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Publication
303
Open Access
18
UN Sustainable Development Goals
Biography
My career launched as a clinical researcher in the gene identification era, later evolved into leadership in medical education and research and finally has reached the exciting period where treatment is possible and undiagnosed patients are the focus. I graduated from Hacettepe University School of Medicine, Ankara, Turkey. In 2002, I completed my pediatrics residency and worked as chief resident at Ihsan Dogramaci Children’s Hospital at Hacettepe University. As a pediatric genetics fellow at Turkey's largest children's hospital, my primary interest shifted towards genetic bone diseases and skeletal dysplasias. In 2005, with the TUBITAK Postdoctoral Research Fellowship, I attended "UCLA-Cedars Sinai Medical Center Skeletal Dysplasia Fellowship Program” in Los Angeles, USA. Under the mentorship of Prof. David Rimoin in the clinic, Prof. Ralph Lachman in skeletal radiology, and Prof. Deborah Krakow in the laboratory, I worked on a gene discovery project that led to the discovery of a new gene (FKBP10 gene) inherited in an autosomal recessive manner in osteogenesis imperfecta, considered a milestone in understanding the intracellular mechanisms of this condition. Upon my return to Turkey in 2006, I established a "Skeletal Dysplasia Database" within the Pediatric Genetics Department. The registry enabled my team at Hacettepe to take part in multinational collaborations in gene identification research in the field of skeletal dysplasias. As a clinical geneticist and dysmorphologist, I joined the Multidisciplinary Craniofacial Team at Hacettepe. We established a cohort for undiagnosed craniofacial and craniosynostosis patients in collaboration with neurosurgeons and plastic and reconstructive surgeons. As a team we participated in the CRANIRARE Project (Joint Transnational Call 2007-JTC2007). I became an Associate Professor in 2008. In 2009, I received my Medical Genetics Doctorate (PhD). In 2010, I was awarded the "Hacettepe Science Promotion Award”. In 2011, I moved to Istanbul and joined Acıbadem University Faculty of Medicine and became a Full Professor in 2013. I served as the Dean of Medical School at Acibadem University between 2015-2022. I organized the International Skeletal Dysplasia Society (ISDS) meeting in Istanbul in 2015 and served as the Society's President for a term. Within the European Society of Human Genetics (ESHG), I served as a Board Member from 2012 to 2017 and as a member of the Scientific Program Committee from 2018 to 2021.
Education
2002 - 2011
2002 - 2011Post Doctorate of Medicine
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü, Turkey
2004 - 2009
2004 - 2009Doctorate
Hacettepe University, Sağlık Bilimleri Enstitüsü, Pediyatrik Temel Bilimler A.B.D., Turkey
2005 - 2006
2005 - 2006Post Doctorate
University of California, Los Angeles, Cedars-Sinai Medical Center, United States Of America
1997 - 2002
1997 - 2002Expertise In Medicine
Hacettepe University, Tıp Fakültesi (Türkçe), Turkey
1990 - 1996
1990 - 1996Undergraduate
Hacettepe University, Tıp Fakültesi (İngilizce), Turkey
Research Areas
Medicine
Internal Medicine Sciences
Child Health and Diseases
Pediatric Genetics and Teratology
Medical Genetics
Research Areas Based on Academic Activities
Avesis Research Areas
WoS Research Areas
Scopus Research Areas
Academic Positions
2013 - Present
2013 - PresentProfessor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2011 - 2012
2011 - 2012Associate Professor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2008 - 2010
2008 - 2010Associate Professor
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
2005 - 2008
2005 - 2008Assistant Professor
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
2002 - 2005
2002 - 2005Expert
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
Managerial Experience
2023 - Present
2023 - PresentManager of Research and Application Center
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2020 - Continues
2020 - ContinuesMember of Commissions Affiliated to the Rectorate
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2020 - Continues
2020 - ContinuesMember of Commissions Affiliated to the Rectorate
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2018 - Continues
2018 - ContinuesApplied Research Center Board Member
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2015 - 2021
2015 - 2021Dean
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
Articles
All (214)
SCI-E, SSCI, AHCI (195)
SCI-E, SSCI, AHCI, ESCI (206)
ESCI (6)
Scopus (204)
TRDizin (13)
Other Publications (1)
2026
20261. Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis
Ozkose G. S., Topçu Y., Ay B., Özdemir Ö., Akgün Doğan Ö., Hatirnaz Ng Ö., et al.
Clinical Genetics
, vol.109, no.1, pp.149-154, 2026 (SCI-Expanded, Scopus)
2025
20252. Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia
Guven Tasbicen G., Tufan A., Savsar B., Bulbul A. A., Tonbul Z., Guzel E., et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES , vol.26, pp.1-33, 2025 (SCI-Expanded, Scopus)
2025
20253. Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.
Ay B., Akgun-Dogan Ö., Taylan F., Marcelis C., Abali S., Lim J. Y., et al.
American journal of medical genetics. Part A
, 2025 (SCI-Expanded, Scopus)
2025
20254. HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Lee E. H., Kim-Mcmanus O., Yang J. H., Haas R., Zaki M. S., Abdel-Salam G. M. H., et al.
Annals of Clinical and Translational Neurology
, vol.12, no.7, pp.1360-1367, 2025 (SCI-Expanded, Scopus)
2025
20255. BCL11B-related disease: a single phenotypic entity?
Vedovato-Dos-Santos J. H., Tooze R. S., Sithambaram S., McCann E., Alanay Y., Dogan Ö., et al.
European journal of human genetics : EJHG
, vol.33, no.4, pp.451-460, 2025 (SCI-Expanded, Scopus)
2025
20256. Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females
Altunoglu U., KARAMAN B., ALANAY Y., Percin F., UYGUNER Z. O., Kayserili H.
TURKISH ARCHIVES OF PEDIATRICS
, no.2, 2025 (ESCI, TRDizin)
2025
20257. MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS
Altunoglu U., Gunes N., Turgut G. T., KALAYCI T., Aslanger A. D., Derbent M., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, 2025 (ESCI, TRDizin)
2025
20258. CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan L., Silva A., Kleinendorst L., Rooney K., Haghshenas S., Lauffer P., et al.
HUMAN GENETICS AND GENOMICS ADVANCES
, vol.6, no.1, 2025 (ESCI, Scopus)
2025
20259. Navigating diagnostic challenges in Xeroderma Pigmentosum variant type Kseroderma Pigmentozum varyant tipinde tanısal zorluklara bakış
Saraç G., Dicle Ö., ALANAY Y., DEMİRKESEN C., ŞAHİN S.
Turkderm Turkish Archives of Dermatology and Venereology
, vol.59, no.2, pp.63-65, 2025 (ESCI, Scopus, TRDizin)
2025
202510. A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
Baldovino S., Sciascia S., Carta C., Salvatore M., Cellai L. L., Ferrari G., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.13, 2025 (SCI-Expanded, SSCI, Scopus)
2025
202511. Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience
Kava H., AKGÜN DOĞAN Ö., Yesilyurt A., ALANAY Y., Isik U.
Frontiers in Pediatrics
, vol.13, 2025 (SCI-Expanded, Scopus)
2025
202512. When Neuromotor Delay Meets Thyroid Dysfunction: A Case for Considering Allan-Herndon-Dudley Syndrome Wenn Neuromotorische Entwicklungsverzögerung auf Schilddrüsenfunktionsstörung trifft: Ein Fall für das Allan-Herndon-Dudley-Syndrom
KARAKAŞ H., AKGÜN DOĞAN Ö., Altun I., Velioǧlu Haślak G., Uçar M., TURAN H., et al.
Klinische Padiatrie
, 2025 (SCI-Expanded, Scopus)
2024
202413. BCL11B-related disease: a single phenotypic entity?
Vedovato-dos-Santos J. H., Tooze R., Mccann E., Sithambaram S., ALANAY Y., Johnson D., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1559-1560, 2024 (SCI-Expanded, Scopus)
2024
202414. Impact of deep phenotyping: High diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
AKGÜN DOĞAN Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1560, 2024 (SCI-Expanded, Scopus)
2024
202415. Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders
AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1172, 2024 (SCI-Expanded, Scopus)
2024
202416. ITGB4-Related pyloric atresia without epidermolysis in two siblings.
Aliyeva L., Beken S., Mancilar H., Albayrak E., Korkmaz A., Tander B., et al.
European journal of medical genetics
, vol.72, pp.104971, 2024 (SCI-Expanded, Scopus)
2024
202417. Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders
AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1172, 2024 (SCI-Expanded, Scopus)
2024
202418. CFAP99 deficiency leads to heterotaxy and scoliosis
Ay B., Viviano S., AKGÜN DOĞAN Ö., ALANAY Y., Deniz E.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1747-1748, 2024 (SCI-Expanded, Scopus)
2024
202419. CFAP99 deficiency leads to heterotaxy and scoliosis
Ay B., Viviano S., AKGÜN DOĞAN Ö., ALANAY Y., Deniz E.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1747-1748, 2024 (SCI-Expanded, Scopus)
2024
202420. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Delgado-Vega A. M., Cederroth H., Taylan F., Ekholm K., Ek M., Thonberg H., et al.
NATURE GENETICS
, no.11, pp.2287-2294, 2024 (SCI-Expanded, Scopus)
2024
202421. Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant
AKGÜN DOĞAN Ö., Diaz-Gonzalez F., de Lima Jorge A. A., Onenli-Mungan N., Menezes Andrade N. L., de Polli Cellin L., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.32, no.10, pp.1250-1256, 2024 (SCI-Expanded, Scopus)
2024
202422. Real-world experience with vosoritide treatment in achondroplasia: A single-center report from Turkey
ABALI S., Ozkose G. S., AKGÜN DOĞAN Ö., DEMİRCİOĞLU S., ALANAY Y.
HORMONE RESEARCH IN PAEDIATRICS
, pp.348-349, 2024 (SCI-Expanded, Scopus)
2024
202423. PERSISTENT GROWTH-PROMOTING EFFECTS OF VOSORITIDE IN CHILDREN WITH ACHONDROPLASIA FOR UP TO 4 YEARS: UPDATE FROM PHASE 3 EXTENSION STUDY
Savarirayan R., Tofts L., Irving M., Wilcox W. R., Bacino C. A., Hoover-Fong J. E., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.157-159, 2024 (SCI-Expanded, Scopus)
2024
202424. PERSISTENT GROWTH-PROMOTING EFFECTS OF VOSORITIDE IN CHILDREN WITH ACHONDROPLASIA IS ACCOMPANIED BY IMPROVEMENT IN PHYSICAL ASPECTS OF QUALITY OF LIFE
Savarirayan R., Tofts L., Irving M., Wilcox W. R., Bacino C. A., Hoover-Fong J. E., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.167-169, 2024 (SCI-Expanded, Scopus)
2024
202425. GROWTH-PROMOTING EFFECTS OF VOSORITIDE IN CHILDREN WITH ACHONDROPLASIA AGED=10 YEARS AT TREATMENT INITIATION: RESULTS FROM A PHASE 3 EXTENSION STUDY
Savarirayan R., Tofts L., Irving M., Wilcox W. R., Bacino C. A., Harmatz P. R., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.172-174, 2024 (SCI-Expanded, Scopus)
2024
202426. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Guner Yilmaz B., Akgun-Dogan Ö., Ozdemir Ö., Yuksel B., Hatirnaz Ng Ö., Bilguvar K., et al.
Frontiers in pediatrics
, vol.12, pp.1412880, 2024 (SCI-Expanded, Scopus)
2024
202427. A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C
Altindag E., ALANAY Y., Baykan B., Dervent A.
NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
, vol.61, no.2, pp.99-100, 2024 (SCI-Expanded, Scopus, TRDizin)
2024
202428. Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
Akgün Doğan Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.
FRONTIERS IN GENETICS
, vol.15, 2024 (SCI-Expanded, Scopus)
2023
202329. A new line method; A direct test in spinal muscular atrophy screening for DBS
Kubar A., Temel S. G., Beken S., Onder G., Hatirnaz Ö., Korkmaz A., et al.
Molecular Genetics and Genomic Medicine
, vol.11, no.12, 2023 (SCI-Expanded, Scopus)
2023
202330. Treatment dilemma in a prepubertal patient with ACAN mutation but without advanced bone age
Kozler S. H., GÜRPINAR G., Kilci F., KOÇYİĞİT E., ALANAY Y., JONES J. H., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.174-175, 2023 (SCI-Expanded, Scopus)
2023
202331. An adolescent boy with PLS3 mutation causing severe thoracic kypho-scoliosis
Kilci F., JONES J. H., GÜRPINAR G., KOÇYİĞİT E., ÇAKIR Ö., CEYLANER S., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.163, 2023 (SCI-Expanded, Scopus)
2023
202332. Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Chong J. X., Childers M. C., Marvin C. T., Marcello A. J., Gonorazky H., Hazrati L., et al.
HUMAN GENETICS AND GENOMICS ADVANCES
, vol.4, no.3, 2023 (ESCI, Scopus)
2023
202333. Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: update from Phase 3 extension study
Polgreen L. E., Savarirayan R., Tofts L., Irving M., Wilcox W. W., Bacino C. A., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 3, pp.149-151, 2023 (SCI-Expanded, Scopus)
2023
202334. The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review
KARAMIK G., Tuysuz B., Isik E., Yilmaz A., ALANAY Y., Sunamak E. C., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.191, no.7, pp.1814-1825, 2023 (SCI-Expanded, Scopus)
2023
202335. DNAJC21-related thrombocytopenia in a young adult female
ASLAN D., AKGÜN DOĞAN Ö., Ay B., ÇAMURDAN M. O., Mancilar H., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
, vol.193, no.2, pp.193-197, 2023 (SCI-Expanded, Scopus)
2023
202336. Real-world evidence in achondroplasia: considerations for a standardized data set
ALANAY Y., Mohnike K., Nilsson O., Alves I., AlSayed M., Appelman-Dijkstra N. M., et al.
ORPHANET JOURNAL OF RARE DISEASES
, no.1, 2023 (SCI-Expanded, Scopus)
2023
202337. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
Parra A., Rabin R., Pappas J., Pascual P., Cazalla M., Arias P., et al.
GENES
, vol.14, no.6, 2023 (SCI-Expanded, Scopus)
2023
202338. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients
Akalin A., Ozsin C., KOÇ N., Demir G. U., Alanay Y., ÜTİNE G. E., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, vol.66, no.4, 2023 (SCI-Expanded, Scopus)
2023
202339. Persistent and stable growth promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: results from an ongoing Phase 3 extension study
Polgreen L. E., Savarirayan R., Tofts L., Irving M., Wilcox W., Bacino C. A., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 2, pp.28-29, 2023 (SCI-Expanded, Scopus)
2023
202340. Obstacles and expectations of rare disease patients and their families in Turkiye: ISTisNA project survey results
Hatirnaz Ng Ö., Sahin I., Erbilgin Y., Ozdemir Ö., Yucesan E., Erturk N., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.10, 2023 (SCI-Expanded, SSCI, Scopus)
2023
202341. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
Taruscio D., Salvatore M., Lumaka A., Carta C., Cellai L. L., Ferrari G., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.11, 2023 (SCI-Expanded, SSCI, Scopus)
2023
202342. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
Sciascia S., Roccatello D., Salvatore M., Carta C., Cellai L. L., Ferrari G., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.11, 2023 (SCI-Expanded, SSCI, Scopus)
2022
202243. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Savarirayan R., Irving M., Harmatz P., Delgado B., Wilcox W. R., Philips J., et al.
GENETICS IN MEDICINE
, vol.24, no.12, pp.2444-2452, 2022 (SCI-Expanded, Scopus)
2022
202244. Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
GÜLERAY LAFCI N., KOŞUKCU C., Oguz S., Demir G. U., Taskiran E. Z., Kiper P. O. S., et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL
, vol.59, no.9, pp.1114-1124, 2022 (SCI-Expanded, Scopus)
2022
202245. Defining mitochondrial protein functions through deep multiomic profiling
Rensvold J. W., Shishkova E., Sverchkov Y., Miller I. J., ÇETİNKAYA A., Pyle A., et al.
NATURE
, vol.606, pp.382-388, 2022 (SCI-Expanded, Scopus)
2022
202246. Genetik Hastalık Şüphesi Olan Fetal ve Pediatrik Hastalarda Moleküler Otopsinin Klinik Faydası
AKGÜN DOĞAN Ö., AĞAOĞLU N. B., ALANAY Y.
Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi , vol.11, no.1, pp.82-89, 2022 (TRDizin)
2021
202147. Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report
Bozkurt T., ALANAY Y., ISIK U., SEZERMAN O. U.
BMC MEDICAL GENOMICS
, vol.14, no.1, 2021 (SCI-Expanded, Scopus)
2021
202148. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Simsek-Kiper P. O., Urel-Demir G., Taskiran E. Z., Arslan U. E., Nur B., Mihci E., et al.
Journal of human genetics
, vol.66, pp.585-596, 2021 (SCI-Expanded, Scopus)
2021
202149. How Medical Education Has Been Affected in the COVID-19 Global Outbreak? Acıbadem University Faculty of Medicine Experience
BAKIRCI N., ALTINTAŞ L., ŞAHİNER M., SÜYEN G., ALANAY Y.
Tıp Eğitimi Dünyası
, vol.20, no.60-1, pp.83-86, 2021 (TRDizin)
2021
202150. Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
Botto L. D., Meeths M., Campos-Xavier B., Bergamaschi R., Mazzanti L., Scarano E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.185, no.2, pp.517-527, 2021 (SCI-Expanded, Scopus)
2021
202151. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Bertoli-Avella A. M., Beetz C., Ameziane N., Rocha M. E., Guatibonza P., Pereira C., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.29, no.1, pp.141-153, 2021 (SCI-Expanded, Scopus)
2020
202052. Whole Exome Sequencing of consanguineous families of clinically diagnosed with Neurodevelopmental Disorders
Turkgenc B., Yararbas K., Karakoyun H. K., Yesilyurt A., Gezdirici A., Tatli B., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.28, no.SUPPL 1, pp.886-887, 2020 (SCI-Expanded, Scopus)
2020
202053. Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey
TOKSOY G., ULUDAĞ ALKAYA D., Bagirova G., Avci S., Aghayev A., Gunes N., et al.
MOLECULAR SYNDROMOLOGY
, vol.11, no.4, pp.183-196, 2020 (SCI-Expanded, Scopus)
2020
202054. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D., Teinert J., Behne R., Wimmer M., D'Amore A., Eberhardt K., et al.
Brain : a journal of neurology
, vol.143, pp.2929-2944, 2020 (SCI-Expanded, Scopus)
2020
202055. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
Savarirayan R., Tofts L., Irving M., Wilcox W., Bacino C. A., Hoover-Fong J., et al.
LANCET
, vol.396, no.10252, pp.684-692, 2020 (SCI-Expanded, Scopus)
2020
202056. Intrauterine Cataract Diagnosis and Follow-up
Aksay S., BİLDİRİCİ İ., COŞAR C. B., ALANAY Y., Cigerciogullari E.
TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY
, vol.50, no.4, pp.245-247, 2020 (Peer-Reviewed Journal)
2020
202057. Recurrent hydatidiform mole: When to stop ?
ÖZBAŞLI E., TAKMAZ Ö., Gurkan H., ALANAY Y., GÜNGÖR M., DEDE F. S.
Clinical and Experimental Obstetrics and Gynecology
, vol.47, no.3, pp.424-426, 2020 (SCI-Expanded, Scopus)
2020
202058. A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia
Pogreen L., Savarirayan R., Tofts L., Rehab K., Irving M., Wilcox W., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.93, pp.169-170, 2020 (SCI-Expanded, Scopus)
2020
202059. The third family with TAF6-related phenotype: Alazami-Yuan syndrome
Tuc E., Bengur F. B., Aykut A., ŞAHİN Ö., ALANAY Y.
CLINICAL GENETICS
, vol.97, no.5, pp.795-796, 2020 (SCI-Expanded, Scopus)
2020
202060. The process of how mothers with down's syndrome children learn about the diagnosis: A qualitative research
Basgul S. S., Mutlu D., ALANAY Y., Toker M.
ANNALS OF CLINICAL AND ANALYTICAL MEDICINE
, vol.11, no.1, pp.54-58, 2020 (Peer-Reviewed Journal)
2019
201961. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome
Simsek-Kiper P. O., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., Cormier-Daire V., Gonc N., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.179, no.7, pp.1157-1172, 2019 (SCI-Expanded, Scopus)
2019
201962. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
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201964. A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.
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201865. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome
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201866. Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
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201867. Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry
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201868. Parieto-occipital alopecia in early infancy mandates cranial imaging
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201869. Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome
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201770. Dental Findings and Mutational Analysis of a Case withEhlers-Danlos Syndrome
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201771. A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen
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201773. Gorlin Syndrome in Eleven Patients
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201774. Clinical genetics and classification of craniosynostosis
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201775. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
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201680. Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature
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201589. Mutations in LONP1, a Mitochondrial Matrix Protease, Cause CODAS Syndrome
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201591. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
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201594. A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582)
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201498. Etiological yield of SNP microarrays in idiopathic intellectual disability
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201499. Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects
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2014103. Celiac disease in Williams-Beuren syndrome
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2014104. Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): A Potential Role of Pericentrin in Hematopoiesis
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2014105. TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia
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2014106. FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome
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2014107. A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism
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2014108. Neurochemical Evaluation of Brain Function With H-1 Magnetic Resonance Spectroscopy in Patients With Fragile X Syndrome
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2013110. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
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2011136. A mutation screen in patients with Kabuki syndrome
Li Y., Boegershausen N., ALANAY Y., ŞİMŞEK KİPER P. Ö., Plume N., Keupp K., et al.
HUMAN GENETICS
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2011
2011137. Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid
Laue K., Pogoda H., Daniel P. B., van Haeringen A., ALANAY Y., von Ameln S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
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2011
2011138. Pentalogy of Cantrell: A case report Tam ektopia kordisli bir Cantrell pentalojisi vakasi
KILIÇ E., Alanay Y., Korkmaz A., Ütine E., KARAGÖZ T., Boduroǧlu K.
Cocuk Sagligi ve Hastaliklari Dergisi
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2011
2011139. A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype
ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K.
TURKISH JOURNAL OF PEDIATRICS
, vol.53, no.5, pp.558-560, 2011 (SCI-Expanded, Scopus)
2011
2011140. Catel-Manzke Syndrome: A Clinical Report Suggesting Autosomal Recessive Inheritance
ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.9, pp.2288-2292, 2011 (SCI-Expanded, Scopus)
2011
2011141. Beals Hecht Syndrome-Arthrogryposis Multiplex Congenita-Congenital Arachnodactyly: Case Report
Gokkaya N. K. O., Ucan H., Uckun A. C., ALANAY Y.
TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION
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2011
2011142. Mutations in the TGF beta Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Le Goff C., Mahaut C., Wang L. W., Allali S., Abhyankar A., Jensen S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
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2011
2011143. Spondyloenchondrodysplasia: a rare cause of short stature
Yesiltepe-Mutlu G., ÖZSU CAVGA E., ÇİZMECİOĞLU JONES F. M., ALANAY Y., Hatun S.
TURKISH JOURNAL OF PEDIATRICS
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2011
2011144. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., et al.
JOURNAL OF MEDICAL GENETICS
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2011
2011145. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Putoux A., Thomas S., Coene K. L. M., Davis E. E., ALANAY Y., Ogur G., et al.
NATURE GENETICS
, vol.43, no.6, pp.601-607, 2011 (SCI-Expanded, Scopus)
2011
2011146. Rapid prenatal diagnosis of common aneuploidies by QF-PCR in the Turkish population
Aktas D., Kutukcu B., Bayram Y., ÜTİNE G. E., ALANAY Y., ÖZYÜNCÜ Ö., et al.
CHROMOSOME RESEARCH
, vol.19, 2011 (SCI-Expanded, Scopus)
2011
2011147. Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases
BİLGİNER Y., ALANAY Y., DÜZOVA A., TOPALOĞLU R., Superti-Furga A., ÖZEN S., et al.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
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2011
2011148. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
Lausch E., Janecke A., Bros M., Trojandt S., ALANAY Y., De Laet C., et al.
NATURE GENETICS
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2011
2011149. PHENOTYPICAL PROPERTIES AND RESPONSE TO CHOLESTEROL THERAPY OF SMITH-LEMLI-OPITZ SYNDROME CASES
Kilic M., Tokatli A., ALANAY Y., Kilic E., Kalkanoglu-Sivri H. S., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
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2011
2011150. OPINIONS OF TURKISH PHYSICIANS TOWARDS TERMINATION OF PREGNANCY FOR FETAL DISORDERS
Utine G. E., Kiper P. O., Salanci B. V., ALANAY Y., Aktas D., Alikasifoglu M., et al.
GENETIC COUNSELING
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2011
2011151. Searching f(o)r Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability
Utine G. E., Kiper P. O., ALANAY Y., Haliloglu G., Aktas D., BODUROĞLU O. K., et al.
MOLECULAR SYNDROMOLOGY
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2010
2010152. Perinatal mortality analysis from 2001-2006 at Hacettepe University Hospital Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi
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Cocuk Sagligi ve Hastaliklari Dergisi
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2010153. Cervical Spine Dysmorphism: Report of Two Unusual Cases of Craniovertebral Junction
Daglioglu E., ALANAY Y., Ozdol C., Okay O., Dalgic A., Belen D.
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
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2010154. Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies
Tuncbilek G., ALANAY Y., UZUN H., Kayikcioglu A., AKARSU A. N., Benli K.
JOURNAL OF CRANIOFACIAL SURGERY
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2010
2010155. FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? Response
ALANAY Y., Krakow D.
AMERICAN JOURNAL OF HUMAN GENETICS
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2010
2010156. Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
Uz E., ALANAY Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
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2010
2010157. Cowden syndrome with bronchial asthma
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TURKISH JOURNAL OF PEDIATRICS
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2010
2010158. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
ALANAY Y., Avaygan H., Camacho N., ÜTİNE G. E., BODUROĞLU O. K., Aktas D., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
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2010
2010159. A Variant of Desbuquois Dysplasia Characterized by Advanced Carpal Bone Age, Short Metacarpals, and Elongated Phalanges: Report of Seven Cases
Kim O., Nishimura G., Song H., Matsui Y., Sakazume S., Yamada M., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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2010
2010160. A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis
ÜTİNE G. E., Breckpot J., Thienpont B., ALANAY Y., Aksoy C., BODUROĞLU O. K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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2010
2010161. Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene
Gok F., Crettol L. M., ALANAY Y., Hacihamdioglu B., Kocaoglu M., Bonafe L., et al.
EUROPEAN JOURNAL OF PEDIATRICS
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2010
2010162. Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome
Iqbal Z., Cejudo-Martin P., de Brouwer A., van der Zwaag B., Ruiz-Lozano P., Scimia M. C., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
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2010163. Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth
Boybeyi Ö., ALANAY Y., Kayikcioglu A., KARNAK İ.
JOURNAL OF PEDIATRIC SURGERY
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2010164. OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels
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Human Mutation
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2009165. Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
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AMERICAN JOURNAL OF HUMAN GENETICS
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2009166. Identification of CANT1 Mutations in Desbuquois Dysplasia
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AMERICAN JOURNAL OF HUMAN GENETICS
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2009167. ALX4 dysfunction disrupts craniofacial and epidermal development
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HUMAN MOLECULAR GENETICS
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2009168. Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
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TURKISH JOURNAL OF PEDIATRICS
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2009169. Infantile Systemic Hyalinosis: A Case Report
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TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
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2009170. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
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JOURNAL OF MEDICAL GENETICS
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2009171. Wilms Tumor, AML and Medulloblastoma in a Child With Cancer Prone Syndrome of Total Premature Chromatid Separation and Fanconi Anemia
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PEDIATRIC BLOOD & CANCER
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2009172. Le Fort III Bipartition Osteotomy to Treat a Rare Craniofacial Anomaly: Frontofacionasal Dysostosis
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JOURNAL OF CRANIOFACIAL SURGERY
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2009173. Partial Distal Aphalangia, Duplication of Metatarsal IV, Microcephaly and Borderline Intelligence: A Third Patient Suggesting Autosomal Recessive Inheritance
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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2009
2009174. Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes
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TURKISH JOURNAL OF PEDIATRICS
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2009175. PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality
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HUMAN MUTATION
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2009176. Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients
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TURKISH JOURNAL OF PEDIATRICS
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2009177. TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in cousin syndrome
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EUROPEAN JOURNAL OF PEDIATRICS
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2009178. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum
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ACTA OPHTHALMOLOGICA
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2008179. Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment
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PEDIATRICS INTERNATIONAL
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2008180. TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
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AMERICAN JOURNAL OF HUMAN GENETICS
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2008181. Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome
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CLINICAL DYSMORPHOLOGY
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2008182. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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2008183. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH
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EUROPEAN JOURNAL OF MEDICAL GENETICS
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2008184. Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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2008186. KABUKI SYNDROME AND TRISOMY 10p
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2007187. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: Report of four cases
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2007189. Infantile systemic hyalinosis, a case report
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2007190. Cavernous malformation with Poland-Mijbius syndrome - Case illustration
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2007191. Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006)
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2007192. Cerebro-facio-thoracic dysplasia: expanding the phenotype
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CLINICAL DYSMORPHOLOGY
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2006196. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome
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PEDIATRIC RADIOLOGY
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2006197. Congenital contractural arachnodactyly (Beals syndrome)
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2005204. Celiac disease screening in 100 Turkish children with Down syndrome
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2005205. Clinical heterogeneity of hereditary optic atrophy in a Turkish family
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NEURO-OPHTHALMOLOGY
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2005206. The evolution of sagittal segmental alignment of the spine during childhood
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2005207. A case of ring chromosome 18 with mild phenotypic features
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2004208. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
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2004209. Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance
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2004
2004210. Femoral-facial syndrome: A case-report Femoral hipoplazi ve deǧişik yüz görünü mü sendromu: Bir vaka takdimi
Korkmaz A., Çinar A., TEKŞAM Ö., YURDAKÖK M., Alanay Y., Balci S.
Cocuk Sagligi ve Hastaliklari Dergisi
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2004
2004211. Noonan syndrome and systemic lupus erythematosus: presentation in childhood
ALANAY Y., Balci S., Ozen S.
CLINICAL DYSMORPHOLOGY
, vol.13, no.3, pp.161-163, 2004 (SCI-Expanded, Scopus)
2004
2004212. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women
BODUROĞLU O. K., ALANAY Y., Koldan B., Tuncbilek E.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.1, pp.5-10, 2004 (SCI-Expanded, Scopus)
2003
2003213. Perinatal mortality rate - Hospital based study during 1998-2001 at Hacettepe University
Durukan T., Onderoglu L., Deren O., Saygan-Karamursel B., Erdem G., Oran O., et al.
JOURNAL OF PERINATAL MEDICINE
, vol.31, no.5, pp.435-440, 2003 (SCI-Expanded, Scopus)
2001
2001214. Localized acquired hypertrichosis following cast application
Kara A., Kanra G., Alanay Y.
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Papers Presented at Peer-Reviewed Scientific Conferences
2025
20251. Functional Investigation of Pathogenic Variants in CCN6 Causing Progressive Pseudorheumatoid Dysplasia
Güven Taşbiçen G., Bayram Akçapınar G., Akgün Doğan Ö., Tahir Turanlı E., Alanay Y.
European Human Genetics Conference 2025, Milan, Italy, 24 - 27 May 2025, pp.1, (Summary Text)
2025
20252. Integrating Standardized Biobanking into Rare Disease Research: Insights from the ACURARE Biobank
Şahim İ., ANTMEN F. M., Erdoğan C., Onder G., Özköse İyigel G. Ş., Yılmaz J. C., et al.
Europe Biobank Week Congress, Bologna, Italy, 13 - 16 May 2025, (Summary Text)
2025
20253. Yenidoğanlarda SMA, DiGeorge Sendromu ve AKIY Taraması: İlk Veriler ve Ön Değerlendirme Sonuçları
Beken S., Önder G., Moniri A., Kılıçkaya U., Kubar A., Doğan Coşar Ö., et al.
32. Ulusal Neontoloji Kongresi, Antalya, Turkey, 17 - 20 April 2025, pp.69-70, (Summary Text)
2024
20244. EARLY REAL-WORLD EXPERIENCE WITH VOSORITIDE TREATMENT IN ACHONDROPLASIA: A SINGLE-CENTER REPORT FROM TURKEY
Abalı S., Özköse S. G., Akgün Doğan Ö., Semiz S., Alanay Y.
16. International Skeletal Dysplasia Society Meeting, Madrid, Spain, 18 - 21 September 2024, (Summary Text)
2024
20245. Functional Investigations of Pathogenic Variations in CCN6, Progressive Pseudorheumatoid Dysplasia Disease Gene, in Chondrocyte Cell Lines
Güven Taşbiçen G., Tahir Turanlı E., Alanay Y.
9th International Congress of the Molecular Biology Association of Turkey, İzmir, Turkey, 12 - 14 September 2024, pp.1-138, (Summary Text)
2024
20246. Impact of deep phenotyping: High diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
Akgün Doğan Ö., Alanay Y., Özdemir Ö.
ESHG 2024, Berlin, Germany, 6 - 09 June 2024, pp.1-4, (Summary Text)
2024
20247. TREC copy number determination for severecombined immundeficiency disease detection from the Guthrie card
Akgün Doğan Ö., Hatırnaz Ng Ö., Alanay Y.
Recent Advances in Primary Immunodysregulation Dsorders(RAPID) Meeting, Dukhan, Qatar, 07 May 2024 - 09 May 2025, pp.1-2, (Unpublished)
2024
20248. Screening of Severe Combined Immunodeficiency Disease in Newborn Guthre Cards by Determining The TREC Copy Numbers
Hatırnaz Ng Ö., Beken S., Alanay Y.
Recent Advances in Primary Immunodysregulation Disorders (RAPID) Congress, Dukhan, Qatar, 9 - 10 May 2024, (Unpublished)
2024
20249. Yoğun Bakımdaki Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı-İlk Türkiye Deneyimi
Güner Yılmaz B., Akgün Doğan Ö., Özdemir Ö., Bilgüvar K., Hatırnaz Ng Ö., Özköse G. Ş., et al.
Ulusal Neonatoloji Kongresi, Antalya, Turkey, 24 - 28 April 2024, (Unpublished)
2023
202310. Neuroimaging features of MOPDII in ten patients with PCNT mutation: A Tertiary Centre Experience
Akalin A., GÖÇMEN R., Simsek-Kiper P., TAŞKIRAN Z. E., ALANAY Y., HALİLOĞLU V. G., et al.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, England, 10 - 13 June 2023, pp.408-409, (Summary Text)
2023
202311. Camptodactyly, Tall Stature, And Hearing Loss Syndrome with a Novel Homozygous FGFR3 Variant
Akgün Doğan Ö., Abalı S., Alanay Y.
19th Manchester Dysmorphology Conference 2023, Manchester, England, 16 - 18 November 2023, pp.13-14, (Full Text)
2023
202312. First Report of Heterozygous Intragenic Deletion in NPR2 Presenting with Familial Short Stature
Akgün Doğan Ö., Alanay Y.
19th Manchester Dysmorphology Conference 2023, Manchester, England, 16 - 18 November 2023, pp.10-12, (Full Text)
2023
202313. Türkiye’De Yoğun Bakımdaki Kritik Pediatrik Hastalarda Hızlı Tüm Genom Dizileme: Bir Ön Çalışma
Akgün Doğan Ö., Alanay Y., Özdemir Ö., Hatırnaz Ng Ö., Beken S.
6. Çocuk Genetik Ulusal Kongresi, İzmir, Turkey, 9 - 12 November 2023, pp.87-88, (Full Text)
2023
202314. Obstacles and Expectations of Rare Disease Patients and Their Families in Türkiye: ISTisNA Project Survey Results
Hatırnaz Ng Ö., Özdemir Ö., Alanay Y., Akgün Doğan Ö.
12th International Conference on Rare and Undiagnosed Diseases, Tbilisi, Georgia, 22 - 23 October 2023, pp.1, (Summary Text)
2022
202215. Multiple epiphyseal dysplasia: A diagnostic challenge with genetic heterogeneity
Dasar T. N., TAŞKIRAN Z. E., Urel-Demir G., KARAOSMANOĞLU B., İMREN G., YILMAZ G., et al.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.397, (Summary Text)
2022
202216. From patient to function: modeling CRIM1 in xenopus tropicalis
AKGÜN DOĞAN Ö., Viviano S., HATIRNAZ NG Ö., Agaoglu N. B., Ji W., Jeffries L., et al.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.656-657, (Summary Text)
2022
202217. Biallelic copy number variations in both upstream & downstream enhancers of SHOX gene causes mesomelia and clubfoot without short stature
Yilmaz B. G., ABALI S., Akberzade A., Ay B., Tumer S., AKGÜN DOĞAN Ö., et al.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.127, (Summary Text)
2022
202218. Retrospective analysis of fetal magnetic resonance imaging (feMRI) examinations in the last 10 years at a tertiary center: experience of a single radiologist and a single perinatologist
Ay B., Sari E., ALİS D. C., KARAARSLAN E., Bildirici I., ALANAY Y.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.105, (Summary Text)
2023
202319. Geçici neonatal myasteni gravis mi? Fetal asetilkolin reseptör inaktivasyon sendromu mu?8
Aktas S., Kazancı E., Güner Yılmaz B., Korkmaz Toygar A., Alanay Y., Çomu S.
Ulusal Neonatoloji Kongresi, Antalya, Turkey, 26 - 30 April 2023, (Unpublished)
2022
202220. Severely Affected Newborn Female With De Novo Likely Pathogenic Variant In BCAP31
Güner Yılmaz B., Aktas S., Kazancı E., Zeybel G., Özköse G. Ş., Akgün Doğan Ö., et al.
Undiagnosed diseases network international (UDNI), Vienna, Austria, 7 - 08 November 2022, (Unpublished)
2022
202221. Evaluation of the etiology of epilepsy and/or developmental delay in children with next generation sequencing:A single center experience
Kava H., Alanay Y., Yeşilyurt A., Isık U.
17. International Child Neurology Congress, Antalya, Turkey, 3 - 07 October 2022, pp.2, (Unpublished)
2021
202122. Molecular Diagnosis of TYR Negative Albinism Patients by Clinical Exome Sequencing
Akyoney S., Sahin I., Unal B., Agaoglu N. B., Mudun A., Parlakgunes Z., et al.
54th Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 28 - 31 August 2021, pp.118, (Summary Text)
2020
202023. The third family with TAF6-related phenotype: Alazami-Yuan syndrome
Tuc E., Bengur F. B., Aykut A., ŞAHİN Ö., ALANAY Y.
53rd Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 6 - 09 June 2020, pp.904, (Summary Text)
2020
202024. A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia
Savarirayan R., Tofts L., Irving M., Wilcox W., Bacino C., Hoover-Fong J., et al.
Annual Meeting of the American-Society-for-Bone-and Mineral Research (ASBMR), ELECTR NETWORK, 11 - 15 September 2020, vol.35, pp.18, (Summary Text)
2020
202025. Postnatal mikrosefali, dirençli epilepsi ve konjenital kalp hastalığı olan bir olguda RHOBTB2 varyantı
Isık U., Deliceo Göbüt E., Alanay Y.
22. Ulusal Çocuk Nöroloji Kongresi, İstanbul, Turkey, 28 October - 01 November 2020, pp.75, (Full Text)
2019
201926. Congenital talipes equinovarus and bowing of femur due to homozygous TRPV6 mutation
Abalı S., Alanay Y.
The 58th Annual ESPE Meeting, Vienna, Austria, 19 - 21 September 2019, (Unpublished)
2019
201927. Does my expertise still make a difference? A single-clinician's experience of genomic sequencing in 120 pediatric patients
Bengur F. B., KAR E., YARARBAŞ K., ALANAY Y.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1506-1507, (Summary Text)
2019
201928. Screening TYR gene variations in Turkish oculocutaneuse albinism patients
Ng O. H., YILMAZ E., Parlakgunes Z., YARARBAŞ K., Ziylan S., ALANAY Y., et al.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1233-1234, (Summary Text)
2019
201929. WAC geninde tanımlanan yeni bir varyant ve DeSanto-Shinawi Sendromu
Tunç E., TEMEL Ş. G., ALANAY Y.
4.Çocuk Genetik Kongresi, Turkey, 25 - 27 September 2019, (Summary Text)
2019
201930. Meester-Loeys sendromu: Marfan benzeri sendromlara yeni bir üye
ZEYBEK S., TEMEL Ş. G., NUR B., ÖZEMRİ SAĞ Ş., ALANAY Y., MIHÇI E.
4. Ulusal Çocuk Genetik Kongresi, Turkey, 25 - 27 September 2019, (Summary Text)
2019
201931. The Skeletal Dysplasia Registry: Hacettepe Experience
ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ÜTİNE G. E., ALANAY Y., et al.
The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019, (Full Text)
2019
201932. Clinical, biochemical and molecular delineation of non-classical mucopolysaccharidosis IVA in three siblings previously diagnosed as Perthes disease
Yararbaş K., Abalı S., Ersoy M., Arslan Ş., Çelebi A. R. C., Alanay Y.
The 14th Biennial International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019, pp.1, (Summary Text)
2018
201833. Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene
Kablan A., Mat B., Temel Ş. G., ALANAY Y.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.916-917, (Summary Text)
2018
201834. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challange
Oguz S., Kiper P. O. S., Utine G. E., ALANAY Y., Ozen S., BODUROĞLU O. K., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.97, (Summary Text)
2018
201835. Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients
Turkgenc B., TEMEL Ş. G., UYSAL F., Atik S. U., Oztunc F., Sulu A., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.150, (Summary Text)
2018
201836. Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry
Simsek-Kiper P. O., Utine G. E., Taskiran E. Z., Kosukcu C., Arslan U., ALANAY Y., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.130, (Summary Text)
2018
201837. Possible effect of IGFR1 gene on macrocephaly in a patient with unbalanced 6;15 translocation with 6p25 deletion and 15q26 duplication
YARARBAŞ K., Sayar C., Tumer S., Ozciger D., Tavukcu C., Oncu N., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.992, (Summary Text)
2019
201938. Bir Uygulama Örneği: (Durum Bildirir Rapor: ) Acıbadem Üniversitesi Tıp Fakültesi Faz 1 Programını Değerlendirme ve Geliştirme Çalışması
Şahiner A. M., Süyen G., Bakırcı N., Alanay Y., Altıntaş L.
Ulusal Tıp Eğitimi Sempozyumu 2019, Eskişehir, Turkey, 10 - 12 April 2019, vol.1, no.281214, pp.1, (Summary Text)
2019
201939. BİLEŞİK HETEROZİGOT GALNS MUTASYONU İLE TANI ALAN KLASİK OLMAYAN MUKOPOLİSAKKARİDOZ TİP IVA
ABALI S., YARARBAŞ K., Ersoy Olbak M., Karabıyık N., İçten İ., ÇELEBİ A. R. C., et al.
3. EGE ENDOKRİN HASTALIKLAR VE GENETİK SEMPOZYUMU, Turkey, 8 - 09 March 2019, (Summary Text)
2017
201740. Baraitser-Winter Syndrome in a boy with heterozygous missense mutation in the ACTB gene
Temel Ş. G., Ekmekci G., Yenmis G., Kiper P. O. S., ALANAY Y.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.956, (Summary Text)
2018
201841. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challenge.
OĞUZ S., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALANAY Y., ÖZEN S., BODUROĞLU O. K., et al.
European Human Genetics Conference, 16 - 19 June 2018, (Full Text)
2018
201842. Alan Seçmeli Dersler Programı: İlk Uygulama Döneminin Tamamlanmasının Ardından Genel Bir Değerlendirme
Altıntaş L., Artvinli F., Öktem Okullu S., Şahiner A. M., Bakırcı N., Alanay Y.
Ulusal Tıp Eğitimi Kongresi 2018, İzmir, Turkey, 9 - 12 May 2018, vol.1, no.453687, pp.1-2, (Summary Text)
2018
201843. Otozomal resesif infantil bilateral striatal nekroz,nup 62 geninde mutasyon: olgu sunumu
ÜNVER O., SAĞER S. G., ÖZTÜRK THOMAS G., EKİNCİ G., ALANAY Y., TÜRKDOĞAN D.
20. Çocuk Ulusal Nörolojisi Kongresi, Cyprus (Kktc), 2 - 06 May 2018, (Summary Text)
2018
201844. Normal enzim düzeyleri ve Japon Bayrağı göz dibi ile GM2 Gangliyosidoz tanısı alan iki kardeş: olgu sunumu
ÜNVER O., ÖZTÜRK THOMAS G., SAĞER S. G., EKİNCİ G., ALANAY Y., TÜRKDOĞAN D.
6. uluslararası katılımlı lizozomal hastalıklar kongresi, Turkey, 11 - 15 April 2018, (Summary Text)
2017
201745. Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome
TEMEL Ş. G., Turkgenc B., KARADAĞ Ö., AYKAN H. H., UYSAL F., Bastuhan I. Y., et al.
European Biotechnology Congress, Dubrovnik, Croatia, 25 - 27 May 2017, vol.256, (Summary Text)
2017
201746. A NEW MUTATION IN THE WISP3 GENE (c.935_936insTp. C314Lfs7) IN A PATIENT WITH PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
ABUR Ü., OĞUR M. G., AYKUT A., ALANAY Y.
Erciyes Medical Journal, 11 - 13 May 2017, vol.39, (Summary Text)
2017
201747. Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family
KOŞUKCU C., ASLI K., ALANAY Y., KAVAK P., BERKER N., TAŞKIRAN Z. E., et al.
10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Cyprus (Kktc), 29 - 30 June 2017, (Full Text)
0
048. A report of mosaic Turner syndrome with a mild Kabuki like phenotype
Yararbas K., Sayar C., Tumer S., Tavukcu C., Oncu N., Ozciger D., et al.
vol.10, (Summary Text)
2017
201749. Baraitser-Winter Syndromein a boy with heterozygote missense mutation in the ACTB gene.
TEMEL Ş. G., ALANAY Y., Cumhur E., Pelin Özlem K. Ş.
ESHG Conference 2017, 27 - 30 May 2017, (Summary Text)
2017
201750. Mitokondriyal hastalıklarda genetik testlerin rolü-iki olgu sunumu
ÖZTÜRK THOMAS G., ÜNVER O., SAĞER S. G., KUTLUBAY B., ALANAY Y., Yüksel F., et al.
19. Ulusal çocuk nörolojisi kongresi, Turkey, 19 - 23 April 2017, (Summary Text)
2017
201751. Seçmeli Derslerin Uygulanmasında Acıbadem Tıp Fakültesi Deneyimi; Araştırma ve Projelerin Seçmeli Dersler ile Entegrasyonu
Altıntaş L., Artvinli F., Bakırcı N., Alanay Y.
Ulusal Tıp Eğitimi Sempozyumu 2017, Antalya, Turkey, 15 - 17 March 2017, vol.1, no.186, pp.1-2, (Summary Text)
2016
201652. Clinical and Molecular Analysis of 3M Syndrome Patients A Study From Turkey
ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., Cormier Daire V., et al.
28th International Congress of Pediatrics, 17 - 22 August 2016, (Full Text)
2016
201653. Detection of 15q (Prader Willi/Angelman) deletion in maternal cell-free fetal dna test, a case report
BATUKAN A. C., TAKMAZ Ö., YAKICIER M. C., ALANAY Y., ÖZBAŞLI E., Tosun O.
25th European Congress of Perinatal Medicine, Maastricht, Netherlands, 15 - 18 June 2016, vol.29, pp.21-22, (Summary Text)
2016
201654. Meier Gorlin ear patella short stature syndrome A rare clinical entity
AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ALANAY Y., ÜTİNE G. E., BODUROĞLU O. K.
European Society of Human Genetics Conference 2016, 21 - 24 May 2016, (Full Text)
2016
201655. OBSL1 Mutations Represent The Major Gene Defect In A Group Of 3M Syndrome Patients A Study From Turkey
ŞİMŞEK KİPER P. Ö., Taşkıran E. Z., ARSLAN U., Koşukçu C., AKGÜN DOĞAN Ö., ÜTİNE G. E., et al.
European Society of Human Genetics Conference 2016, 21 - 24 May 2016, (Full Text)
2016
201656. Detection of 15q (Prader Willi/ Angelman syndrome) deletion in maternal cell-free fetal DNA test; A case report
BATUKAN C., TAKMAZ Ö., YAKICIER C., ALANAY Y., ÖZBAŞLI E.
XI. Türk Alman Jinekoloji Kongresi, Antalya, Turkey, 11 - 15 May 2016, (Summary Text)
2016
201657. Parsiyel Trizomi 19p13 ile iliişkili bir immün yetmezlik
BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.
2. Klinik İmmunoloji Kongresi, Turkey, 31 March - 03 April 2016
2016
201658. Parsiyel Trizomi 19 9 ile ilşkili bir İmmün Yetmezlik
BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.
2. Klinik İmmonoloji Kongresi, Turkey, 31 March - 03 April 2016
2015
201559. 3M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi
ŞİMŞEK KİPER P. Ö., EKİM ZİHNİ T., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., VALERİE C. D., et al.
2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015
2015
201560. A custom Amplisec arrhytmia panel comprimising 68 cardiac chanelopathy genes is a gold standard for the rapid and sensitive detection of genetic variation in long Qt syndrome
Burcu T., TEMEL Ş. G., AYKAN H. H., SÜLÜ A., UYSAL F., BAŞPINAR O., et al.
American Society of Human Genetics Congress, 6 - 10 October 2015
2015
201561. 3D Image analysis of facial skeletal and soft tissue changes after monobloc distraction
CANTER H. İ., ÖZEK M., ÇAKAN D., ALANAY Y., YILDIZ M. E., YILDIZ K.
The 16th Congress of International Society of Craniofacial Surgery (ISCFS), 14 - 18 September 2015
2015
201562. CLINICAL AND MOLECULAR STUDY OF A SERIES OF 31 PATIENTS WITH CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
Ranza E., Huber C., Levin N., Baujat G., ALANAY Y., Al Gazali L., et al.
12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING’, 29 July - 01 August 2015, (Summary Text)
2015
201563. Spotlight on the pathogenesis of Kabuki syndrome
NİNA B., TSAİ I., POHL E., ŞİMŞEK KİPER P. Ö., BELEGGIA F., PERÇİN F. E., et al.
ESHG 2015, 6-9 June 2015, Glasgow, Scotland, United Kingdom., 6 - 09 June 2015, (Full Text)
2015
201564. Spotlight on the pathogenesis of Kabuki syndrome
Bögershausen N., Tsai I. C., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., PERÇİN F. E., et al.
European Human Genetics Conference - ESHG 2015, Glasgow, Scotland, UK, 6 - 09 June 2015, (Summary Text)
2015
201565. Spotlight on the pathogenesis of Kabuki syndrome
Bögershausen N., Tsai I., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., Percin F., et al.
European Human GeneticsConference 2015, 6 - 09 June 2015, (Summary Text)
2012
201266. Bir Olgu Nedeni ile PTH Direnci Pseudohipoparatiroidi tip1 A Albright Herediter Osteodistrofisi mi Akrodisostoz mu
RAHİME GÜL Y. M., ALANAY Y., ÖZSU E., YÜKSEL A., ÇİZMECİOĞLU F. M., HATUN Ş.
16.Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Samsun, Turkey, 6 - 10 November 2012, (Summary Text)
2011
201167. Cabezas Sendromu
ÖZSU E., RAHİME GÜL Y. M., ÇİZMECİOĞLU F. M., ALANAY Y., HATUN Ş.
15. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, İzmir, Turkey, 23 - 26 November 2011, (Summary Text)
2011
201168. Metabolik Sendrom Carnevale Sendrom Birlikteliği Vaka Sunumu
RAHİME GÜL Y. M., ALANAY Y., ÖZSU E., ÇİZMECİOĞLU F. M., HATUN Ş.
15.Ulusal Pediatrik Endokrin ve Diyabet Kongresi, İzmir, Turkey, 23 - 26 November 2011, (Summary Text)
2010
201069. BİR SPONDİLO ENDONDRO DİSPLAZİ VAKASI
RAHİME GÜL Y. M., ÖZSU E., ÇİZMECİOĞLU F. M., ALANAY Y., HATUN Ş.
14. Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Muğla, Turkey, 4 - 10 October 2010, (Summary Text)
2009
200970. Two siblings with severe deforming osteogenesis imperfecta with mutations in the newly idendified recessive OI gene FKBP 65
RAHİME GÜL Y. M., ALANAY Y., AKARSU A. N., ÖZSU E., ÇİZMECİOĞLU F. M., HATUN Ş.
ESPE 49.Annual Meeting, PRAGUE, 22 - 25 September 2009, (Summary Text)
2009
200971. Rapid prenatal diagnosis of common aneuploidies by QF-PCR, four years experience of Hacettepe University
Aktas D., Kutukcu B., Utine G., ALANAY Y., Deren O., BODUROĞLU O. K., et al.
7th European Cytogenetics Conference, Stockholm, Sweden, 4 - 07 July 2009, vol.17, pp.209, (Summary Text)
2007
200772. Two patients with distal partial trisomy 1q
Aktas D., Utine E., ALANAY Y., Gucer S., Tuncbilek E., Mrasek K., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70-71, (Summary Text)
2007
200773. Unilateral peters' anomaly type I in an infant with 22q11.2 deletion syndrome
Erdogan K. M., Utine G. E., ALANAY Y., Volkan-Salanci B., Boduroglu K., Aktas D., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.100, (Summary Text)
2007
200774. Clinical evaluation of Prader-Willi and Angelman syndrome patients with 15q11-13 deletion
Kurtul K., Boduroglu K., ALANAY Y., Utine E., Salanci B. V., Aktas D., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.96, (Summary Text)
2007
200775. Partial monosomy of distal 6q
Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu A., Tuncbilek E.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70, (Summary Text)
2007
200776. The detection of subtelomeric chromosomal rearrangements in 100 patients with idiopathic mental retardation: Hacettepe University Experience
Celik T., Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu M., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70, (Summary Text)
2007
200777. Chromosomal abnormalities presented with seizures
Volkan-Salanci V., Utine G. E., Alanay Y., Aktas D., Boduroglu K., Alikasifoglu M., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.84, (Summary Text)
2007
200778. Bloom syndrome in a child with severe short stature and wilms tumor
Boduroglu K., ALANAY Y., Alikasifoglu M., Aktas D., Utine G. E., Tuncbilek E.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.142-143, (Summary Text)
Books
2021
20211. Akondroplazi
AKGÜN DOĞAN Ö., ALANAY Y.
in: Çocuk Genetik Hastalıkları, Mıhçı, Ercan, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.66-71, 2021
2019
20192. Genetik Danışma
AKGÜN DOĞAN Ö., ALANAY Y.
in: Cerebral Palsy ve Genetik, Özbek Uğur, Akçakaya Nihan Hande, Editor, Boyut Yayınevi, İstanbul, pp.57-65, 2019
2017
20173. Kısım 10 Klinik Genetik ve Dismorfoloji, İskeletin Genetik Hastalıkları
ŞİMŞEK KİPER P. Ö., ALANAY Y.
in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitabevi, Ankara, pp.2024-2047, 2017
Funded Projects
2024 - 2027
2024 - 2027
Arid1b Ile İlişkili Bozuklukta Gelişimsel İlerleme Alanları - Çok Yöntemli Çok Merkezli Prospektif Doğal Seyir Çalışması
Other International Funding Programs
Akgün Doğan Ö., Sütçübaşı B., Alanay Y.
2024 - 2026
2024 - 2026
Combining Multidisciplinary Re-phenotyping with Re-analysis of WES/WGS Data in Patients with Undiagnosed Skeletal Dysplasias
TÜBİTAK International Bilateral Joint Cooperation Program Project , French National Centre for Scientific Research, CNRS Bilateral Joint Cooperation Program
(Project Abstract)
Akgün Doğan Ö., Alanay Y. (Executive), Abalı S., Özdemir Ö.
2024 - 2025
2024 - 2025ARID1B İle İlişkili Bozuklukta Gelişimsel İlerleme Alanları - Çok Yöntemli Çok Merkezli Prospektif Doğal Seyir Çalışması
Project Supported by Other Official Institutions
Akgün Doğan Ö.(Executive), Alanay Y., Özek M.
2024 - 2025
2024 - 2025Acıbadem Üniversitesi Tıp Fakültesi'nde Kraniosinostoz Kayıt Sisteminin Oluşturulması: Ulusal Kayıt Sistemi için Temel Oluşturma Çalışması (Establishing a Craniosynostosis Registry in Acibadem Universty School of Medicine, Turkey: A Nucleus for a National Registry)
Project Supported by Other Official Institutions
Akgün Doğan Ö. (Executive), Alanay Y., Özek M.
2024 - 2025
2024 - 2025Progresif Psödoromatoid Displazi Hastalığı Geni Olan CCN6de in vitro Oluşturulan Patojenik Varyantların Fonksiyonel Analizleri
Project Supported by Other Official Institutions , BAP Other
TAHİR TURANLI E. (Executive), GÜVEN G., ALANAY Y.
2023 - 2025
2023 - 2025Herediter Spastik Paraparezili Bir Ailede Klinik İnceleme ve ERLIN1 Geninin Hastalık Patofizyolojisindeki Yerinin Aydınlatılması
Project Supported by Higher Education Institutions , BAP Other
ALANAY Y. (Executive)
2022 - 2024
2022 - 2024Progresif Psödoromatoid Displazi Geni olan CCN6’daki Patojenik Varyantların İşlevsel Analizleri İçin Kondrosit Hücre Hatlarında Modellenmesi
TUBITAK Project , 1002 - Quick Support Program
Güven G. (Executive), Alanay Y., Tahir Turanlı E.
2022 - 2024
2022 - 2024İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu-İSTisNA
Development Agency
Bilgüvar K., Hatırnaz Ng Ö. (Executive), Özdemir Ö., Akgün Doğan Ö., Alanay Y., Özbek U.
2022 - 2024
2022 - 2024
Yenidoğan ve Çocuk Yoğun Bakım Ünitesinde (YYBÜ/ÇYBÜ) Hızla Kötüleşen Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı
Project Supported by Higher Education Institutions , BAP Research Project
(Project Abstract)
Alanay Y., Özbek U., Hatırnaz Ng Ö., Akgün Doğan Ö., Özdemir Ö., Çıtak A., et al.
2022 - 2023
2022 - 2023“Herediter Spastik Paraparezili Bir Ailede Klinik İnceleme ve ERLIN1 Geninin Hastalık Patofizyolojisindeki Yerinin Aydınlatılması”
Project Supported by Higher Education Institutions , BAP Other
Akgün Doğan Ö., Alanay Y., Hatırnaz Ng Ö., Açıkel Elmas M.
2019 - 2023
2019 - 2023European Research Program on Rare Diseases
EU Framework Program Project , H2020 Research Infrastructures Project
(Project Abstract)
Özbek U., Alanay Y., Sezerman O. U., Julkowska D.(Executive)
2020 - 2021
2020 - 2021Albinizm Hastalıklarında gen varyantlarının ekzom analizi ile belirlenmesi
Project Supported by Higher Education Institutions , BAP Research Project
Hatırnaz Ng Ö. (Executive), Özbek U., Alanay Y.
2019 - 2021
2019 - 2021Bireysel ve Dönüşümsel Tıp Alanındaki Uygulamalı Proje Çağrısı: Albinizm
Research Project of the Presidency of Turkey Health Institutes (TÜSEB)
Hatırnaz Ng Ö., Özbek U. (Executive), Alanay Y.
2019 - 2021
2019 - 2021İSTisNA – İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu Fizibilite Projesi
Development Agency
(Project Abstract)
Özbek U. (Executive), Hatırnaz Ng Ö., Alanay Y.
2016 - 2021
2016 - 2021Akondroplazisi olan pediatrik hastalar için çok merkezli, çok uluslu klinik değerlendirme
Project Supported by Private Organizations in Other Countries
(Project Abstract)
Karaayvaz S., Alanay Y., Abalı S.
2019 - 2020
2019 - 2020Genetic predisposition to leukemia and lymphoma
Project Supported by Higher Education Institutions , BAP Research Project
Özbek U. (Executive), Hatırnaz Ng Ö., Alanay Y.
2018 - 2020
2018 - 2020The intend and design of this study is to assess BMN 111 as a therapeutic option for the treatment of children with Achondroplasia
Project Supported by Private Organizations in Other Countries
(Project Abstract)
Karaayvaz S., Alanay Y., Abalı S.
Activities in Scientific Journals
2023 - Continues
2023 - ContinuesEUROPEAN JOURNAL OF MEDICAL GENETICS
Committee Member
2010 - Continues
2010 - ContinuesAmerican Journal Of Medical Genetics Part A
Committee Member
2010 - Continues
2010 - ContinuesClinical Dysmorphology
Committee Member
Memberships and Roles in Scientific Organizations
2011 - Continues
2011 - Continues
Çocuk Genetik Hastalıkları Derneği
Member
2009 - Continues
2009 - ContinuesTürk Pediatri Kurumu
Member
2005 - Continues
2005 - ContinuesInternational Skeletal Dysplasia Society
Member
2003 - Continues
2003 - ContinuesEuropean Society of Human Genetics
Member
2002 - Continues
2002 - ContinuesMilli Pediatri Derneği
Member