Publications & Works

Publication Network
Articles 21
All (21)
SCI-E, SSCI, AHCI (18)
SCI-E, SSCI, AHCI, ESCI (19)
ESCI (1)
Scopus (18)
TRDizin (3)

1. Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review

ALTINER Ş., GÖKPINAR İLİ E., YURTDAŞ A. K., Kurtçu O., Doğulu N., ÖKTEM A., et al.
Journal of Human Genetics , vol.71, no.8, pp.513-520, 2026 (SCI-Expanded, Scopus) Creative Commons License

2. Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity

KUMRU G., ALTINER Ş., KARAKAYA A., EKİNCİ S., TUNCALI T., KUTLAY N., et al.
Journal of clinical practice and research , 2026 (ESCI, TRDizin)

3. Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1: First Case from Türkiye

Turan L., Gökplnar İli E., Doǧan M., Erenel H., Gezdirici A.
MOLECULAR SYNDROMOLOGY , vol.16, no.6, pp.640-645, 2025 (SCI-Expanded, Scopus) Sustainable Development

4. Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease

Ercoskun P., Gumus A. A., Ili E., Celik L. Y., Dogan M., Yavuz S., et al.
CLINICAL GENETICS , vol.107, no.5, pp.517-526, 2025 (SCI-Expanded, Scopus)

5. Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion

Kablan A., Aru E. E., Atar S., Gumus A. A., İli E., KAYHAN G., et al.
American Journal of Medical Genetics, Part A , vol.197, no.3, 2025 (SCI-Expanded, Scopus)

6. A novel variant of the STAR gene: nonclassical presentation from Turkey

Kaplan E. H. A., Gezdirici A., Sutcu Z. K., Gokpinar III E.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.37, no.9, pp.835-839, 2024 (SCI-Expanded, Scopus)

7. Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant

ÖKTEM A., ÖZAYDIN B., GÜNDÜZ K., GÖKPINAR İLİ E., ŞANLI H., KAPLAN İ., et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY , no.11, pp.1485-1488, 2024 (SCI-Expanded, Scopus) Creative Commons License

8. A novel RNPC3 gene variant expands the phenotype in patients with congenital hypopituitarism and neuropathy

Abali Z. Y., Ili E., BAŞ F., Ozkan M. U., GÜLEÇ Ç., TOKSOY G., et al.
HORMONE RESEARCH IN PAEDIATRICS , no.2, pp.157-164, 2024 (SCI-Expanded, Scopus)

9. Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey

Lazic J., Haas O. A., Özbek U., Ripperger T., Byrjalsen A., te Kronnie G., et al.
PEDIATRIC BLOOD & CANCER , vol.70, no.5, 2023 (SCI-Expanded, Scopus) Sustainable Development

10. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

Uzunhan T. A., Erturk B., Aydin K., AYAZ A., Altunoglu U., Yarar M. H., et al.
CLINICAL NEUROLOGY AND NEUROSURGERY , 2023 (SCI-Expanded, Scopus)

11. Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature

Ili E., Gezdirici A., Di Pietro E., Yergeau C., Braverman N.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.188, no.11, pp.3229-3235, 2022 (SCI-Expanded, Scopus)

12. Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)

Ili E., Tasdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.188, no.6, pp.1792-1800, 2022 (SCI-Expanded, Scopus)

13. Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome

Yavas C., ÜN C., Celebi E., Gezdirici A., Dogan M., Ili E., et al.
REVISTA DA ASSOCIACAO MEDICA BRASILEIRA , vol.68, no.9, pp.1282-1287, 2022 (SCI-Expanded, Scopus) Creative Commons License

14. Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance

Taşdelen E., Gökpınar İli E., Altıner Ş., Ceylan A. C., Tuncalı T.
Ankara Üniversitesi Tıp Fakültesi Mecmuası , vol.74, no.3, pp.365-369, 2021 (TRDizin)

15. A Rare Cause of Syncope Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene

Sonsoz M. R., Ili E., Gezdirici A., Topel C., Kahveci G., Bornaun H.
CIRCULATION-CARDIOVASCULAR IMAGING , no.10, pp.998-1001, 2021 (SCI-Expanded, Scopus)

16. Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience

Gezdirici A., İLİ E., DEĞİRMENCİ B., GÜMÜŞ A. A., Özdemir G., ERMAN N. A., et al.
ACTA ONCOLOGICA TURCICA , vol.54, no.3, pp.264-272, 2021 (TRDizin)

17. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis

YILDIZHAN İ., Ili E., Onoufriadis A., KOÇYİĞİT P., Kesidou E., Simpson M. A., et al.
CYTOGENETIC AND GENOME RESEARCH , no.9, pp.523-530, 2020 (SCI-Expanded, Scopus)

18. Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa

Ertop P., Vural S., Ili E., Durmaz C. D., HEPER A., McGrath J. A., et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY , no.7, pp.851-855, 2020 (SCI-Expanded, Scopus)

19. Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature

Gokpinar E., Altiner Ş., KARABULUT H. G.
CYTOGENETIC AND GENOME RESEARCH , no.2, pp.74-80, 2019 (SCI-Expanded, Scopus)

20. Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study

Vural S., Gundogdu M., Illi E., Durmaz C. D., Vural A., Steinmuller-Magin L., et al.
BRITISH JOURNAL OF DERMATOLOGY , no.6, pp.1459-1467, 2019 (SCI-Expanded, Scopus)

21. Optimizing the transport and storage conditions of current Good Manufacturing Practice - grade human umbilical cord mesenchymal stromal cells for transplantation (HUC-HEART Trial)

TOPAL ÇELİKKAN F., Mungan C., Sucu M., Ulus A. T., ÇINAR Ö., Ili E., et al.
CYTOTHERAPY , no.1, pp.64-75, 2019 (SCI-Expanded, Scopus)
Papers Presented at Peer-Reviewed Scientific Conferences 24

1. Kronik Lenfositik Lösemi Hastalarında Ighv Somatik Hipermutasyon Profili: Tek Merkez Deneyimi

İLBASMIŞ H., ALTINER Ş., TUNCALI T., KUTLAY N., KARABULUT H. G., EKİNCİ S., et al.
3. Ulusal HematoOnkoGenetik Kongresi, Antalya, Turkey, 27 - 30 October 2025, (Summary Text)

2. BRCA1 and BRCA2 Germline Sequence Analysis Data: A Single-Center Experience

LEBLEBİCİ C. B., KUTLAY N., ILGIN RUHİ H., TUNCALI T., KARABULUT H. G., EKİNCİ S., et al.
International hereditary cancer congress, Antalya, Turkey, 6 - 09 February 2025, (Summary Text)

3. Evaluation of the results of cytogenetic, molecular cytogenetic and molecular analysis in non-Hodgkin lymphoma

LEBLEBİCİ C. B., KUTLAY N., VİCDAN N. A., EKİNCİ S., ILGIN RUHİ H., TUNCALI T., et al.
ESHG Conference Berlin 1-4 June 2024, Berlin, Germany, 1 June - 01 April 2024, (Summary Text)

4. Could VUS be important in AML?

KUTLAY N., KARABULUT H. G., TUNCALI T., ILGIN RUHİ H., EKİNCİ S., ALTINER Ş., et al.
ESHG Conference Berlin 1-4 June 2024, Berlin, Germany, 01 June 2024, vol.32, pp.923, (Summary Text)

5. Kordosentez Yapılan Hastaların Analizi

Aydın Şenel S., KURT K., ARSLANOĞLU T., GÖKPINAR İLİ E., AYDIN GÜMÜŞ A.
Başakşehir Çam ve Sakura Şehir Hastanesi Kadın Doğum Günleri, İstanbul, Turkey, 10 March 2023, (Summary Text)

6. Distrofik Epidermolizis Bülloza: Doku Mozaisizmine Giden Bir Aile Çalışması

Sevim B., Öktem A., Gökpınar İli E., Gündüz K., Kaplan İ., Erdemli E., et al.
XV. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.146, (Summary Text)

7. Serebellar atrofide nadir bir genotip: GEMIN5 geninde compound heterozigot varyant saptanan bir olgu

Gökpınar İli E., Uyur Yalçın E., Eldeş Hacıfazlıoğlu N.
XV. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.66, (Summary Text)

8. A case of PTEN hamartoma tumor syndrome; a family study

Ilgın Ruhi H., Gökpınar İli E., Güleray Lafcı N., Taşdelen E., Altıner Ş.
54th European Society of Human Genetics (ESHG) Conference, 28 - 31 August 2021, pp.424-425, (Summary Text)

9. Novel homozygous CEP41 mutation in a patient with Joubert syndrome

Ili E., Bektas G.
54th Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 28 - 31 August 2021, pp.270, (Summary Text)

10. Saf kırmızı hücre aplazisinde genetik heterojenite

Gökpınar İli E., Arslantaş E.
1. Ulusal Hematoonkogenetik Kongresi, Antalya, Turkey, 25 - 28 November 2021, pp.169, (Summary Text)

11. Novel Homozygous Missense MSMO1 Mutation in Two Patients With SC4MOL Deficiency

YILDIZHAN İ., GÖKPINAR İLİ E., ONOUFRIADIS A., EROL MART H. M., KESİDOU E., KOÇYİĞİT P., et al.
1. Uluslararası Katılımlı Genetik Günleri Dermatogenetik Sempozyumu, Bursa, Turkey, 9 - 11 January 2020, (Summary Text)

12. Assessing the limits of transport and storage conditions ofcGMP-grade humanumbilical cord mesenchymal stromal cells for clinical use

TOPAL ÇELİKKAN F., Mungan C., Merve S., ULUS A. T., ÇINAR Ö., GÖKPINAR İLİ E., et al.
INTERNATIONAL SYMPOSIUM ON CELLULARTHERAPY IN CARDIOVASCULAR MEDICINE:, 30 October - 01 November 2019, (Summary Text)

13. Sendromik Epidermolizis büllöza pruriginozanın genetik karakterizasyonu ve intravenöz immunglobulinin etkinliği

ERTOP P., VURAL S., GÖKPINAR İLİ E., HEPER A., McGrath J., ILGIN RUHİ H., et al.
28.Ulusal Dermatoloji Kongresi, Antalya, Turkey, 24 - 28 September 2019, (Summary Text)

14. Intrafamilial phenotypic heterogeneity in dominant dystrophic epidermolysis bullosa associated with G2043R mutation in COL7A1

Ili E., Vural S., Durmaz C. D., McGrath J. A., Ertop P., Heper 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, pp.105, (Summary Text)

15. Pyrin mutations in complex hidradenitis suppurativa

Vural S., Gundogdu M., Ili E., Durmaz C. D., Vural A., Steinmueller-Magin L., et al.
Annual Meeting of the British-Society-for-Investigative-Dermatology, Bradford, England, 1 - 03 April 2019, (Summary Text)

16. A novel truncating mutation in LIG4 gene.

GÖKPINAR İLİ E., ILGIN RUHİ H.
13. Balkan Congress of Human Genetics, 17 - 20 April 2019, (Summary Text)

17. ATN1 gene mutation in patients with Huntington disease-like phenotype

KARABULUT H. G., GÖKOĞLU M., Altıner Ş., DURMAZ C. D., GÖKPINAR İLİ E., VİCDAN N. A., et al.
13. Balkan Congress of Human Genetics, 17 - 20 April 2019, (Summary Text)

18. Hidradenitis Suppurativa ile pyrin mutasyonları ve otoinflamasyon ilişkisi

VURAL S., GÜNDOĞDU M., GÖKPINAR İLİ E., DURMAZ C. D., ILGIN RUHİ H., BOYVAT A.
28.Ulusal Dermatoloji Kongresi, Turkey, 24 - 28 September 2019, (Summary Text)

19. FRA16B: Cause or consequence? A case with Tourette syndrome and intellectual disability

Kaba D., GÖKPINAR İLİ E., KUTLAY N., KILIÇ B. G.
27th Turkish chile and adolescant psychiatry congress, 10 - 13 May 2017, pp.213-214, (Summary Text)

20. MIXED GONADAL DYSGENESİS CYTOGENETİC AND PHENOTYPİC FİNDİNGS OF TWO CASES WİTH AMBİGOUS GENİTALİA

GÖKPINAR E., DURMAZ C. D., ŞIKLAR Z., BERBEROĞLU M., ILGIN RUHİ H.
ESHG 2016, 21 - 24 May 2016, (Summary Text)

21. Mixed gonadal dysgenesis cytogenetic and phenotypic findings of two cases with ambiguous genitalia

GÖKPINAR E., DURMAZ C. D., ŞIKLAR Z., BERBEROĞLU M., ILGIN RUHİ H.
European Human Genetics Conference, BARSELONA, Spain, 21 - 24 May 2016, (Summary Text)

22. Investigation of TBP gene mutations in patients with Huntington Disease phenotype

GÖKOĞLU M., KARABULUT H. G., TÜREDİ Ö., ALTINER Ş., DURMAZ C. D., GÖKPINAR E., et al.
The European Human Genetics Conference2016, Barselona, Spain, 21 - 24 May 2016, (Summary Text)

23. Novel Mutations in the Androgen Receptor Gene in Four 46 XY Females with Complete Androgen Insensitivity Syndrome

ILGIN RUHİ H., KARABULUT H. G., ŞIKLAR Z., GÖKPINAR E., GÖKOĞLU M., BERBEROĞLU M., et al.
European Human Genetics Conference, BARSELONA, Spain, 21 - 24 May 2016, (Summary Text)

24. 22q11.2 delesyon sendromlu yetişkin dönem sunumlu bir olgu.

GÖKPINAR E., ILGIN RUHİ H.
II. Hematolojik Genetik Sempozyumu, Kayseri, Turkey, 11 - 13 February 2016, (Summary Text)
Books 1

1. Down Sendromunda Sık Görülen Dermatolojik Sorunlar ve Yönetimi

GÖKPINAR İLİ E., VURAL S.
in: Down Sendromu, ILGIN RUHİ HATİCE, Editor, Türkiye Klinikleri Tıbbi Genetik-Özel Konular, Ankara, pp.82-91, 2024
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23

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19

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134

H-Index (WoS)

6

Citation (Scopus)

122

H-Index (Scopus)

6

Citation (TrDizin)

5

H-Index (TrDizin)

1

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5

Thesis Advisory

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Open Access

5
UN Sustainable Development Goals
SDG 3: GOAL 3: GOOD HEALTH AND WELL-BEING