (SMA) in Turkish families
S. Savas, Serpil Eraslan, S. Kantarci, B. Karaman +8 more
2002Prenatal Diagnosis10 citations
Semantic Scholar
Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism
S. Poyrazoglu, F. Baş, B. Karaman, M. Yıldız +2 more
2021Clinical Endocrinology9 citations
Semantic Scholar
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family
Z. Uyguner, M. Kocaoğlu, G. Toksoy, S. Başaran +1 more
2014Molecular Syndromology9 citations Open access
Semantic Scholar
Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male
A. Baumer, S. Başaran, M. Taralczak, K. Çefle +3 more
2007Cytogenetic and Genome Research9 citations Open access
Semantic Scholar
Screening for Fetal Chromosomal Abnormalities with Nuchal Translucency Measurement in the First Trimester
R. Has, I. Kalelioglu, H. Ermiş, L. Ibrahimoğlu +3 more
2006Fetal Diagnosis and Therapy9 citations
Semantic Scholar
Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl
Lukrecija Brecevic, S. Başaran, Fabrizio Dutly, B. Röthlisberger +1 more
2000Journal of Medical Genetics9 citations Open access
Semantic Scholar
Multiple origins of X chromosome tetrasomy.
Wendy P. Robinson, F. Binkert, A. Schinzel, S. Başaran +1 more
1994Journal of Medical Genetics9 citations Open access
Semantic Scholar
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
N. Akcan, O. Uyguner, F. Baş, U. Altunoğlu +10 more
2022Journal of Clinical Research in Pediatric Endocrinology7 citations Open access
Semantic Scholar
Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey.
Inci Emekli, Fatih Tepgeç, B. Samancı, G. Toksoy +8 more
2021Parkinsonism & Related Disorders7 citations
Semantic Scholar
Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient.
S. Başaran, V. Şensoy, K. Kıroğlu, L. Messiaen +1 more
2010Genetic Counseling7 citations
Semantic Scholar
Establishment of a Nonradioactive Molecular Diagnosis of Fragile-X Syndrome *
Z. Uyguner, B. Wollnik, H. Kayserili, T. Tukel +2 more
20007 citations
Semantic Scholar
FISH analysis with locus‐specific probes in sperm from two translocation carrier men
Beyhan Durak, Yavuz Hakan Özön, Muhsin Özdemir, S. Artan +3 more
1999Clinical Genetics7 citations
Semantic Scholar
A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure
E. Berkay, Can Veysel Şoroğlu, T. Kalaycı, Z. Uyguner +2 more
2022Zeitschrift für Induktive Abstammungs- und Vererbungslehre6 citations Open access
Semantic Scholar

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B. Karaman — researcher profile on SciRah
H. Kayserili×17
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G. Toksoy×14
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U. Altunoğlu — researcher profile on SciRah

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R. Has — researcher profile on SciRah

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