Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.30, no.SUPPL 1, pp.41-42, 2022 (Journal Indexed in SCI) identifier

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

AMERICAN JOURNAL OF HUMAN GENETICS, vol.108, no.11, pp.2112-2129, 2021 (Journal Indexed in SCI) identifier identifier identifier

Refractory temporal lobe epilepsy in patients with mosaic turner syndrome: two case reports and literature review

NEUROLOGICAL SCIENCES AND NEUROPHYSIOLOGY, vol.38, no.3, pp.194-198, 2021 (Journal Indexed in SCI) Sustainable Development identifier identifier

A rare cause of syndromic short stature: 3M syndrome in three families

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020 (Journal Indexed in SCI) identifier identifier identifier

Peters Plus syndrome: a recognizable clinical entity

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.1, pp.136-140, 2020 (Journal Indexed in SCI) identifier identifier identifier

Ophthalmo-acromelic syndrome in an infant

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.62, no.7, 2019 (Journal Indexed in SCI) identifier identifier identifier

An eight-case 1q21 region series: novel aberrations and clinical variability with new features

Journal of Intellectual Disability Research, vol.63, no.6, pp.548-557, 2019 (Journal Indexed in SSCI) identifier identifier identifier

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

European Journal of Obstetrics and Gynecology and Reproductive Biology, vol.221, pp.76-80, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

Anauxetic dysplasia: A rare clinical entity

Turkish Journal of Pediatrics, vol.60, no.1, pp.89-93, 2018 (Journal Indexed in SCI) identifier identifier identifier

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

Fetal and Pediatric Pathology, vol.36, no.6, pp.445-451, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

HERC1 mutations in idiopathic intellectual disability

European Journal of Medical Genetics, vol.60, no.5, pp.279-283, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

A Turkish BCS1L mutation causes GRACILE-like disorder

TURKISH JOURNAL OF PEDIATRICS, vol.58, no.6, pp.658-661, 2016 (Journal Indexed in SCI) identifier identifier

Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis

American Journal of Medical Genetics, Part A, vol.167, no.9, pp.2065-2074, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

American Journal of Medical Genetics, Part A, vol.167, no.4, pp.919-921, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

Etiological yield of SNP microarrays in idiopathic intellectual disability

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.18, no.3, pp.327-337, 2014 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Celiac disease in Williams-Beuren syndrome

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.2, pp.154-159, 2014 (Journal Indexed in SCI) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.2, pp.291-304, 2014 (Journal Indexed in SCI) identifier identifier identifier

Barraquer-Simons syndrome: A rare clinical entity

American Journal of Medical Genetics, Part A, vol.164, no.7, pp.1756-1760, 2014 (Journal Indexed in SCI Expanded) identifier identifier identifier

A Case of 13q22. 2 q33. 3 Deletion

CHROMOSOME RESEARCH, vol.21, 2013 (Journal Indexed in SCI) identifier

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings

TURKISH JOURNAL OF PEDIATRICS, vol.55, no.2, pp.207-209, 2013 (Journal Indexed in SCI) identifier identifier identifier

A mutation screen in patients with Kabuki syndrome

HUMAN GENETICS, vol.130, no.6, pp.715-724, 2011 (Journal Indexed in SCI) identifier identifier identifier

A newborn with overlapping features of AEC and EEC syndromes

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.12, pp.3100-3103, 2011 (Journal Indexed in SCI) identifier identifier identifier

TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis

PARASITOLOGY INTERNATIONAL, vol.59, no.2, pp.283-285, 2010 (Journal Indexed in SCI) identifier identifier identifier

Cowden syndrome with bronchial asthma

TURKISH JOURNAL OF PEDIATRICS, vol.52, no.3, pp.330-332, 2010 (Journal Indexed in SCI) identifier identifier identifier

Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome

CLINICAL DYSMORPHOLOGY, vol.17, no.4, pp.289-290, 2008 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.51, no.2, pp.107-113, 2021 (Journal Indexed in ESCI) identifier identifier identifier

Stuve-Wiedemann Syndrome: A Rare Clinical Entity

GAZI MEDICAL JOURNAL, vol.31, no.4, pp.642-644, 2020 (Journal Indexed in ESCI) identifier identifier

Achondroplasiaand Down SyndromeIn An Infant: A RareCo-Occurrence

Asia Pacific Journal of Pediatric and Child Health, 2020 (Refereed Journals of Other Institutions)

Akondroplazide baba yaşı: İleri baba yaşı kaçtır?

Çocuk Sağlığı ve Hastalıkları, vol.62, no.62, pp.7-9, 2019 (National Non-Refereed Journal) identifier

3M Sendromu

Çocuk Sağlığı ve Hastalıkları Dergisi, 2017 (Other Refereed National Journals)

Gorlin Syndrome in Eleven Patients

JOURNAL OF PEDIATRIC RESEARCH, vol.4, no.2, pp.63-67, 2017 (Journal Indexed in ESCI) Sustainable Development identifier

3M syndrome 3M sendromu

Cocuk Sagligi ve Hastaliklari Dergisi, vol.60, no.2, pp.56-63, 2017 (Refereed Journals of Other Institutions) identifier

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.46, no.6, pp.299-300, 2016 (Journal Indexed in ESCI) identifier identifier

Genetics in Ophthalmology III - Posterior Segment Diseases

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.42, no.5, pp.386-392, 2012 (Journal Indexed in ESCI) Sustainable Development identifier identifier

Genetics in Ophthalmology I - Basic Concepts

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.42, no.5, pp.370-377, 2012 (Journal Indexed in ESCI) Sustainable Development identifier identifier

Genetics in Ophthalmology II-Anterior Segment Diseases

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.42, no.5, pp.378-385, 2012 (Journal Indexed in ESCI) Sustainable Development identifier identifier

Refereed Congress / Symposium Publications in Proceedings

The Skeletal Dysplasia Registry: Hacettepe Experience

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019

IGF1 Receptor Deletion is a Rare Cause of Prenatal Onset Short Stature.

International Congress of the Growth Hormone Research IGF Societies, Sep 14 - 17, 2018, Seattle, Washington, United States of America., 14 - 17 September 2018

6p25.3 delesyonu

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

KID Sendromu: Nadir bir klinik antite

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Juvenil Paget Hastalığı

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Teebi hipertelorizm sendromu

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Peters Plus Sendromu

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Nadir görülen bir iskelet displazisi Stüve Wiedemann sendromu

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Sempozyum Kitabı Sayfa 72., Turkey, 22 - 24 October 2015

Hennekam sendromu Otozomal resesif geçişli bir konjenital lenfödem

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Erişkin dönemde tanı alan Williams sendromu vakası

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Bir vaka nedeniyle Goltz sendromu

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

WAGR Sendromu Aniriden daha fazlası

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

3M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Roberts SC Phocomelia Syndrome A Rare Clinical Entity

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

Keutel Syndrome A Rare Clinical Entity

International Skeletal Dysplasia Society 12th Biennial Meeting, July 29th-August 1, 2015-Istanbul, Turkey, Abstract Book p.109., İstanbul, Turkey, 29 July - 01 August 2015

Novel Mutations in the Osteoprotegerin Gene TNFRSF11B in Two Patients with Juvenile Paget's Disease.

Annual Meeting of the American-Society-for-Bone-and-Mineral-Research, Texas, United States Of America, 12 - 15 September 2014, vol.29 identifier

Books & Book Chapters