Prof. Dr. Yasemin Alanay
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Person ↔ Disease
Which diseases does this doctor work on?
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Abnormalities, Multiple 29 publicationsSource: OpenAlex / PubMed MeSHView publications
- Osteochondrodysplasias 23 publications
- Intellectual Disability 21 publications
- Dwarfism 15 publications
- Hand Deformities, Congenital 9 publications
- Bone Diseases, Developmental 9 publications
- Microcephaly 8 publications
- Achondroplasia 7 publications
- Musculoskeletal Abnormalities 7 publications
- Eye Abnormalities 7 publications
- Cleft Palate 6 publications
- Autoimmune Diseases 5 publications
- Osteogenesis Imperfecta 5 publications
- Neurodevelopmental Disorders 4 publications
- Joint Diseases 4 publications
- Limb Deformities, Congenital 4 publications
- Foot Deformities, Congenital 4 publications
- Fetal Growth Retardation 4 publications
- Heart Defects, Congenital 4 publications
- Developmental Disabilities 3 publications
- Calcinosis 3 publications
- Mandibulofacial Dysostosis 3 publications
- Nails, Malformed 3 publications
- Micrognathism 3 publications
- Fragile X Syndrome 3 publications
- Polydactyly 3 publications
- Contracture 3 publications
- Kyphosis 3 publications
- Arthropathy, Neurogenic 2 publications
- Spastic Paraplegia, Hereditary 2 publications
- Muscle Hypotonia 2 publications
- Immunologic Deficiency Syndromes 2 publications
- Lordosis 2 publications
- Cutis Laxa 2 publications
- Lupus Erythematosus, Systemic 2 publications
- Hematologic Diseases 2 publications
- Vestibular Diseases 2 publications
- Hypotrichosis 2 publications
- Joint Instability 2 publications
- Pierre Robin Syndrome 2 publications
- Noonan Syndrome 2 publications
- Hydrocephalus 2 publications
- Marfan Syndrome 2 publications
- Craniosynostoses 2 publications
- Fetal Death 2 publications
- Fetal Diseases 2 publications
- Cleft Lip 2 publications
- Strabismus 2 publications
- Down Syndrome 2 publications
Person ↔ Disease
Which topics does this doctor work on?
Medical areas of interest stated by the doctor on the institution profile. Source: acibadem.com.tr.
- Rare diseases
- Hirschsprung disease
- Harlequin fetus (harlequin ichthyosis)
- Fetal DNA testing
- Ehlers-Danlos syndrome
- Quadruple test
- Down syndrome
- DNA testing
- Carney complex
- Osteogenesis imperfecta (brittle bone disease)
- Achondroplasia
CV
Education and experience
Experience
- 2011Acıbadem Healthcare Groupacibadem.com.tr
- 2008 - 2011Hacettepe University Faculty of Medicine, Paediatrics, Paediatric Genetics Unit, Associate Professoracibadem.com.tr
- 2007 - 2008Hacettepe University Faculty of Medicine, Paediatrics, Paediatric Genetics Unit, Assistant Professoracibadem.com.tr
- 2005 - 2006Cedars-Sinai Medical Center–UCLA Intercampus Program, Research Fellowship in Skeletal Dysplasiasacibadem.com.tr
- 2004 - 2009Hacettepe University Institute of Health Sciences, Division of Basic Paediatric Sciences, Doctoral Programme in Geneticsacibadem.com.tr
- 2002 - 2007Hacettepe University Faculty of Medicine, Department of Paediatrics, Paediatric Genetics Unitacibadem.com.tr
- 1997 - 2002Hacettepe University Faculty of Medicine, Department of Paediatrics, specialty trainingacibadem.com.tr
- 1996 - 1997Marmara University Faculty of Medicine, Department of Paediatrics, specialty trainingacibadem.com.tr
Education
- 2011Medical Specialty Board (Tıpta Uzmanlık Kurulu), Paediatric Genetics (specialty training)acibadem.com.tr
- 2008Hacettepe University Faculty of Medicine / Associate Professoracibadem.com.tr
- 2002Hacettepe University Faculty of Medicine, Paediatrics (specialty training)acibadem.com.tr
- 1996Hacettepe University Faculty of Medicine (medical degree)acibadem.com.tr
Trust
Where does this information come from?
The source is stated next to each piece of information. If you see something wrong, you can suggest a correction.
- SpecialtyPaediatric Genetic Diseasesacibadem.com.trFrom source
- InstitutionAcıbadem Maslak Hastanesiacibadem.com.trFrom source
- Area of workAbnormalities, MultipleExtracted from 29 publications · Model version —From source
- Publications201 publicationsOpenAlexFrom source
- Last synchronised4 November 2026 21:00https://www.acibadem.com.tr/doktor/yasemin-alanay/acibadem.com.tr
Scientific work
Publications on Abnormalities, Multiple
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New genotype-phenotype correlations and management recommendations for individuals with RERE variants
Genetics in Medicine, 2026
DOI 10.1016/j.gim.2026.102580 PMID 41988794 1 citation (Europe PMC) Source: OpenAlex
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Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report
Journal of Child Neurology, 2026
DOI 10.1177/08830738261422860 PMID 41834381 Source: OpenAlex
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Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome
BMC Medical Education, 2026
DOI 10.1186/s12909-026-09158-y PMID 41963928 Open-access full textSource: OpenAlex
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Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 Patients
Research Square, 2026
DOI 10.21203/rs.3.rs-8842818/v1 Open-access full textSource: OpenAlex
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Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
Genome Medicine, 2026
DOI 10.1186/s13073-026-01667-1 PMID 42116163 Open-access full textSource: OpenAlex
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Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.
Open Access CRIS of the University of Bern, 2026
DOI 10.48620/97667 Source: OpenAlex
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Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
Figshare, 2026
DOI 10.6084/m9.figshare.32904645 Source: OpenAlex
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Perineal dysmorphism and patellar luxation in SLC35A2-CDG: a new piece in the glycosylation puzzle
The Turkish Journal of Pediatrics, 2026
DOI 10.24953/turkjpediatr.2026.8349 Source: OpenAlex
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De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder
Molecular Psychiatry, 2026
DOI 10.1038/s41380-026-03877-w PMID 41415500 Source: OpenAlex
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Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2 -related disorders
Brain, 2026
DOI 10.1093/brain/awag249 PMID 42496149 Source: OpenAlex